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| Clinical Genomics Work Group | Maturity Level : N/A | Standards Status : Informative | Compartments : Patient |
Raw XML ( canonical form + also see XML Format Specification )
StructureDefinition for molecularsequence
<?xml version="1.0" encoding="UTF-8"?>vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCs PVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAACCE lEQVQ4y4XTv2sUQRTA8e9Mzt3kjoOLSXFgZ6GJQlALCysLC89OsLTXv0VFxE4stRAEQUghSWEXuM4qMZpATsUD70dyMdnduZ15z2I vMV5IfDDNm5nPm59GVTkpms1mTVXvhxDuichlEZn03m+KyJL3/mWj0fiKqp7YVlZWXrfbbR2PTqeji4uLn1WVEqdECKFRr9eP5Wdn Z/HeXwROB0TEA3S7XarVKiLC1tYW8/PzeO/5LxBCUABrLXEc02q1KJfLB30F0P144dPU9LVL1kwcrU06WP0ewhML4JwDYDgcHo7I8 7wAjNq5ypU3Z8arT8F5u/xejw52zmGM+Rcg1wyIcc/BTYCdBlODyh3ElA1AHMekaUoURURRBECWZSNgaGzBxxAU9jfQ9jrJr2dcbb XobRYHlQAzo9X1gDR9+KUArE6CwLefZD9WCW6P0uRZKreXqADkHXZ3dshzjwRholJH397AOXcTwHTfzQ1n7q6NnYEAy+DWQVNwKWQ J6vcx557Se7HAzIN1M9rCwVteA/rAYDRRICQgSZEr7WLYO3bzJVJGQBu0D74PkoHkoBnIHvjfkO9AGABmDHCjFWgH8i7kPQh9yEeY H4DfLhBJgA2A7BBQJ9uwXWY3rhJqFo1AaiB1CBngwKZQcqAeSFSduL9Akj7qPF64jnALS5VTPwdgPwwJ+uog9Qcx4kRZiPKqxgAAA ABJRU5ErkJggg== vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px padding-left: 3px; padding-right: 3px; border: 1px grey solid; font-weight: bold; color: black; background-color: #fff5e6 vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxInformation about a biological sequence Elements defined in Ancestors: The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.,<StructureDefinition xmlns="http://hl7.org/fhir"> <id value="MolecularSequence"/> <meta> <lastUpdated value="2023-03-26T15:21:02.749+11:00"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"> <table border="0" cellpadding="0" cellspacing="0" style="border: 0px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;"> <tr style="border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top"> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="The logical name of the element">Name</a> </th> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="Information about the use of the element">Flags</a> </th> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="Minimum and Maximum # of times the the element can appear in the instance">Card.</a> </th> <th class="hierarchy" style="width: 100px"> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="Reference to the type of the element">Type</a> </th> <th class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="Additional information about the element">Description & Constraints</a> <span style="float: right"> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="Legend for this format"> <img alt="doco" src="data:(snipped in html view)" style="background-color: inherit"/> </a> </span> </th> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAJUlEQVR4Xu3IIQEAAAgDsHd9/w4EQIOamFnaBgAA4M MKAACAKwNp30CqZFfFmwAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Resource"/> <span title="MolecularSequence : Representation of a molecular sequence.">MolecularSequence</span> <a name="MolecularSequence"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="versions.html#std-process" style="padding-left: 3px; padding-right: 3px; border: 1px grey solid; font-weight: bold; color: black; background-color: #fff5e6" title="Standards Status = Trial Use">TU</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="domainresource.html">DomainResource</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Representation of a molecular sequence <br/> <br/> Elements defined in Ancestors: <a href="resource.html#Resource" title="The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.">id</a> , <a href="resource.html#Resource" title="The metadata about the resource. This is content that is maintained by the infrastructure.Changes to the content might not always be associated with version changes to the resource., A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc., , A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety., These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.,Changes to the content might not always be associated with version changes to the resource.">meta</a> , <a href="resource.html#Resource" title="A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.">implicitRules</a> , <a href="resource.html#Resource" title="The base language in which the resource is written.">language</a> , <a href="domainresource.html#DomainResource" title="A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.">text</a> , <a href="domainresource.html#DomainResource" title="These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, nor can they have their own independent transaction scope. This is allowed to be a Parameters resource if and only if it is referenced by a resource that provides context/meaning.">contained</a> , <a href="domainresource.html#DomainResource" title="May be used to represent additional information that is not part of the basic definitionof the resource. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.,of the resource. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.">extension</a> , <a href="domainresource.html#DomainResource" title="May be used to represent additional information that is not part of the basic definitionof the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6E EQAAgCsPVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 MolecularSequence.identifier : A unique identifier for this particular sequence instance. This is a FHIR-defined id. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxUnique ID for this particular sequence. This is a FHIR-defined id vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCs PVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxaa | dna | rna ( ) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6E EQAAgCsPVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.coordinateSystem : Whether the sequence is numbered starting at 0 (0-based numbering or coordinates, inclusive start, exclusive end) or starting at 1 (1-based numbering, inclusive start and inclusive end). vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxBase number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCs PVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxjw v8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjEE OACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQK lQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC MolecularSequence.patient : The patient whose sequencing results are described by this resource. vertical-align: top; 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text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxA sequence used as reference + Rule: Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString; vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 MolecularSequence.referenceSeq.chromosome : Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceontology.org/browser/current_ svn/term/SO:0000340)). vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxChromosome containing genetic finding ( Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.referenceSeq.genomeBuild : The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.referenceSeq.orientation : A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxsense | antisense ( ) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 MolecularSequence.referenceSeq.referenceSeqId : Reference identifier of reference sequence submitted to NCBI. It must match the type in the MolecularSequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxReference identifier ( Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.) vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxjw v8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjEE OACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQK lQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC MolecularSequence.referenceSeq.referenceSeqPointer : A pointer to another MolecularSequence entity as reference sequence. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px ( ) vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.referenceSeq.strand : An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxwatson | crick ( ) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.referenceSeq.windowStart : Start position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCs PVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUOL +O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.referenceSeq.windowEnd : End position of the window on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6E EQAAgCsPVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw/ npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///wD/ACH5BAEKAB8ALAAAAAAQABAAAAVl4CeOZGm e5qCqqDg8jyVJaz1876DsmAQAgqDgltspMEhMJoMZ4iy6I1AooFCIv+wKybziALVAoAEjYLwDgGIpJhMslgxaLR4/3rMAWoBp32V5 exg8Shl1ckRUQVaMVkQ2kCstKCEAOw== MolecularSequence.variant : The definition of variant here originates from Sequence ontology ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element can represent amino acid or nucleic sequence change(including insertion,deletion,SNP,etc.) It can represent some complex mutation or segment variation with the assist of CIGAR string. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxVariant in sequence vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.variant.start : Start position of the variant on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.variant.end : End position of the variant on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.variant.observedAllele : An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023 )). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.variant.referenceAllele : An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023 )). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.variant.cigar : Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalys isWorkflow/Content/Vault/Informatics/Sequencing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm). vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6E EQAAgCsPVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUOL +O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAAAXNSR0IArs4c6QAAAARnQU1BAACxjw v8YQUAAAAJcEhZcwAADsMAAA7DAcdvqGQAAAAadEVYdFNvZnR3YXJlAFBhaW50Lk5FVCB2My41LjEwMPRyoQAAAFxJREFUOE/NjEE OACEIA/0o/38GGw+agoXYeNnDJDCUDnd/gkoFKhWozJiZI3gLwY6rAgxhsPKTPUzycTl8lAryMyMsVQG6TFi6cHULyz8KOjC7OIQK lQpU3uPjAwhX2CCcGsgOAAAAAElFTkSuQmCC MolecularSequence.variant.variantPointer : A pointer to an Observation containing variant information. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px ( ) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCs PVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.observedSeq : Sequence that was observed. It is the result marked by referenceSeq along with variant records on referenceSeq. This shall start from referenceSeq.windowSt art and end by referenceSeq.windowEnd. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6E EQAAgCsPVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPQfAOvGUf7ztuvPMf/78/fkl/Pbg+u8Rvjqteu2Pf3zxPz36Pz0z+vTmPzurPvuw/ npofbjquvNefHVduuyN+uuMu3Oafbgjfnqvf/3zv/3xevPi+vRjP/20/bmsP///wD/ACH5BAEKAB8ALAAAAAAQABAAAAVl4CeOZGm e5qCqqDg8jyVJaz1876DsmAQAgqDgltspMEhMJoMZ4iy6I1AooFCIv+wKybziALVAoAEjYLwDgGIpJhMslgxaLR4/3rMAWoBp32V5 exg8Shl1ckRUQVaMVkQ2kCstKCEAOw== MolecularSequence.quality : An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001686)). vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxAn set of value as quality of sequence vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxindel | snp | unknown ( ) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 MolecularSequence.quality.standardSequence : Gold standard sequence used for comparing against. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxStandard sequence for comparison ( Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.) vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.start : Start position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.end : End position of the sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 MolecularSequence.quality.score : The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceontology.org/browser/current_svn/term/SO:0001685)). vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxMethod to get quality ( Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.) vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.truthTP : True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.queryTP : True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.truthFN : False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.queryFP : False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.gtFP : The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar). vertical-align: top; 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text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.fScore : Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall). vertical-align: top; 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text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxGenotype quality score vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAANElEQVR42u3WwQkAIAwDwO6a/WdQVygW/VzhniGQVytJdZxb3cyk3/0AAMDFP28 EAADglQ1WK0BWTK0BuwAAAABJRU5ErkJggg==) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.roc.numTP : The number of true positives if the GQ score threshold was set to "score" field value. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxRoc score true positive numbers vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAANElEQVR42u3WwQkAIAwDwO6a/WdQVygW/VzhniGQVytJdZxb3cyk3/0A AMDFP28EAADglQ1WK0BWTK0BuwAAAABJRU5ErkJggg==) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.roc.numFP : The number of false positives if the GQ score threshold was set to "score" field value. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxRoc score false positive numbers vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAANElEQVR42u3WwQkAIAwDwO6a/WdQVygW/VzhniGQVytJdZxb3cyk3/0AAMDFP28 EAADglQ1WK0BWTK0BuwAAAABJRU5ErkJggg==) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.roc.numFN : The number of false negatives if the GQ score threshold was set to "score" field value. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxRoc score false negative numbers vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAANElEQVR42u3WwQkAIAwDwO6a/WdQVygW/VzhniGQVytJdZxb3cyk3/0A AMDFP28EAADglQ1WK0BWTK0BuwAAAABJRU5ErkJggg==) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.roc.precision : Calculated precision if the GQ score threshold was set to "score" field value. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxPrecision of the GQ score vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAANElEQVR42u3WwQkAIAwDwO6a/WdQVygW/VzhniGQVytJdZxb3cyk3/0AAMDFP28 EAADglQ1WK0BWTK0BuwAAAABJRU5ErkJggg==) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.roc.sensitivity : Calculated sensitivity if the GQ score threshold was set to "score" field value. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxSensitivity of the GQ score vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6E EQAAgCsPVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzME+lXFigAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+3OsRUAIAjEUOL +O8cJABttJM11/x1qZAGqRBEVcNIqdWj1efDqQbb3HwwwwEfABmQUHSPM9dtDAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.quality.roc.fMeasure : Calculated fScore if the GQ score threshold was set to "score" field value. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxFScore of the GQ score vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAL0lEQVR42u3XsQ0AQAgCQHdl/xn8jxvYWB3JlTR0VJLa+OltBwAAYP6EEQAAgCs PVYVAgIJrA/sAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.readCoverage : Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence. vertical-align: top; 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The repository shall store target's observedSeq or records related with target's observedSeq. vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxExternal repository which contains detailed report related with observedSeq in this resource vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+5QQAAOC ZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.repository.type : Click and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxdirectlink | openapi | login | oauth | other ( ) vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVB ORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMElEQVR42u3QwQkAMAwDsezq/WdoskKgFAoy6HkfV5LamJ1tc7MHAAD+ 5QQAAOCZBkurQFbnaRSlAAAAAElFTkSuQmCC) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzMPbYccAgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAMElEQVQ4y+3OQREAIBDDwAv +PQcFFN5MIyCzqHMKUGVCpMFLK97heq+gggoq+EiwAVjvMhFGmlEUAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAACXBIWXMAAAsTAAALEwEAmpwYAAAARk lEQVQ4y2P8//8/AyWAhYFCMAgMuHjx4n+KXaCv+I0szW8WpCG8kFO1lGFKW/SIjAUYgxz/MzAwMDC+nqhDUTQyjuYFBgCNmhP4OvT RgwAAAABJRU5ErkJggg== MolecularSequence.repository.url : URI of an external repository which contains further details about the genetics data. vertical-align: top; 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text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4pxStructural variant vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGg oAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR42u3QwQkAMAwDsezq/WdIO4XJQwa9DTdJpulv258AAMANIgAAADUPYAV AgAJ//usAAAAASUVORK5CYII=) data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAAWCAYAAAABxvaqAAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIs1vtcMQAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAE0lEQVQI12P4//8/AxMDAwN dCABMPwMo2ctnoQAAAABJRU5ErkJggg== data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzIZgEiYEgAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAAIElEQVQ4y2P8//8/AyWAiYF CMGrAqAGjBowaMGoAAgAALL0DKYQ0DPIAAAAASUVORK5CYII= data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAWCAYAAADJqhx8AAAACXBIWXMAAAsTAAALEwEAmpwYAAAAB3 RJTUUH3wYeFzI3XJ6V3QAAAB1pVFh0Q29tbWVudAAAAAAAQ3JlYXRlZCB3aXRoIEdJTVBkLmUHAAAANklEQVQ4y+2RsQ0AIAzDav7 /2VzQwoCY4iWbZSmo1QGoUgNMghvWaIejPQW/CrrNCylIwcOCDYfLNRcNer4SAAAAAElFTkSuQmCC data:image/png;base64,R0lGODlhEAAQAPZ/APrkusOiYvvfqbiXWaV2G+jGhdq1b8GgYf3v1frw3vTUlsWkZNewbcSjY/DQka d4Hb6dXv3u0f3v1ObEgfPTlerJiP3w1v79+e7OkPrfrfnjuNOtZPrpydaxa+/YrvvdpP779ZxvFPvnwKKBQaFyF/369M2vdaqHRPz 58/HNh/vowufFhfroxO3OkPrluv779tK0e6JzGProwvrow9m4eOnIifPTlPDPkP78+Naxaf3v0/zowfXRi+bFhLWUVv379/rnwPvs zv3rye3LiPvnv+3MjPDasKiIS/789/3x2f747eXDg+7Mifvu0tu7f+/QkfDTnPXWmPrjsvrjtPbPgrqZW+/QlPz48K2EMv36866OU Pvowat8Ivvgq/Pbrvzgq/PguvrgrqN0Gda2evfYm9+7d/rpw9q6e/LSku/Rl/XVl/LSlfrkt+zVqe7Wqv3x1/bNffbOf59wFdS6if 3u0vrqyP3owPvepfXQivDQkO/PkKh9K7STVf779P///wD/ACH5BAEKAH8ALAAAAAAQABAAAAemgH+CgxeFF4OIhBdKGwFChYl/hYw bdkoBPnaQkosbG3d3VEpSUlonUoY1Gzo6QkI8SrGxWBOFG4uySgY5ZWR3PFy2hnaWZXC/PHcPwkpJk1ShoHcxhQEXSUmtFy6+0iSF VResrjoTPDzdcoU+F65CduVU6KAhhQa3F8Tx8nchBoYuqoTLZoAKFRIhqGwqJAULFx0GYpBQeChRIR4TJm6KJMhQRUSBAAA7 MolecularSequence.structureVariant.variantType : Information about chromosome structure variation DNA change type. vertical-align: top; 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If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px Documentation for this format If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where(((id.exists() and ('#'+id in (%resource.descendants().reference | %resource.descenda nts().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url)))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(uri) = '#').exists()).not()).trace('unmatched', id).empty() not(exists(for $contained in f:contained return $contained[not(exists(parent::*/descendant::f:refere nce/@value=concat('#', $contained/*/f:id/@value)) or exists(descendant::f:reference[@value='#']))])) If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated When a resource has no narrative, only systems that fully understand the data can display the resource to a human safely. Including a human readable representation in the resource makes for a much more robust eco-system and cheaper handling of resources by intermediary systems. Some ecosystems restrict distribution of resources to only those systems that do fully understand the resources, and as a consequence implementers may believe that the narrative is superfluous. However experience shows that such eco-systems often open up to new participants over time. The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes. The only time that a resource does not have an id is when it is being submitted to the server using a create operation.of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).">modifierExtension</a> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAw EwfT6/ddA0GBAxO3NrLlKUj9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Data Type"/> <span title="MolecularSequence.identifier : A unique identifier for this particular sequence instance.">identifier</span> <a name="MolecularSequence.identifier"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#Identifier">Identifier</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Unique ID for this particular sequence <br/> <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAwEwfT6/ddA0GBAxO3NrLlKUj 9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.type : Amino Acid Sequence/ DNA Sequence / RNA Sequence.">type</span> <a name="MolecularSequence.type"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#code">code</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">aa | dna | rna <br/> Binding: <a href="valueset-sequence-type.html">sequence Type</a> ( <a href="terminologies.html#required" title="To be conformant, the concept in this element SHALL be from the specified value set.">Required</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAw EwfT6/ddA0GBAxO3NrLlKUj9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Reference to another Resource"/> <span title="MolecularSequence.subject : Indicates the subject this sequence is associated too.">subject</span> <a name="MolecularSequence.subject"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="references.html#Reference">Reference</a> ( <a href="patient.html">Patient</a> | <a href="group.html">Group</a> | <a href="substance.html">Substance</a> | <a href="biologicallyderivedproduct.html">BiologicallyDerivedProduct</a> | <a href="nutritionproduct.html">NutritionProduct</a> ) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Subject this sequence is associated too <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAwEwfT6/ddA0GBAxO3NrLlKUj 9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="MolecularSequence.focus : The actual focus of a molecular sequence when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the subject would be the child (proband) and the focus would be the parent.">focus</span> <a name="MolecularSequence.focus"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="references.html#Reference">Reference</a> ( <a href="resourcelist.html">Any</a> ) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">What the molecular sequence is about, when it is not about the subject of record <br/> <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAw EwfT6/ddA0GBAxO3NrLlKUj9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Reference to another Resource"/> <span title="MolecularSequence.specimen : Specimen used for sequencing.">specimen</span> <a name="MolecularSequence.specimen"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="references.html#Reference">Reference</a> ( <a href="specimen.html">Specimen</a> ) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Specimen used for sequencing <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAwEwfT6/ddA0GBAxO3NrLlKUj 9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> <span title="MolecularSequence.device : The method for sequencing, for example, chip information.">device</span> <a name="MolecularSequence.device"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="references.html#Reference">Reference</a> ( <a href="device.html">Device</a> ) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">The method for sequencing <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAw EwfT6/ddA0GBAxO3NrLlKUj9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Reference to another Resource"/> <span title="MolecularSequence.performer : The organization or lab that should be responsible for this result.">performer</span> <a name="MolecularSequence.performer"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="references.html#Reference">Reference</a> ( <a href="organization.html">Organization</a> ) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Who should be responsible for test result <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAwEwfT6/ddA0GBAxO3NrLlKUj 9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.literal : Sequence that was observed.">literal</span> <a name="MolecularSequence.literal"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Sequence that was observed <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoREAIAw EwfT6/ddA0GBAxO3NrLlKUj9263wAAAAvrgEAADClAVWFQIBRHMicAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Data Type"/> <span title="MolecularSequence.formatted : Sequence that was observed as file content. Can be an actual file contents, or referenced by a URL to an external system.">formatted</span> <a name="MolecularSequence.formatted"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#Attachment">Attachment</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Embedded file or a link (URL) which contains content to represent the sequence <br/> <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAJUlEQVR4Xu3IIQEAAAgDsHd9/w4EQIOamFnaBgAA4M MKAACAKwNp30CqZFfFmwAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Element"/> <span title="MolecularSequence.relative : A sequence defined relative to another sequence.">relative</span> <a name="MolecularSequence.relative"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="types.html#BackBoneElement">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">A sequence defined relative to another sequence <br/> <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR4Xu3IsQ0AIAw Esez6+89AqKGGJj7JzVWS+mm3zgcAAMxwDQAAgFcaYAVAgNGLTjgAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Data Type"/> <span title="MolecularSequence.relative.coordinateSystem : These are different ways of identifying nucleotides or amino acids within a sequence. Different databases and file types may use different systems. For detail definitions, see https://loinc.org/92822-6/ for more detail.">coordinateSystem</span> <a name="MolecularSequence.relative.coordinateSystem"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">1..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Ways of identifying nucleotides or amino acids within a sequence <br/> Binding: <a href="http://loinc.org/LL5323-2/">LL5323-2</a> ( <a href="terminologies.html#extensible" title="To be conformant, the concept in this element SHALL be from the specified value set if any of the codes within the value set can apply to the concept being communicated. If the value set does not cover the concept (based on human review), alternate codings (or, data type allowing, text) may be included instead.">Extensible</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR4Xu3IsQ0AIAwEsez6+89AqKGGJj7JzVWS+m m3zgcAAMxwDQAAgFcaYAVAgNGLTjgAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.ordinalPosition : Indicates the order in which the sequence should be considered when putting multiple 'relative' elements together.">ordinalPosition</span> <a name="MolecularSequence.relative.ordinalPosition"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Indicates the order in which the sequence should be considered when putting multiple 'relative' elements together <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR4Xu3IsQ0AIAw Esez6+89AqKGGJj7JzVWS+mm3zgcAAMxwDQAAgFcaYAVAgNGLTjgAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Data Type"/> <span title="MolecularSequence.relative.sequenceRange : Indicates the nucleotide range in the composed sequence when multiple 'relative' elements are used together.">sequenceRange</span> <a name="MolecularSequence.relative.sequenceRange"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#Range">Range</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Indicates the nucleotide range in the composed sequence when multiple 'relative' elements are used together <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR4Xu3IsQ0AIAwEsez6+89AqKGGJj7JzVWS+m m3zgcAAMxwDQAAgFcaYAVAgNGLTjgAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Element"/> <span title="MolecularSequence.relative.startingSequence : A sequence that is used as a starting sequence to describe variants that are present in a sequence analyzed.">startingSequence</span> <a name="MolecularSequence.relative.startingSequence"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> <a href="conformance-rules.html#constraints" style="padding-left: 3px; padding-right: 3px; border: 1px maroon solid; font-weight: bold; color: #301212; background-color: #fdf4f4;" title="This element has or is affected by some invariants">C</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="types.html#BackBoneElement">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">A sequence used as starting sequence <br/> <span style="font-style: italic" title="msq-5">+ Rule: Both genomeAssembly and chromosome must be both contained if either one of them is contained</span> <br/> <span style="font-style: italic" title="msq-6">+ Rule: Have and only have one of the following elements in startingSequence: 1. genomeAssembly; 2 sequence</span> <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBR Dwb9r9p9BrbUSUZsLXPMglaReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Data Type"/> <span title="MolecularSequence.relative.startingSequence.genomeAssembly : The genome assembly used for starting sequence, e.g. GRCh38.">genomeAssembly</span> <a name="MolecularSequence.relative.startingSequence.genomeAssembly"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> <a href="conformance-rules.html#constraints" style="padding-left: 3px; padding-right: 3px; border: 1px maroon solid; font-weight: bold; color: #301212; background-color: #fdf4f4;" title="This element has or is affected by some invariants">C</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">The genome assembly used for starting sequence, e.g. GRCh38 <br/> Binding: <a href="http://loinc.org/LL1040-6/">LL1040-6</a> ( <a href="terminologies.html#extensible" title="To be conformant, the concept in this element SHALL be from the specified value set if any of the codes within the value set can apply to the concept being communicated. If the value set does not cover the concept (based on human review), alternate codings (or, data type allowing, text) may be included instead.">Extensible</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBRDwb9r9p9BrbUSUZsLXPMgla ReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="MolecularSequence.relative.startingSequence.chromosome : Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceo ntology.org/browser/current_svn/term/SO:0000340)).">chromosome</span> <a name="MolecularSequence.relative.startingSequence.chromosome"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> <a href="conformance-rules.html#constraints" style="padding-left: 3px; padding-right: 3px; border: 1px maroon solid; font-weight: bold; color: #301212; background-color: #fdf4f4;" title="This element has or is affected by some invariants">C</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Chromosome Identifier <br/> Binding: <a href="http://loinc.org/LL2938-0/">LL2938-0</a> ( <a href="terminologies.html#required" title="To be conformant, the concept in this element SHALL be from the specified value set.">Required</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBR Dwb9r9p9BrbUSUZsLXPMglaReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Choice of Types"/> <span title="MolecularSequence.relative.startingSequence.sequence[x] : The reference sequence that represents the starting sequence.">sequence[x]</span> <a name="MolecularSequence.relative.startingSequence.sequence_x_"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> <a href="conformance-rules.html#constraints" style="padding-left: 3px; padding-right: 3px; border: 1px maroon solid; font-weight: bold; color: #301212; background-color: #fdf4f4;" title="This element has or is affected by some invariants">C</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">The reference sequence that represents the starting sequence <br/> Binding: Multiple bindings acceptable (NCBI or LRG) ( <a href="terminologies.html#example" title="Instances are not expected or even encouraged to draw from the specified value set. The value set merely provides examples of the types of concepts intended to be included.">Example</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBRDwb9r9p9BrbVSUJsLXPMgla ReGmtz2/H7DwAAnFsCAADALR1r0UAs80WDJQAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Data Type"/> <span title="A concept that may be defined by a formal reference to a terminology or ontology or may be provided by text.">sequenceCodeableConcept</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#CodeableConcept">CodeableConcept</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBR Dwb9r9p9BrbVSUJsLXPMglaReGmtz2/H7DwAAnFsCAADALR1r0UAs80WDJQAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Primitive Data Type"/> <span title="A sequence of Unicode characters">sequenceString</span> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBRDwb9r9p9BrbUSUZsLXPMgla ReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Reference to another Resource"/> sequenceReference </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="references.html#Reference">Reference</a> ( <a href="molecularsequence.html">MolecularSequence</a> ) </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"/> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBR Dwb9r9p9BrbUSUZsLXPMglaReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.startingSequence.windowStart : Start position of the window on the starting sequence. This value should honor the rules of the coordinateSystem.">windowStart</span> <a name="MolecularSequence.relative.startingSequence.windowStart"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Start position of the window on the starting sequence <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBRDwb9r9p9BrbUSUZsLXPMgla ReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.startingSequence.windowEnd : End position of the window on the starting sequence. This value should honor the rules of the coordinateSystem.">windowEnd</span> <a name="MolecularSequence.relative.startingSequence.windowEnd"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">End position of the window on the starting sequence <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAMUlEQVR4Xu3LsQkAIBR Dwb9r9p9BrbUSUZsLXPMglaReGmtz23H6BwAA/lkCAADALR1gq0BWueJ34gAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.startingSequence.orientation : A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand.">orientation</span> <a name="MolecularSequence.relative.startingSequence.orientation"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#code">code</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">sense | antisense <br/> Binding: <a href="valueset-orientation-type.html">orientation Type</a> ( <a href="terminologies.html#required" title="To be conformant, the concept in this element SHALL be from the specified value set.">Required</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR4Xu3IsQ0AIAwEsez6+89AqKGGJj7JzVWS+m m3zgcAAMxwDQAAgFcaYAVAgNGLTjgAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.startingSequence.strand : An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm.">strand</span> <a name="MolecularSequence.relative.startingSequence.strand"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#code">code</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">watson | crick <br/> Binding: <a href="valueset-strand-type.html">strand Type</a> ( <a href="terminologies.html#required" title="To be conformant, the concept in this element SHALL be from the specified value set.">Required</a> ) <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAAJUlEQVR4Xu3IIQEAAAg DsHd9/w4EQIOamFnaBgAA4MMKAACAKwNp30CqZFfFmwAAAABJRU5ErkJggg==)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Element"/> <span title="MolecularSequence.relative.edit : Changes in sequence from the starting sequence.">edit</span> <a name="MolecularSequence.relative.edit"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..*</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="types.html#BackBoneElement">BackboneElement</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Changes in sequence from the starting sequence <br/> <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoQ0AMAwEsez6+8/QBqe4IJJPMrlKUp t0Zz4AAGCHZwAAAPxyAWqFQIAoZQ9kAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.edit.start : Start position of the edit on the starting sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.">start</span> <a name="MolecularSequence.relative.edit.start"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Start position of the edit on the starting sequence <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoQ0AMAw Esez6+8/QBqe4IJJPMrlKUpt0Zz4AAGCHZwAAAPxyAWqFQIAoZQ9kAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.edit.end : End position of the edit on the starting sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.">end</span> <a name="MolecularSequence.relative.edit.end"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#integer">integer</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">End position of the edit on the starting sequence <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;bas e64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALUlEQVR4Xu3IoQ0AMAwEsez6+8/QBqe4IJJPMrlKUp t0Zz4AAGCHZwAAAPxyAWqFQIAoZQ9kAAAAAElFTkSuQmCC)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: white; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.edit.replacementSequence : Allele that was observed. Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end.">replacementSequence</span> <a name="MolecularSequence.relative.edit.replacementSequence"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Allele that was observed <br/> </td> </tr> <tr style="border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAyAAAAACCAYAAACg/LjIAAAALElEQVR4Xu3IsQ0AIAw Esez6+89AqKGGJj7JzVWSmmS3zgcAAPxxDQAAgFcadQVAgPvMVYYAAAAASUVORK5CYII=)"> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: inherit"/> <img alt="." class="hierarchy" src="data:(snipped in html view)" style="background-color: #F7F7F7; background-color: inherit" title="Primitive Data Type"/> <span title="MolecularSequence.relative.edit.replacedSequence : Allele in the starting sequence. Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the starting sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end.">replacedSequence</span> <a name="MolecularSequence.relative.edit.replacedSequence"> </a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="elementdefinition-definitions.html#ElementDefinition.isSummary" style="padding-left: 3px; padding-right: 3px; color: black; null" title="This element is included in summaries">Σ</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">0..1</td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px"> <a href="datatypes.html#string">string</a> </td> <td class="hierarchy" style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px">Allele in the starting sequence <br/> </td> </tr> <tr> <td class="hierarchy" colspan="5"> <br/> <a href="https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views" title="Legend for this format"> <img alt="doco" src="data:(snipped in html view)" style="background-color: inherit"/> Documentation for this format </a> </td> </tr> </table> </div> </text> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-category"> <valueString value="Clinical.Diagnostics"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"> <valueCode value="trial-use"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"> <valueInteger value="1"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-security-category"> <valueCode value="patient"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"> <valueCode value="cg"/> </extension> <url value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> <version value="5.0.0"/> <name value="MolecularSequence"/> <status value="draft"/> <experimental value="false"/> <date value="2023-03-26T15:21:02+11:00"/> <publisher value="Health Level Seven International (Clinical Genomics)"/> <contact> <telecom> <system value="url"/> <value value="http://hl7.org/fhir"/> </telecom> </contact> <contact> <telecom> <system value="url"/> <value value="http://www.hl7.org/Special/committees/clingenomics/index.cfm"/> </telecom> </contact> <description value="Representation of a molecular sequence."/> <jurisdiction> <coding> <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/> <code value="001"/> <display value="World"/> </coding> </jurisdiction> <fhirVersion value="5.0.0"/> <mapping> <identity value="w5"/> <uri value="http://hl7.org/fhir/fivews"/> <name value="FiveWs Pattern Mapping"/> </mapping> <mapping> <identity value="rim"/> <uri value="http://hl7.org/v3"/> <name value="RIM Mapping"/> </mapping> <kind value="resource"/> <abstract value="false"/> <type value="MolecularSequence"/> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> <derivation value="specialization"/> <snapshot> <element id="MolecularSequence"> <path value="MolecularSequence"/> <short value="Representation of a molecular sequence"/> <definition value="Representation of a molecular sequence."/> <min value="0"/> <max value="*"/> <base> <path value="MolecularSequence"/> <min value="0"/> <max value="*"/> </base> <constraint> <key value="dom-2"/> <severity value="error"/> <human value="If the resource is contained in another resource, it SHALL NOT contain nested Resources"/> <expression value="contained.contained.empty()"/> <source value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> </constraint> <constraint> <key value="dom-3"/> <severity value="error"/> <human value="If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource"/> <expression value="contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().ofTy pe(canonical) | %resource.descendants().ofType(uri) | %resource.descendants().ofType(url))) or descendants().where(reference = '#').exists() or descendants().where(ofType(canonical) = '#').exists() or descendants().where(ofType(canonical) = '#').exists()).not()).trace('unmat ched', id).empty()"/> <source value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> </constraint> <constraint> <key value="dom-4"/> <severity value="error"/> <human value="If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated"/> <expression value="contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()"/> <source value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> </constraint> <constraint> <key value="dom-5"/> <severity value="error"/> <human value="If a resource is contained in another resource, it SHALL NOT have a security label"/> <expression value="contained.meta.security.empty()"/> <source value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> </constraint> <constraint> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice"> <valueBoolean value="true"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice-explanation"> <valueMarkdown value="When a resource has no narrative, only systems that fully understand the data can display the resource to a human safely. Including a human readable representation in the resource makes for a much more robust eco-system and cheaper handling of resources by intermediary systems. Some ecosystems restrict distribution of resources to only those systems that do fully understand the resources, and as a consequence implementers may believe that the narrative is superfluous. However experience shows that such eco-systems often open up to new participants over time."/> </extension> <key value="dom-6"/> <severity value="warning"/> <human value="A resource should have narrative for robust management"/> <expression value="text.`div`.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/DomainResource"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="Entity, Role, or Act"/> </mapping> <mapping> <identity value="w5"/> <map value="clinical.diagnostics"/> </mapping> </element> <element id="MolecularSequence.id"> <path value="MolecularSequence.id"/> <short value="Logical id of this artifact"/> <definition value="The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes."/> <comment value="Within the context of the FHIR RESTful interactions, the resource has an id except for cases like the create and conditional update. Otherwise, the use of the resouce id depends on the given use case."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.id"/> <min value="0"/> <max value="1"/> </base> <!-- Note: special primitive values have a FHIRPath system type. e.g. this is compiler magic (j) --> <type> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> <valueUrl value="id"/> </extension> <code value="http://hl7.org/fhirpath/System.String"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.meta"> <path value="MolecularSequence.meta"/> <short value="Metadata about the resource"/> <definition value="The metadata about the resource. This is content that is maintained by the infrastructure.Changes to the content might not always be associated with version changes to the resource. A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc. Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.Changes to the content might not always be associated with version changes to the resource."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.meta"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Meta"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.implicitRules"> <path value="MolecularSequence.implicitRules"/> <short value="A set of rules under which this content was created"/> <definition value="A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc."/> <comment value="Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of its narrative along with other profiles, value sets, etc."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.implicitRules"/> <min value="0"/> <max value="1"/> </base> <type> <code value="uri"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="true"/> <isModifierReason value="This element is labeled as a modifier because the implicit rules may provide additionalknowledge about the resource that modifies it's meaning or interpretation Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute). A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety. Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later. These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope. This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels. Containing new R4B resources within R4 resources may cause interoperability issues if instances are shared with R4 systems ($this is Citation or $this is Evidence or $this is EvidenceReport or $this is EvidenceVariable or $this is MedicinalProductDefinition or $this is PackagedProductDefinition or $this is AdministrableProductDefinition or $this is Ingredient or $this is ClinicalUseDefinition or $this is RegulatedAuthorization or $this is SubstanceDefinition or $this is SubscriptionStatus or $this is SubscriptionTopic) implies (%resource is Citation or %resource is Evidence or %resource is EvidenceReport or %resource is EvidenceVariable or %resource is MedicinalProductDefi nition or %resource is PackagedProductDefinition or %resource is AdministrableProductDefinition or %resource is Ingredient or %resource is ClinicalUseDefinition or %resource is RegulatedAuthorizat ion or %resource is SubstanceDefinition or %resource is SubscriptionStatus or %resource is SubscriptionTopic) not(f:Citation|f:Evidence|f:EvidenceReport|f:EvidenceVariable|f:MedicinalProductDefinition|f:Package dProductDefinition|f:AdministrableProductDefinition|f:Ingredient|f:ClinicalUseDefinition|f:RegulatedA uthorization|f:SubstanceDefinition|f:SubscriptionStatus|f:SubscriptionTopic) or not(parent::f:Citatio n|parent::f:Evidence|parent::f:EvidenceReport|parent::f:EvidenceVariable|parent::f:MedicinalProductDe finition|parent::f:PackagedProductDefinition|parent::f:AdministrableProductDefinition|parent::f:Ingre dient|parent::f:ClinicalUseDefinition|parent::f:RegulatedAuthorization|parent::f:SubstanceDefinition| f:SubscriptionStatus|f:SubscriptionTopic) May be used to represent additional information that is not part of the basic definition of the resource. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) Whether the sequence is numbered starting at 0 (0-based numbering or coordinates, inclusive start, exclusive end) or starting at 1 (1-based numbering, inclusive start and inclusive end). A sequence that is used as a reference to describe variants that are present in a sequence analyzed. (exists(f:chromosome) and exists(f:genomeBuild)) or (not(exists(f:chromosome)) and not(exists(f:geno meBuild))) Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString; (genomeBuild.count()+referenceSeqId.count()+ referenceSeqPointer.count()+ referenceSeqString.count() ) = 1 count(f:genomeBuild)+count(f:referenceSeqId)+count(f:referenceSeqPointer)+count(f:referenceSeqString )=1 Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](htt p://www.sequenceontology.org/browser/current_svn/term/SO:0000340)). The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used. A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand. Reference identifier of reference sequence submitted to NCBI. It must match the type in the MolecularSequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences. An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm. Start position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. End position of the window on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. The definition of variant here originates from Sequence ontology ([variant_of](http://www.sequenceon tology.org/browser/current_svn/term/variant_of)). This element can represent amino acid or nucleic sequence change(including insertion,deletion,SNP,etc.) It can represent some complex mutation or segment variation with the assist of CIGAR string. Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Start position of the variant on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. End position of the variant on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end. An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end. Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow/Content/Vault/Informatics/Sequenc ing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm). Sequence that was observed. It is the result marked by referenceSeq along with variant records on referenceSeq. This shall start from referenceSeq.windowStart and end by referenceSeq.wind owEnd. An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/browser/current_svn /term/SO:0001686)). Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Start position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. End position of the sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceon tology.org/browser/current_svn/term/SO:0001685)). True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event. True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event. False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here. False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here. The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar). Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall). Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them The number of true positives if the GQ score threshold was set to "score" field value. The number of false positives if the GQ score threshold was set to "score" field value. The number of false negatives if the GQ score threshold was set to "score" field value. Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence. Configurations of the external repository. The repository shall store target's observedSeq or records related with target's observedSeq. Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.knowledge about the resource that modifies its meaning or interpretation"/> <isSummary value="true"/> </element> <element id="MolecularSequence.language"> <path value="MolecularSequence.language"/> <short value="Language of the resource content"/> <definition value="The base language in which the resource is written."/> <comment value="Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute)."/> <min value="0"/> <max value="1"/> <base> <path value="Resource.language"/> <min value="0"/> <max value="1"/> </base> <type> <code value="code"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="Language"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-isCommonBinding"> <valueBoolean value="true"/> </extension> <strength value="required"/> <description value="IETF language tag for a human language"/> <valueSet value="http://hl7.org/fhir/ValueSet/all-languages|5.0.0"/> <additional> <purpose value="starter"/> <valueSet value="http://hl7.org/fhir/ValueSet/languages"/> </additional> </binding> </element> <element id="MolecularSequence.text"> <path value="MolecularSequence.text"/> <short value="Text summary of the resource, for human interpretation"/> <definition value="A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety."/> <comment value="Contained resources do not have a narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later."/> <alias value="narrative"/> <alias value="html"/> <alias value="xhtml"/> <alias value="display"/> <min value="0"/> <max value="1"/> <base> <path value="DomainResource.text"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Narrative"/> </type> <condition value="dom-6"/> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="Act.text?"/> </mapping> </element> <element id="MolecularSequence.contained"> <path value="MolecularSequence.contained"/> <short value="Contained, inline Resources"/> <definition value="These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, nor can they have their own independent transaction scope. This is allowed to be a Parameters resource if and only if it is referenced by a resource that provides context/meaning."/> <comment value="This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags in their meta elements, but SHALL NOT have security labels."/> <alias value="inline resources"/> <alias value="anonymous resources"/> <alias value="contained resources"/> <min value="0"/> <max value="*"/> <base> <path value="DomainResource.contained"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Resource"/> </type> <condition value="dom-2"/> <condition value="dom-4"/> <condition value="dom-3"/> <condition value="dom-5"/> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="MolecularSequence.extension"> <path value="MolecularSequence.extension"/> <short value="Additional content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.of the resource. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="DomainResource.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="MolecularSequence.modifierExtension"> <path value="MolecularSequence.modifierExtension"/> <short value="Extensions that cannot be ignored"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Click and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource. Id of the variant in this external repository. The server will understand how to use this id to call for more info about datasets in external repository. Id of the variantset in this external repository. The server will understand how to use this id to call for more info about variantsets in external repository. Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <requirements value="Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension)."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="DomainResource.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <mustSupport value="false"/> <isModifier value="true"/> <isModifierReason value="Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="MolecularSequence.identifier"> <path value="MolecularSequence.identifier"/> <short value="Unique ID for this particular sequence"/> <definition value="A unique identifier for this particular sequence instance."/> <requirements value="Allows sequences to be distinguished and referenced."/> <min value="0"/> <max value="*"/> <base> <path value="MolecularSequence.identifier"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Identifier"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <mapping> <identity value="w5"/> <map value="FiveWs.identifier"/> </mapping> </element> <element id="MolecularSequence.type"> <path value="MolecularSequence.type"/> <short value="aa | dna | rna"/> <definition value="Amino Acid Sequence/ DNA Sequence / RNA Sequence."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.type"/> <min value="0"/> <max value="1"/> </base> <type> <code value="code"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="sequenceType"/> </extension> <strength value="required"/> <description value="Type if a sequence -- DNA, RNA, or amino acid sequence."/> <valueSet value="http://hl7.org/fhir/ValueSet/sequence-type|5.0.0"/> </binding> </element> <element id="MolecularSequence.subject"> <path value="MolecularSequence.subject"/> <short value="Subject this sequence is associated too"/> <definition value="Indicates the subject this sequence is associated too."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.subject"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Patient"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Group"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Substance"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/BiologicallyDerivedProduct"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/NutritionProduct"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.focus"> <path value="MolecularSequence.focus"/> <short value="What the molecular sequence is about, when it is not about the subject of record"/> <definition value="The actual focus of a molecular sequence when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the subject would be the child (proband) and the focus would be the parent."/> <min value="0"/> <max value="*"/> <base> <path value="MolecularSequence.focus"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Resource"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.specimen"> <path value="MolecularSequence.specimen"/> <short value="Specimen used for sequencing"/> <definition value="Specimen used for sequencing."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.specimen"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Specimen"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.device"> <path value="MolecularSequence.device"/> <short value="The method for sequencing"/> <definition value="The method for sequencing, for example, chip information."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.device"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Device"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.performer"> <path value="MolecularSequence.performer"/> <short value="Who should be responsible for test result"/> <definition value="The organization or lab that should be responsible for this result."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.performer"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Organization"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.literal"> <path value="MolecularSequence.literal"/> <short value="Sequence that was observed"/> <definition value="Sequence that was observed."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.literal"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.formatted"> <path value="MolecularSequence.formatted"/> <short value="Embedded file or a link (URL) which contains content to represent the sequence"/> <definition value="Sequence that was observed as file content. Can be an actual file contents, or referenced by a URL to an external system."/> <min value="0"/> <max value="*"/> <base> <path value="MolecularSequence.formatted"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Attachment"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative"> <path value="MolecularSequence.relative"/> <short value="A sequence defined relative to another sequence"/> <definition value="A sequence defined relative to another sequence."/> <min value="0"/> <max value="*"/> <base> <path value="MolecularSequence.relative"/> <min value="0"/> <max value="*"/> </base> <type> <code value="BackboneElement"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.id"> <path value="MolecularSequence.relative.id"/> <representation value="xmlAttr"/> <short value="Unique id for inter-element referencing"/> <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <!-- Note: special primitive values have a FHIRPath system type. e.g. this is compiler magic (j) --> <type> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> <valueUrl value="string"/> </extension> <code value="http://hl7.org/fhirpath/System.String"/> </type> <condition value="ele-1"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="MolecularSequence.relative.extension"> <path value="MolecularSequence.relative.extension"/> <short value="Additional content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.of the element. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="MolecularSequence.relative.modifierExtension"> <path value="MolecularSequence.relative.modifierExtension"/> <short value="Extensions that cannot be ignored even if unrecognized"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <requirements value="Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension)."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <isModifier value="true"/> <isModifierReason value="Modifier extensions are expected to modify the meaning or interpretation of the element that contains them"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="MolecularSequence.relative.coordinateSystem"> <path value="MolecularSequence.relative.coordinateSystem"/> <short value="Ways of identifying nucleotides or amino acids within a sequence"/> <definition value="These are different ways of identifying nucleotides or amino acids within a sequence. Different databases and file types may use different systems. For detail definitions, see https://loinc.org/92822-6/ for more detail."/> <min value="1"/> <max value="1"/> <base> <path value="MolecularSequence.relative.coordinateSystem"/> <min value="1"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="LL5323-2"/> </extension> <strength value="extensible"/> <description value="Genomic coordinate system."/> <valueSet value="http://loinc.org/LL5323-2/"/> </binding> </element> <element id="MolecularSequence.relative.ordinalPosition"> <path value="MolecularSequence.relative.ordinalPosition"/> <short value="Indicates the order in which the sequence should be considered when putting multiple 'relative' elements together"/> <definition value="Indicates the order in which the sequence should be considered when putting multiple 'relative' elements together."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.ordinalPosition"/> <min value="0"/> <max value="1"/> </base> <type> <code value="integer"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> </element> <element id="MolecularSequence.relative.sequenceRange"> <path value="MolecularSequence.relative.sequenceRange"/> <short value="Indicates the nucleotide range in the composed sequence when multiple 'relative' elements are used together"/> <definition value="Indicates the nucleotide range in the composed sequence when multiple 'relative' elements are used together."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.sequenceRange"/> <min value="0"/> <max value="1"/> </base> <type> <code value="Range"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> </element> <element id="MolecularSequence.relative.startingSequence"> <path value="MolecularSequence.relative.startingSequence"/> <short value="A sequence used as starting sequence"/> <definition value="A sequence that is used as a starting sequence to describe variants that are present in a sequence analyzed."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence"/> <min value="0"/> <max value="1"/> </base> <type> <code value="BackboneElement"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="msq-5"/> <severity value="error"/> <human value="Both genomeAssembly and chromosome must be both contained if either one of them is contained"/> <expression value="chromosome.exists() = genomeAssembly.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> </constraint> <constraint> <key value="msq-6"/> <severity value="error"/> <human value="Have and only have one of the following elements in startingSequence: 1. genomeAssembly; 2 sequence"/> <expression value="genomeAssembly.exists() xor sequence.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.startingSequence.id"> <path value="MolecularSequence.relative.startingSequence.id"/> <representation value="xmlAttr"/> <short value="Unique id for inter-element referencing"/> <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <!-- Note: special primitive values have a FHIRPath system type. e.g. this is compiler magic (j) --> <type> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> <valueUrl value="string"/> </extension> <code value="http://hl7.org/fhirpath/System.String"/> </type> <condition value="ele-1"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="MolecularSequence.relative.startingSequence.extension"> <path value="MolecularSequence.relative.startingSequence.extension"/> <short value="Additional content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.of the element. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="MolecularSequence.relative.startingSequence.modifierExtension"> <path value="MolecularSequence.relative.startingSequence.modifierExtension"/> <short value="Extensions that cannot be ignored even if unrecognized"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Structural variant outer start. If the coordinate system is either 0-based or 1-based, then start position is inclusive. Structural variant outer end. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <requirements value="Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension)."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <isModifier value="true"/> <isModifierReason value="Modifier extensions are expected to modify the meaning or interpretation of the element that contains them"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="MolecularSequence.relative.startingSequence.genomeAssembly"> <path value="MolecularSequence.relative.startingSequence.genomeAssembly"/> <short value="The genome assembly used for starting sequence, e.g. GRCh38"/> <definition value="The genome assembly used for starting sequence, e.g. GRCh38."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.genomeAssembly"/> <min value="0"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <condition value="msq-6"/> <condition value="msq-5"/> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="LL1040-6"/> </extension> <strength value="extensible"/> <description value="Human reference sequence NCBI build ID."/> <valueSet value="http://loinc.org/LL1040-6/"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.chromosome"> <path value="MolecularSequence.relative.startingSequence.chromosome"/> <short value="Chromosome Identifier"/> <definition value="Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceontology.org/browser/current_svn/term/SO:0000340))."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.chromosome"/> <min value="0"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <condition value="msq-5"/> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="LL2938-0"/> </extension> <strength value="required"/> <description value="The chromosome containing the sequence."/> <valueSet value="http://loinc.org/LL2938-0/|5.0.0"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.sequence[x]"> <path value="MolecularSequence.relative.startingSequence.sequence[x]"/> <short value="The reference sequence that represents the starting sequence"/> <definition value="The reference sequence that represents the starting sequence."/> <comment value="A starting sequence may be represented in one of three ways: 1. CodeableConcept, using NCBI, LRG or other appropriate code systems 1. a simple string of IUPAC codes 1. a reference to another MolecularSequence resource."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.sequence[x]"/> <min value="0"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <type> <code value="string"/> </type> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> </type> <condition value="msq-6"/> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="Multiple bindings acceptable (NCBI or LRG)"/> </extension> <strength value="example"/> <description value="Multiple bindings acceptable (NCBI or LRG)"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.windowStart"> <path value="MolecularSequence.relative.startingSequence.windowStart"/> <short value="Start position of the window on the starting sequence"/> <definition value="Start position of the window on the starting sequence. This value should honor the rules of the coordinateSystem."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.windowStart"/> <min value="0"/> <max value="1"/> </base> <type> <code value="integer"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.startingSequence.windowEnd"> <path value="MolecularSequence.relative.startingSequence.windowEnd"/> <short value="End position of the window on the starting sequence"/> <definition value="End position of the window on the starting sequence. This value should honor the rules of the coordinateSystem."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.windowEnd"/> <min value="0"/> <max value="1"/> </base> <type> <code value="integer"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.startingSequence.orientation"> <path value="MolecularSequence.relative.startingSequence.orientation"/> <short value="sense | antisense"/> <definition value="A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.orientation"/> <min value="0"/> <max value="1"/> </base> <type> <code value="code"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="orientationType"/> </extension> <strength value="required"/> <description value="Type for orientation"/> <valueSet value="http://hl7.org/fhir/ValueSet/orientation-type|5.0.0"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.strand"> <path value="MolecularSequence.relative.startingSequence.strand"/> <short value="watson | crick"/> <definition value="An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.startingSequence.strand"/> <min value="0"/> <max value="1"/> </base> <type> <code value="code"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="strandType"/> </extension> <strength value="required"/> <description value="Type for strand"/> <valueSet value="http://hl7.org/fhir/ValueSet/strand-type|5.0.0"/> </binding> </element> <element id="MolecularSequence.relative.edit"> <path value="MolecularSequence.relative.edit"/> <short value="Changes in sequence from the starting sequence"/> <definition value="Changes in sequence from the starting sequence."/> <min value="0"/> <max value="*"/> <base> <path value="MolecularSequence.relative.edit"/> <min value="0"/> <max value="*"/> </base> <type> <code value="BackboneElement"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.id"> <path value="MolecularSequence.relative.edit.id"/> <representation value="xmlAttr"/> <short value="Unique id for inter-element referencing"/> <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <!-- Note: special primitive values have a FHIRPath system type. e.g. this is compiler magic (j) --> <type> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> <valueUrl value="string"/> </extension> <code value="http://hl7.org/fhirpath/System.String"/> </type> <condition value="ele-1"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="MolecularSequence.relative.edit.extension"> <path value="MolecularSequence.relative.edit.extension"/> <short value="Additional content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.of the element. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="MolecularSequence.relative.edit.modifierExtension"> <path value="MolecularSequence.relative.edit.modifierExtension"/> <short value="Extensions that cannot be ignored even if unrecognized"/> <definition value="May be used to represent additional information that is not part of the basic definitionof the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.ht ml#modifierExtension). Modifier extensions are expected to modify the meaning or interpretation of the element that contains them Structural variant inner start. If the coordinate system is either 0-based or 1-based, then start position is inclusive. Structural variant inner end. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) Whether the sequence is numbered starting at 0 (0-based numbering or coordinates, inclusive start, exclusive end) or starting at 1 (1-based numbering, inclusive start and inclusive end). A sequence that is used as a reference to describe variants that are present in a sequence analyzed. Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString; (genomeBuild.count()+referenceSeqId.count()+ referenceSeqPointer.count()+ referenceSeqString.count() ) = 1 count(f:genomeBuild)+count(f:referenceSeqId)+count(f:referenceSeqPointer)+count(f:referenceSeqString )=1 (exists(f:chromosome) and exists(f:genomeBuild)) or (not(exists(f:chromosome)) and not(exists(f:geno meBuild)))of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <requirements value="Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](extensibility.html#modifierExtension)."/> <alias value="extensions"/> <alias value="user content"/> <alias value="modifiers"/> <min value="0"/> <max value="*"/> <base> <path value="BackboneElement.modifierExtension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/Extension"/> </constraint> <isModifier value="true"/> <isModifierReason value="Modifier extensions are expected to modify the meaning or interpretation of the element that contains them"/> <isSummary value="true"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="MolecularSequence.relative.edit.start"> <path value="MolecularSequence.relative.edit.start"/> <short value="Start position of the edit on the starting sequence"/> <definition value="Start position of the edit on the starting sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.edit.start"/> <min value="0"/> <max value="1"/> </base> <type> <code value="integer"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.end"> <path value="MolecularSequence.relative.edit.end"/> <short value="End position of the edit on the starting sequence"/> <definition value="End position of the edit on the starting sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.edit.end"/> <min value="0"/> <max value="1"/> </base> <type> <code value="integer"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.replacementSequence"> <path value="MolecularSequence.relative.edit.replacementSequence"/> <short value="Allele that was observed"/> <definition value="Allele that was observed. Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.edit.replacementSequence"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.replacedSequence"> <path value="MolecularSequence.relative.edit.replacedSequence"/> <short value="Allele in the starting sequence"/> <definition value="Allele in the starting sequence. Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the starting sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end."/> <min value="0"/> <max value="1"/> <base> <path value="MolecularSequence.relative.edit.replacedSequence"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() or (children().count() > id.count())"/> <source value="http://hl7.org/fhir/StructureDefinition/Element"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> </snapshot> <differential> <element id="MolecularSequence"> <path value="MolecularSequence"/> <short value="Representation of a molecular sequence"/> <definition value="Representation of a molecular sequence."/> <min value="0"/> <max value="*"/> <mustSupport value="false"/> <isModifier value="false"/> <mapping> <identity value="w5"/> <map value="clinical.diagnostics"/> </mapping> </element> <element id="MolecularSequence.identifier"> <path value="MolecularSequence.identifier"/> <short value="Unique ID for this particular sequence"/> <definition value="A unique identifier for this particular sequence instance."/> <requirements value="Allows sequences to be distinguished and referenced."/> <min value="0"/> <max value="*"/> <type> <code value="Identifier"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <mapping> <identity value="w5"/> <map value="FiveWs.identifier"/> </mapping> </element> <element id="MolecularSequence.type"> <path value="MolecularSequence.type"/> <short value="aa | dna | rna"/> <definition value="Amino Acid Sequence/ DNA Sequence / RNA Sequence."/> <min value="0"/> <max value="1"/> <type> <code value="code"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="sequenceType"/> </extension> <strength value="required"/> <description value="Type if a sequence -- DNA, RNA, or amino acid sequence."/> <valueSet value="http://hl7.org/fhir/ValueSet/sequence-type|5.0.0"/> </binding> </element> <element id="MolecularSequence.subject"> <path value="MolecularSequence.subject"/> <short value="Subject this sequence is associated too"/> <definition value="Indicates the subject this sequence is associated too."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Patient"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Group"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Substance"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/BiologicallyDerivedProduct"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/NutritionProduct"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.focus"> <path value="MolecularSequence.focus"/> <short value="What the molecular sequence is about, when it is not about the subject of record"/> <definition value="The actual focus of a molecular sequence when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the subject would be the child (proband) and the focus would be the parent."/> <min value="0"/> <max value="*"/> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Resource"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.specimen"> <path value="MolecularSequence.specimen"/> <short value="Specimen used for sequencing"/> <definition value="Specimen used for sequencing."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Specimen"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.device"> <path value="MolecularSequence.device"/> <short value="The method for sequencing"/> <definition value="The method for sequencing, for example, chip information."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Device"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.performer"> <path value="MolecularSequence.performer"/> <short value="Who should be responsible for test result"/> <definition value="The organization or lab that should be responsible for this result."/> <min value="0"/> <max value="1"/> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Organization"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.literal"> <path value="MolecularSequence.literal"/> <short value="Sequence that was observed"/> <definition value="Sequence that was observed."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.formatted"> <path value="MolecularSequence.formatted"/> <short value="Embedded file or a link (URL) which contains content to represent the sequence"/> <definition value="Sequence that was observed as file content. Can be an actual file contents, or referenced by a URL to an external system."/> <min value="0"/> <max value="*"/> <type> <code value="Attachment"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative"> <path value="MolecularSequence.relative"/> <short value="A sequence defined relative to another sequence"/> <definition value="A sequence defined relative to another sequence."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.coordinateSystem"> <path value="MolecularSequence.relative.coordinateSystem"/> <short value="Ways of identifying nucleotides or amino acids within a sequence"/> <definition value="These are different ways of identifying nucleotides or amino acids within a sequence. Different databases and file types may use different systems. For detail definitions, see https://loinc.org/92822-6/ for more detail."/> <min value="1"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="LL5323-2"/> </extension> <strength value="extensible"/> <description value="Genomic coordinate system."/> <valueSet value="http://loinc.org/LL5323-2/"/> </binding> </element> <element id="MolecularSequence.relative.ordinalPosition"> <path value="MolecularSequence.relative.ordinalPosition"/> <short value="Indicates the order in which the sequence should be considered when putting multiple 'relative' elements together"/> <definition value="Indicates the order in which the sequence should be considered when putting multiple 'relative' elements together."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> </element> <element id="MolecularSequence.relative.sequenceRange"> <path value="MolecularSequence.relative.sequenceRange"/> <short value="Indicates the nucleotide range in the composed sequence when multiple 'relative' elements are used together"/> <definition value="Indicates the nucleotide range in the composed sequence when multiple 'relative' elements are used together."/> <min value="0"/> <max value="1"/> <type> <code value="Range"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="false"/> </element> <element id="MolecularSequence.relative.startingSequence"> <path value="MolecularSequence.relative.startingSequence"/> <short value="A sequence used as starting sequence"/> <definition value="A sequence that is used as a starting sequence to describe variants that are present in a sequence analyzed."/> <min value="0"/> <max value="1"/> <type> <code value="BackboneElement"/> </type> <constraint> <key value="msq-6"/> <severity value="error"/> <human value="Have and only have one of the following elements in startingSequence: 1. genomeAssembly; 2 sequence"/> <expression value="genomeAssembly.exists() xor sequence.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> </constraint> <constraint> <key value="msq-5"/> <severity value="error"/> <human value="Both genomeAssembly and chromosome must be both contained if either one of them is contained"/> <expression value="chromosome.exists() = genomeAssembly.exists()"/> <source value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> </constraint> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.startingSequence.genomeAssembly"> <path value="MolecularSequence.relative.startingSequence.genomeAssembly"/> <short value="The genome assembly used for starting sequence, e.g. GRCh38"/> <definition value="The genome assembly used for starting sequence, e.g. GRCh38."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <condition value="msq-6"/> <condition value="msq-5"/> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="LL1040-6"/> </extension> <strength value="extensible"/> <description value="Human reference sequence NCBI build ID."/> <valueSet value="http://loinc.org/LL1040-6/"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.chromosome"> <path value="MolecularSequence.relative.startingSequence.chromosome"/> <short value="Chromosome Identifier"/> <definition value="Structural unit composed of a nucleic acid molecule which controls its own replicationthrough the interaction of specific proteins at one or more origins of replication ([SO:0000340](htt p://www.sequenceontology.org/browser/current_svn/term/SO:0000340)). The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used. A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand. Reference identifier of reference sequence submitted to NCBI. It must match the type in the MolecularSequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences. An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm. Start position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. End position of the window on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. The definition of variant here originates from Sequence ontology ([variant_of](http://www.sequenceon tology.org/browser/current_svn/term/variant_of)). This element can represent amino acid or nucleic sequence change(including insertion,deletion,SNP,etc.) It can represent some complex mutation or segment variation with the assist of CIGAR string. Start position of the variant on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. End position of the variant on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end. An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenc eontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end. Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow/Content/Vault/Informatics/Sequenc ing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm). Sequence that was observed. It is the result marked by referenceSeq along with variant records on referenceSeq. This shall start from referenceSeq.windowStart and end by referenceSeq.wind owEnd. An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/browser/current_svn /term/SO:0001686)). Start position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive. End position of the sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceon tology.org/browser/current_svn/term/SO:0001685)). True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event. True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event. False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here. False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here. The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar). Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall). The number of true positives if the GQ score threshold was set to "score" field value. The number of false positives if the GQ score threshold was set to "score" field value. The number of false negatives if the GQ score threshold was set to "score" field value. Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence. Configurations of the external repository. The repository shall store target's observedSeq or records related with target's observedSeq. Click and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource. Id of the variant in this external repository. The server will understand how to use this id to call for more info about datasets in external repository. Id of the variantset in this external repository. The server will understand how to use this id to call for more info about variantsets in external repository. Structural variant outer start. If the coordinate system is either 0-based or 1-based, then start position is inclusive. Structural variant outer end. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position. Structural variant inner start. If the coordinate system is either 0-based or 1-based, then start position is inclusive. Structural variant inner end. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceontology.org/browser/current_svn/term/SO:0000340))."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <condition value="msq-5"/> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="LL2938-0"/> </extension> <strength value="required"/> <description value="The chromosome containing the sequence."/> <valueSet value="http://loinc.org/LL2938-0/|5.0.0"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.sequence[x]"> <path value="MolecularSequence.relative.startingSequence.sequence[x]"/> <short value="The reference sequence that represents the starting sequence"/> <definition value="The reference sequence that represents the starting sequence."/> <comment value="A starting sequence may be represented in one of three ways: 1. CodeableConcept, using NCBI, LRG or other appropriate code systems 1. a simple string of IUPAC codes 1. a reference to another MolecularSequence resource."/> <min value="0"/> <max value="1"/> <type> <code value="CodeableConcept"/> </type> <type> <code value="string"/> </type> <type> <code value="Reference"/> <targetProfile value="http://hl7.org/fhir/StructureDefinition/MolecularSequence"/> </type> <condition value="msq-6"/> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="Multiple bindings acceptable (NCBI or LRG)"/> </extension> <strength value="example"/> <description value="Multiple bindings acceptable (NCBI or LRG)"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.windowStart"> <path value="MolecularSequence.relative.startingSequence.windowStart"/> <short value="Start position of the window on the starting sequence"/> <definition value="Start position of the window on the starting sequence. This value should honor the rules of the coordinateSystem."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.startingSequence.windowEnd"> <path value="MolecularSequence.relative.startingSequence.windowEnd"/> <short value="End position of the window on the starting sequence"/> <definition value="End position of the window on the starting sequence. This value should honor the rules of the coordinateSystem."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.startingSequence.orientation"> <path value="MolecularSequence.relative.startingSequence.orientation"/> <short value="sense | antisense"/> <definition value="A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand."/> <min value="0"/> <max value="1"/> <type> <code value="code"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="orientationType"/> </extension> <strength value="required"/> <description value="Type for orientation"/> <valueSet value="http://hl7.org/fhir/ValueSet/orientation-type|5.0.0"/> </binding> </element> <element id="MolecularSequence.relative.startingSequence.strand"> <path value="MolecularSequence.relative.startingSequence.strand"/> <short value="watson | crick"/> <definition value="An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm."/> <min value="0"/> <max value="1"/> <type> <code value="code"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="strandType"/> </extension> <strength value="required"/> <description value="Type for strand"/> <valueSet value="http://hl7.org/fhir/ValueSet/strand-type|5.0.0"/> </binding> </element> <element id="MolecularSequence.relative.edit"> <path value="MolecularSequence.relative.edit"/> <short value="Changes in sequence from the starting sequence"/> <definition value="Changes in sequence from the starting sequence."/> <min value="0"/> <max value="*"/> <type> <code value="BackboneElement"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.start"> <path value="MolecularSequence.relative.edit.start"/> <short value="Start position of the edit on the starting sequence"/> <definition value="Start position of the edit on the starting sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.end"> <path value="MolecularSequence.relative.edit.end"/> <short value="End position of the edit on the starting sequence"/> <definition value="End position of the edit on the starting sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position."/> <min value="0"/> <max value="1"/> <type> <code value="integer"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.replacementSequence"> <path value="MolecularSequence.relative.edit.replacementSequence"/> <short value="Allele that was observed"/> <definition value="Allele that was observed. Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> <element id="MolecularSequence.relative.edit.replacedSequence"> <path value="MolecularSequence.relative.edit.replacedSequence"/> <short value="Allele in the starting sequence"/> <definition value="Allele in the starting sequence. Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the starting sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end."/> <min value="0"/> <max value="1"/> <type> <code value="string"/> </type> <mustSupport value="false"/> <isModifier value="false"/> <isSummary value="true"/> </element> </differential> </ StructureDefinition >
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.
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FHIR
Release
4B
(v4.3.0)
hl7.fhir.r4b.core#4.3.0
R5
hl7.fhir.core#5.0.0
generated
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Sat,
May
28,
2022
12:56+1000.
Sun,
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26,
2023
15:25+1100.
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