Literature

Batch Information

  • Submitted By: Ben Ainscough
  • Submitter Affiliation: McDonnell Genome Institute, Washington University School of Medicine
  • Submission Date: 2-OCT-2014
  • Reference URL: Visit
  • Last Review Date: 2-OCT-2014
  • Total Variants: 119
  • View Variants: Literature

Justification for Inclusion

This is a list of variants curated from the literature in the original release of DoCM. These variants were all included because they have and obvious functional or clinical evidence outlined in the accompanying publication. To be included these variants needed to outline how the variant was observed to be pathogenic in a particular disease in a model organism study or provide useful clinical information, like prognostic and diagnostic value based on the presence of this variant. Disease ontology ids and transcripts were chosen to most closely resemble the mutation described in the publication, in the event that multiple transcripts were possible, the longest transcript was chosen.

Submission Status

Chr Start Stop Ref Var DOID Pubmed Id Status Message
12 25398284 25398284 C G DOID:9256 23182985 included
4 55594221 55594221 A G DOID:1909 7530509 included
3 178938860 178938860 A C DOID:1612 15805248 included
10 89692904 89692904 C T DOID:1319 11274365 included
13 28592641 28592641 T A DOID:9119 24046014 included
1 115256528 115256529 TT CA DOID:1909 20406486 included
1 65312347 65312347 C A DOID:9952 21680795 included
14 105246551 105246551 C T DOID:10283 22610119 included
2 209113112 209113112 C T DOID:3069 19798509 included
2 209113112 209113112 C T DOID:3069 19818334 included
4 55593610 55593610 T C DOID:1909 9438854 included
5 112175303 112175303 C T DOID:9256 1528264 included
7 55241708 55241708 G A DOID:3908 23945392 included
9 133738356 133738356 G C DOID:8552 15256422 included
9 133748283 133748283 C T DOID:8552 20963643 included
9 133748414 133748414 T G DOID:8552 14745431 included
9 133748414 133748414 T G DOID:8552 19768693 included
11 533874 533874 T A DOID:3151 22726224 included
11 534285 534285 C A DOID:3284 20859122 included
11 534289 534289 C G DOID:9256 16478791 included
12 25378562 25378562 C T DOID:9256 21398618 included
12 25380275 25380275 T A DOID:9256 22722830 included
12 25380275 25380275 T A DOID:9256 23325582 included
12 25380275 25380275 T G DOID:9256 22722830 included
12 25380275 25380275 T G DOID:9256 23325582 included
12 25380283 25380283 C T DOID:9256 21398618 included
12 25398262 25398262 C A DOID:0001816 24740626 included
12 25398262 25398262 C G DOID:0001816 24740626 included
12 25398281 25398281 C A DOID:1781 24628546 included
12 25398281 25398281 C T DOID:9256 21398618 included
12 25398281 25398281 C T DOID:9256 23182985 included
12 25398281 25398281 C T DOID:9256 24558511 included
12 25398284 25398284 C A DOID:3908 21398618 included
12 25398284 25398284 C A DOID:3908 22235099 included
12 25398284 25398284 C A DOID:3908 22897852 included
1 65312347 65312347 C A DOID:9952 19838194 included
12 25398284 25398284 C A DOID:9256 19881948 included
12 25398284 25398284 C A DOID:9256 21398618 included
12 25398284 25398284 C G DOID:9253 22282465 included
1 65312347 65312347 C A DOID:8997 16239216 included
12 25398284 25398284 C T DOID:1324 25044103 included
1 65312347 65312347 C A DOID:9119 21436584 included
1 65312347 65312347 C A DOID:9119 21680795 included
1 65312347 65312347 C A DOID:9952 19139102 included
1 65312347 65312347 C A DOID:9952 19470474 included
12 25398285 25398285 C A DOID:3910 25044103 included
12 25398285 25398285 C A DOID:9256 23182985 included
10 123274794 123274794 T C DOID:2871 21367659 included
10 123274803 123274803 G C DOID:2871 21367659 included
10 123279677 123279677 G C DOID:2871 21367659 included
10 43609948 43609948 T C DOID:3973 15184865 included
10 43609950 43609950 C G DOID:3973 20943719 included
10 43615568 43615569 GC TT DOID:3973 15184865 included
10 43617416 43617416 T C DOID:3973 11351254 included
12 25398285 25398285 C G DOID:9256 22722830 included
1 115256528 115256529 TT CA DOID:1909 20149136 included
1 115256529 115256529 T A DOID:1909 20149136 included
10 89692904 89692904 C G DOID:0050866 21824802 included
1 115256529 115256529 T A DOID:1909 20406486 included
1 115256529 115256529 T G DOID:3908 24370118 included
1 115256530 115256530 G A DOID:1909 23076151 included
1 115258730 115258730 C T DOID:1909 24918823 included
1 115256528 115256528 T G DOID:1909 23076151 included
1 43814979 43814979 G A DOID:4971 20151976 included
1 115256528 115256528 T A DOID:1909 23076151 included
1 115258744 115258744 C T DOID:1909 23431193 included
1 115258745 115258745 C G DOID:1909 22962325 included
1 115258748 115258748 C G DOID:8552 23134356 included
1 43814978 43814978 A T DOID:2226 21228032 included
1 43814979 43814979 G A DOID:2224 18451306 included
1 43814979 43814979 G A DOID:2224 18528423 included
1 43814979 43814979 G A DOID:2224 19608689 included
1 43814979 43814979 G A DOID:2224 20151976 included
1 43814979 43814979 G A DOID:2226 18451306 included
1 43814979 43814979 G A DOID:2226 18528423 included
1 43814979 43814979 G A DOID:2226 23970983 included
1 43814979 43814979 G A DOID:4971 18528423 included
10 89711900 89711900 G A DOID:1319 24721394 included
11 533874 533874 T A DOID:3151 22256804 included
12 25398285 25398285 C G DOID:9256 23182985 included
12 25398285 25398285 C T DOID:3908 18594010 included
13 28592640 28592640 A C DOID:9119 15256420 included
13 28592640 28592640 A T DOID:9119 15256420 included
13 28592641 28592641 T A DOID:9119 14604974 included
13 28592641 28592641 T A DOID:9119 17606455 included
13 28592642 28592642 C G DOID:9119 14604974 included
13 28592642 28592642 C G DOID:9119 17047150 included
13 28592642 28592642 C G DOID:9119 24046014 included
13 48941648 48941648 C T DOID:768 25754945 included
13 48942685 48942685 C T DOID:768 25754945 included
13 48955538 48955538 C T DOID:768 25754945 included
14 105246551 105246551 C T DOID:10283 22722839 included
14 105246551 105246551 C T DOID:1612 19418217 included
14 105246551 105246551 C T DOID:1612 19487299 included
14 105246551 105246551 C T DOID:1612 21512767 included
14 105246551 105246551 C T DOID:1612 22538770 included
14 105246551 105246551 C T DOID:1612 22722201 included
14 105246551 105246551 C T DOID:1612 23237847 included
14 105246551 105246551 C T DOID:2870 19853286 included
14 105246551 105246551 C T DOID:3347 24190505 included
14 105246551 105246551 C T DOID:3565 23348505 included
14 105246551 105246551 C T DOID:3908 23728071 included
14 105246551 105246551 C T DOID:3910 22980975 included
14 105246551 105246551 C T DOID:5409 24657128 included
14 105246551 105246551 C T DOID:9256 23700467 included
14 105246551 105246551 C T DOID:9256 23934607 included
17 37880220 37880220 T C DOID:1612 18413839 included
17 37880220 37880220 T C DOID:1612 22046346 included
17 37881000 37881000 G C DOID:1612 22046346 included
17 37881000 37881000 G C DOID:1612 24516025 included
17 37881000 37881000 G T DOID:1612 22046346 included
17 37881000 37881000 G T DOID:1612 24516025 included
17 37881332 37881332 G A DOID:1612 16397024 included
17 7577121 7577121 G A DOID:684 15004724 included
17 7577538 7577538 C T DOID:162 24651012 included
17 7577538 7577538 C T DOID:684 15004724 included
17 7577539 7577539 G A DOID:9119 20013323 included
17 7577548 7577548 C T DOID:162 17015838 included
17 7578406 7578406 C T DOID:162 11101847 included
17 7578406 7578406 C T DOID:162 18391940 included
19 17948009 17948009 G A DOID:2226 20372971 included
19 17948009 17948009 G A DOID:2226 20385788 included
19 17948009 17948009 G A DOID:2226 22271575 included
19 17954215 17954215 G T DOID:9952 20372971 included
19 3118942 3118942 A T DOID:6039 21444680 included
19 3118942 3118942 A T DOID:6039 24141786 included
19 40741860 40741860 C T DOID:3908 21479466 included
19 40742220 40742220 T C DOID:9256 16094359 included
2 198266832 198266832 T A DOID:9119 23395771 included
2 198266832 198266832 T G DOID:9119 23395771 included
2 198266833 198266833 T A DOID:9119 23395771 included
2 198266833 198266833 T C DOID:9119 23395771 included
2 198266833 198266833 T G DOID:9119 23395771 included
2 198266834 198266834 T A DOID:9119 23395771 included
2 198266834 198266834 T G DOID:9119 23395771 included
2 209113113 209113113 G T DOID:3069 21352804 included
3 10183797 10183797 T A DOID:4467 11921283 included
3 10191480 10191480 T A DOID:4467 11921283 included
3 10191506 10191506 C T DOID:4467 7660122 included
3 178916876 178916876 G A DOID:9256 19366826 included
3 178921553 178921553 T A DOID:9256 19366826 included
3 178921553 178921553 T G DOID:9256 19366826 included
3 178936082 178936082 G A DOID:1612 23066039 included
3 178936091 178936091 G A DOID:1612 23066039 included
3 178936091 178936091 G C DOID:11934 23408298 included
3 178936092 178936092 A G DOID:1909 24265155 included
3 178952074 178952074 G A DOID:9256 15930273 included
3 178952074 178952074 G T DOID:9256 15930273 included
3 178952084 178952084 C T DOID:0050866 21824802 included
3 178952090 178952090 G C DOID:0050866 21824802 included
3 37067240 37067240 T A DOID:3910 25823662 included
3 41266097 41266097 G C DOID:1909 19234609 included
3 41266136 41266136 T C DOID:0050891 24788118 included
3 41266137 41266137 C T DOID:0050891 24788118 included
4 1803568 1803568 C G DOID:4007 19381019 included
4 1806089 1806089 G T DOID:4007 19381019 included
4 1806099 1806099 A G DOID:4007 19381019 included
4 55141036 55141036 T A DOID:9253 16954519 included
4 55141036 55141036 T A DOID:9253 17087936 included
4 55152092 55152093 GA AT DOID:9253 16954519 included
4 55152092 55152093 GA AT DOID:9253 17087936 included
4 55152093 55152093 A T DOID:9253 15685537 included
4 55152093 55152093 A T DOID:9253 16954519 included
4 55152104 55152104 G T DOID:9253 15928335 included
4 55593609 55593609 G A DOID:2226 19175693 included
4 55593610 55593610 T A DOID:1909 16046538 included
4 55593610 55593610 T A DOID:1909 17372901 included
4 55593610 55593610 T C DOID:1909 11276010 included
4 55593610 55593610 T C DOID:1909 15790786 included
4 55593610 55593610 T C DOID:1909 16908931 included
4 55593610 55593610 T C DOID:1909 17372901 included
4 55593610 55593610 T C DOID:1909 18980976 included
4 55593610 55593610 T C DOID:1909 19812602 included
4 55593610 55593610 T C DOID:1909 21159146 included
4 55593610 55593610 T C DOID:1909 24755198 included
4 55593610 55593610 T C DOID:1909 7530509 included
4 55593613 55593613 T A DOID:9253 19164557 included
4 55593613 55593613 T G DOID:9253 19737976 included
4 55593661 55593661 T C DOID:1909 17372901 included
4 55594221 55594221 A G DOID:1909 11276010 included
4 55594221 55594221 A G DOID:1909 15790786 included
4 55594221 55594221 A G DOID:1909 16908931 included
4 55594221 55594221 A G DOID:1909 17372901 included
4 55594221 55594221 A G DOID:1909 18510589 included
4 55594221 55594221 A G DOID:1909 18980976 included
4 55594221 55594221 A G DOID:1909 20545949 included
4 55594221 55594221 A G DOID:1909 9438854 included
4 55594221 55594221 A G DOID:9253 11526490 included
4 55594221 55594221 A G DOID:9253 17824795 included
4 55594258 55594258 T A DOID:1909 22932406 included
4 55594258 55594258 T C DOID:9253 15685537 included
4 55594258 55594258 T C DOID:9253 17363509 included
4 55595519 55595519 C T DOID:9253 15236194 included
4 55595519 55595519 C T DOID:9253 15685537 included
4 55599320 55599320 G C DOID:9253 19164557 included
4 55599320 55599320 G C DOID:9253 20147452 included
4 55599320 55599320 G T DOID:1909 16741525 included
4 55599320 55599320 G T DOID:9253 15790786 included
4 55599320 55599320 G T DOID:9253 19164557 included
4 55599321 55599321 A T DOID:9253 19164557 included
4 55599321 55599321 A T DOID:9254 15972446 included
4 55599321 55599321 A T DOID:9254 16912224 included
4 55599321 55599321 A T DOID:9254 18024392 included
4 55599340 55599340 T A DOID:9253 15685537 included
4 55599340 55599340 T A DOID:9253 17699867 included
4 55599340 55599340 T G DOID:9253 15685537 included
4 55599340 55599340 T G DOID:9253 17699867 included
4 55602694 55602694 G A DOID:9253 15790786 included
5 112173917 112173917 C T DOID:9256 1528264 included
5 112173917 112173917 C T DOID:9256 24651453 included
5 112173917 112173917 C T DOID:9256 8187091 included
5 112174631 112174631 C T DOID:3910 18948947 included
5 112174631 112174631 C T DOID:9256 21901162 included
5 112174631 112174631 C T DOID:9256 2281069 included
5 112174631 112174631 C T DOID:9256 23700467 included
5 112174631 112174631 C T DOID:9256 8187091 included
5 112175207 112175207 G T DOID:9256 1528264 included
5 112175207 112175207 G T DOID:9256 24861525 included
5 112175207 112175207 G T DOID:9256 8187091 included
5 112175303 112175303 C T DOID:9256 10737795 included
5 112175303 112175303 C T DOID:9256 1338904 included
5 112175303 112175303 C T DOID:9256 22810696 included
5 112175303 112175303 C T DOID:9256 23204322 included
5 112175303 112175303 C T DOID:9256 24861525 included
5 112175303 112175303 C T DOID:9256 8187091 included
5 112175390 112175390 C T DOID:9256 10737795 included
5 112175390 112175390 C T DOID:9256 1338904 included
5 112175390 112175390 C T DOID:9256 1528264 included
5 112175390 112175390 C T DOID:9256 22810696 included
5 112175390 112175390 C T DOID:9256 24518971 included
5 112175390 112175390 C T DOID:9256 24861525 included
5 112175423 112175423 C T DOID:9256 17704924 included
5 112175423 112175423 C T DOID:9256 18992635 included
5 112175423 112175423 C T DOID:9256 23700467 included
5 112175423 112175423 C T DOID:9256 8187091 included
5 112175426 112175426 G T DOID:9256 1528264 included
5 112175426 112175426 G T DOID:9256 22810696 included
5 112175426 112175426 G T DOID:9256 24861525 included
5 112175426 112175426 G T DOID:9256 8187091 included
5 112175576 112175576 C T DOID:9256 10737795 included
5 112175576 112175576 C T DOID:9256 12374230 included
5 112175576 112175576 C T DOID:9256 1528264 included
5 112175576 112175576 C T DOID:9256 22810696 included
5 112175576 112175576 C T DOID:9256 22848674 included
5 112175576 112175576 C T DOID:9256 8187091 included
5 112175639 112175639 C T DOID:9256 10737795 included
5 112175639 112175639 C T DOID:9256 12374230 included
5 112175639 112175639 C T DOID:9256 1338904 included
5 112175639 112175639 C T DOID:9256 1528264 included
5 112175639 112175639 C T DOID:9256 18992635 included
5 112175639 112175639 C T DOID:9256 21901162 included
5 112175639 112175639 C T DOID:9256 22810696 included
5 112175639 112175639 C T DOID:9256 23204322 included
5 112175639 112175639 C T DOID:9256 23700467 included
5 112175639 112175639 C T DOID:9256 24861525 included
5 112175639 112175639 C T DOID:9256 8187091 included
5 67589138 67589138 G A DOID:162 19962457 included
5 67589138 67589138 G C DOID:162 19962457 included
5 67591099 67591099 C A DOID:162 24459181 included
5 67591099 67591099 C G DOID:162 24459181 included
7 116417463 116417463 C T DOID:4451 18829470 included
7 116423413 116423413 T C DOID:4451 11750879 included
7 116423413 116423413 T C DOID:4451 24121490 included
7 116423414 116423414 A G DOID:4451 11750879 included
7 140453134 140453134 T C DOID:1909 12068308 included
7 140453134 140453134 T C DOID:1909 14679157 included
7 140453134 140453134 T C DOID:1909 21639808 included
7 140453134 140453134 T C DOID:1909 22048237 included
7 140453134 140453134 T C DOID:1909 22663011 included
7 140453134 140453134 T C DOID:1909 22972589 included
7 140453135 140453136 CA AT DOID:1909 23317446 included
7 140453135 140453136 CA TT DOID:1909 21639808 included
7 140453135 140453136 CA TT DOID:1909 23031422 included
7 140453135 140453136 CA TT DOID:1909 23918947 included
7 140453135 140453136 CA TT DOID:1909 24508103 included
7 140453135 140453136 CA TT DOID:219 22281684 included
7 140453136 140453136 A T DOID:1909 21639808 included
7 140453136 140453136 A T DOID:1909 23031422 included
7 140453136 140453136 A T DOID:1909 23918947 included
7 140453136 140453136 A T DOID:1909 24508103 included
7 140453136 140453136 A T DOID:219 22281684 included
7 140453136 140453136 A T DOID:2394 12068308 included
7 140453136 140453136 A T DOID:2394 21639808 included
7 140453136 140453136 A T DOID:2394 21683865 included
7 140453136 140453136 A T DOID:2394 21975775 included
7 140453136 140453137 AC CT DOID:1909 23317446 included
7 140453136 140453137 AC TT DOID:1909 20630094 included
7 140453136 140453137 AC TT DOID:1909 23918947 included
7 140453136 140453137 AC TT DOID:1909 24508103 included
7 140453137 140453137 C A DOID:1909 19404918 included
7 140453137 140453137 C A DOID:1909 21750866 included
7 140453137 140453137 C T DOID:1909 23031422 included
7 140453145 140453145 A T DOID:1909 2493360 included
7 140453149 140453149 C G DOID:9256 22180495 included
7 140453154 140453154 T G DOID:1909 2872605 included
7 140453161 140453161 T C DOID:1909 24710085 included
7 140453179 140453179 C T DOID:1909 20130576 included
7 140453179 140453179 C T DOID:1909 24926260 included
7 140453193 140453193 T C DOID:8552 24446311 included
7 140481402 140481403 CC GA DOID:1909 16096377 included
7 140481411 140481411 C T DOID:1909 23273605 included
7 140481417 140481417 C A DOID:1612 12068308 included
7 140481417 140481417 C A DOID:1612 22538770 included
7 140481417 140481417 C T DOID:1040 18060073 included
7 140481418 140481418 C T DOID:1909 24918823 included
7 140481478 140481478 G A DOID:1909 18060073 included
7 55241707 55241707 G A DOID:3908 16187797 included
7 55241707 55241707 G A DOID:3908 16204070 included
7 55241707 55241707 G T DOID:3908 18199554 included
7 55241707 55241707 G T DOID:3908 19671738 included
7 55241708 55241708 G C DOID:3908 18458038 included
7 55241708 55241708 G C DOID:3908 2302402 included
7 55241708 55241708 G C DOID:3908 23242437 included
7 55242428 55242428 C T DOID:3908 23485129 included
7 55242430 55242430 G A DOID:3908 19455431 included
7 55242433 55242433 G A DOID:3908 23485129 included
7 55242455 55242455 T C DOID:3908 19147750 included
7 55242464 55242464 A G DOID:5520 20415598 included
7 55242464 55242464 A G DOID:5520 21531084 included
7 55242478 55242478 G C DOID:3908 22622260 included
7 55242478 55242478 G C DOID:3910 15737014 included
7 55242487 55242487 C T DOID:3908 18089823 included
7 55242511 55242511 G A DOID:3908 19147750 included
7 55242511 55242511 G A DOID:3908 23800712 included
7 55242511 55242511 G T DOID:3908 16730855 included
7 55242511 55242511 G T DOID:3908 17545553 included
7 55249005 55249005 G T DOID:1107 16707764 included
7 55249005 55249005 G T DOID:3908 17653080 included
7 55249005 55249005 G T DOID:3908 19147750 included
7 55249020 55249020 A G DOID:3908 18628075 included
7 55249071 55249071 C T DOID:3908 16258541 included
7 55249071 55249071 C T DOID:3908 20033049 included
7 55249071 55249071 C T DOID:3908 21233402 included
7 55249071 55249071 C T DOID:3908 22215752 included
7 55259514 55259514 C A DOID:3908 19455431 included
7 55259514 55259514 C A DOID:3908 21718596 included
7 55259515 55259515 T G DOID:3908 16204070 included
7 55259515 55259515 T G DOID:3908 19455431 included
9 133738330 133738330 A G DOID:8552 12399961 included
9 133738330 133738330 A G DOID:8552 12576318 included
9 133738330 133738330 A G DOID:8552 12623848 included
9 133738330 133738330 A G DOID:8552 18223278 included
9 133738330 133738330 A G DOID:8552 20367437 included
9 133738330 133738330 A G DOID:8552 21888027 included
9 133738330 133738330 A G DOID:8552 21895409 included
9 133738330 133738330 A G DOID:8552 23676790 included
9 133738342 133738342 C G DOID:8552 12623848 included
9 133738342 133738342 C G DOID:8552 17008892 included
9 133738342 133738342 C G DOID:8552 18354488 included
9 133738342 133738342 C G DOID:8552 20367437 included
9 133738342 133738342 C G DOID:8552 21221851 included
9 133738349 133738349 G A DOID:8552 11964322 included
9 133738349 133738349 G A DOID:8552 12623848 included
9 133738349 133738349 G A DOID:8552 20367437 included
9 133738349 133738349 G A DOID:8552 21505103 included
9 133738349 133738349 G A DOID:8552 21895409 included
9 133738349 133738349 G A DOID:8552 22870928 included
9 133738349 133738349 G A DOID:8552 23676790 included
9 133738356 133738356 G C DOID:8552 12399961 included
9 133738356 133738356 G C DOID:8552 12623848 included
9 133738356 133738356 G C DOID:8552 20367437 included
9 133738356 133738356 G C DOID:8552 24109527 included
9 133738356 133738356 G T DOID:8552 12623848 included
9 133738356 133738356 G T DOID:8552 15256422 included
9 133738357 133738357 T C DOID:8552 11964322 included
9 133738357 133738357 T C DOID:8552 12399961 included
9 133738357 133738357 T C DOID:8552 14559829 included
9 133738357 133738357 T C DOID:8552 14745431 included
9 133738357 133738357 T C DOID:8552 15256422 included
9 133738357 133738357 T C DOID:8552 15381060 included
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