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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

TGFBR2,
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Esophageal cancer, somatic, 133239 (3)
Loeys-Dietz syndrome 2, 610168 (3)

Genes at Clinical Genomics Database

TGFBR2,
TGFBR2 Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B

Genes at HGMD

Summary

Number of Variants: 3091
Number of Genes: 14

Export to: CSV

CASP5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 11 rs112680102
dbSNP Clinvar
104878040 4.52 G GT DRAGENIndelHardQUAL 0/1 8 FRAME_SHIFT HIGH None None None None None None CASP5|0.002670175|89.33%

CLDN5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 22 . 19511995 5.07 GC G DRAGENIndelHardQUAL 1/1 1 FRAME_SHIFT HIGH None None None None None None CLDN5|0.101200006|50.93%

FAM171B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 2 . 187559063 5.48 C CAAA DRAGENIndelHardQUAL 0/1 4 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None FAM171B|0.143209943|43.96%

FOXF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 6 rs147426137,rs397731476,rs111257067,rs58230522
dbSNP Clinvar
1391085 7.28 G GGGC DRAGENIndelHardQUAL 0/1 2 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.39277 0.39280 0.37182 None None None None None None FOXF2|0.273083947|29.64%

FRG1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 20 rs111939959
dbSNP Clinvar
29628309 7.68 CAGG C DRAGENIndelHardQUAL 0/1 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None FRG1B|0.009509512|81.26%

GRIN3B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 19 rs142516571,rs58448123
dbSNP Clinvar
1009550 7.76 GG... G DRAGENIndelHardQUAL 0|1 3 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.17871 0.17870 0.18604 None None None None None None GRIN3B|0.010791412|80.29%

NUTM2F

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 9 rs150455117
dbSNP Clinvar
97080944 6.03 GAGA G DRAGENIndelHardQUAL 0/1 31 CODON_DELETION MODERATE 0.75419 0.75420 0.29501 None None None None None None NUTM2F|0.000786519|96.75%

PABPC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 8 . 101724625 4.34 CTT C DRAGENIndelHardQUAL 0/1 19 FRAME_SHIFT HIGH None None None None None None PABPC1|0.793315578|6.01%

PCDHA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 5 rs563991668
dbSNP Clinvar
140186988 5.99 AGG A DRAGENIndelHardQUAL 0|1 67 FRAME_SHIFT HIGH 0.34784 0.34780 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%

PPP1R15A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 19 rs751172555
dbSNP Clinvar
49378180 6.97 AT A DRAGENIndelHardQUAL 0/1 25 None None None None None None None None None PPP1R15A|0.005285601|85.45%

PRPF40A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 2 . 153551126 3.07 AT A DRAGENIndelHardQUAL 0/1 2 FRAME_SHIFT HIGH None None None None None None PRPF40A|0.476450901|16.93%

SLC5A10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 17 rs768520700,rs56122861
dbSNP Clinvar
18918510 7.55 A AC... DRAGENIndelHardQUAL 0/1 1 None None None 0.42896 None None None None None None SLC5A10|0.040169483|65.72%

SRRM3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 7 . 75915100 6.18 C CA DRAGENIndelHardQUAL 0/1 2 FRAME_SHIFT HIGH None None None None None None SRRM3|0.050752561|62.44%

TGFBR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 3 rs752580104,rs79375991
dbSNP Clinvar
30691871 3.59 GA G DRAGENIndelHardQUAL 0/1 4 FRAME_SHIFT HIGH None None None None None None TGFBR2|0.932789798|2.72%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 X rs200843143
dbSNP Clinvar
44223752 6.34 GAA G DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None None
View 2388 X . 41075089 5.55 GTT G DRAGENIndelHardQUAL 0/1 3 None None None None None None None None None USP9X|0.885379062|3.82%
View 2388 X rs552204138
dbSNP Clinvar
41005936 6.6 TTG T DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None USP9X|0.885379062|3.82%
View 2388 X rs147306566,rs758415854,rs546761609
dbSNP Clinvar
35671955 6.88 ATT A DRAGENIndelHardQUAL 0/1 1 None None None 0.62570 0.62570 None None None None None None None
View 2388 X rs769204915,rs751681127
dbSNP Clinvar
26685070 6.42 C CTG DRAGENIndelHardQUAL 0/1 1 None None None 0.00477 0.00477 None None None None None None None
View 2388 X rs11447531,rs397687745
dbSNP Clinvar
21997306 7.68 C CT DRAGENIndelHardQUAL 0/1 5 None None None 0.68556 0.68560 None None None None None None SMS|0.583211108|12.45%
View 2388 X . 8137852 4.92 ACAC A DRAGENIndelHardQUAL 0/1 2 None None None None None None None None None None
View 2388 X rs377018684
dbSNP Clinvar
2947118 5.77 CA C DRAGENIndelHardQUAL 0/1 5 None None None 0.05325 0.26070 None None None None None None ARSH|0.004353843|86.54%
View 2388 22 rs549849192
dbSNP Clinvar
50593692 5.08 G GTT DRAGENIndelHardQUAL 0/1 1 None None None 0.25500 None None None None None None MOV10L1|0.009014493|81.65%
View 2388 22 rs137846
dbSNP Clinvar
50439755 3.04 G GCA DRAGENIndelHardQUAL 0/1 4 None None None 0.60703 0.60700 None None None None None None IL17REL|0.002683079|89.29%
View 2388 22 . 45855048 5.47 CA C DRAGENIndelHardQUAL 1|1 1 None None None None None None None None None None
View 2388 22 . 42128780 3.69 ATT A DRAGENIndelHardQUAL 0/1 2 None None None None None None None None None MEI1|0.060432058|59.74%
View 2388 22 rs111225958,rs759598363
dbSNP Clinvar
37471040 5.33 TAC T DRAGENIndelHardQUAL 0/1 5 None None None None None None None None None TMPRSS6|0.081924937|54.76%
View 2388 22 rs745743786,rs33960159
dbSNP Clinvar
32081436 7.09 CA C DRAGENIndelHardQUAL 1/1 2 None None None 0.40575 0.40580 None None None None None None PRR14L|0.011303133|79.78%
View 2388 22 rs148360145
dbSNP Clinvar
31942829 7.68 A AT DRAGENIndelHardQUAL 0/1 11 None None None 0.15395 0.15400 None None None None None None SFI1|0.009882452|80.95%
View 2388 22 . 31938087 7.42 T TA DRAGENIndelHardQUAL 1/1 2 None None None None None None None None None SFI1|0.009882452|80.95%
View 2388 22 rs11376024,rs397830136
dbSNP Clinvar
26981317 7.53 G GC DRAGENIndelHardQUAL 1/1 1 None None None 1.00000 1.00000 None None None None None None TPST2|0.064867243|58.68%
View 2388 22 . 25322829 6.05 CT C DRAGENIndelHardQUAL 0|1 6 None None None None None None None None None SGSM1|0.079927873|55.2%
View 2388 22 rs5844548,rs397802985
dbSNP Clinvar
23505101 3.66 C CT DRAGENIndelHardQUAL 0/1 14 None None None 0.51657 0.51660 None None None None None None RAB36|0.022182246|73.09%
View 2388 22 rs764073887,rs200741389
dbSNP Clinvar
21639162 5.74 G GA DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None None
View 2388 22 rs80308524
dbSNP Clinvar
20140234 6.19 G GC DRAGENIndelHardQUAL 1/1 1 None None None 0.39217 0.39220 None None None None None None None
View 2388 22 . 20052868 6.99 CT C DRAGENIndelHardQUAL 1/1 2 None None None None None None None None None TANGO2|0.09619586|51.91%
View 2388 22 . 20049434 7.77 G GC... DRAGENIndelHardQUAL 0/1 3 None None None None None None None None None TANGO2|0.09619586|51.91%
View 2388 22 . 16417029 7.47 C CAAAA DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None None
View 2388 22 . 16269814 6.02 C CAAA DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None POTEH|0.00123995|94.24%
View 2388 21 rs373635982
dbSNP Clinvar
47976819 4.09 CT C DRAGENIndelHardQUAL 0/1 19 None None None None None None None None None DIP2A|0.064095824|58.86%
View 2388 21 rs546193405
dbSNP Clinvar
45180062 4.8 G GT DRAGENIndelHardQUAL 0|1 5 None None None None None None None None None PDXK|0.079279748|55.34%
View 2388 21 . 45024279 7.72 T TAC DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None HSF2BP|0.068278432|57.87%
View 2388 21 . 44488755 4.79 GAAA G DRAGENIndelHardQUAL 0/1 5 None None None None None None None None None CBS|0.170288794|40.28%
View 2388 21 rs542015137,rs34547320
dbSNP Clinvar
44481524 6.93 C CT DRAGENIndelHardQUAL 0/1 1 None None None 0.37181 0.37180 None None None None None None CBS|0.170288794|40.28%
View 2388 21 rs35808041,rs397866974
dbSNP Clinvar
38192518 6.3 GC G DRAGENIndelHardQUAL 1/1 1 None None None 0.23343 0.23340 None None None None None None HLCS|0.002146669|90.61%
View 2388 21 rs766753560
dbSNP Clinvar
37734540 5.05 C CT DRAGENIndelHardQUAL 0/1 10 None None None None None None None None None MORC3|0.224798851|33.9%
View 2388 21 rs753351027,rs35902930
dbSNP Clinvar
37661041 3.83 AT A DRAGENIndelHardQUAL 0/1 12 None None None 0.13984 None None None None None None DOPEY2|0.051933664|62.08%
View 2388 21 rs886057008
dbSNP Clinvar
34669258 7.71 CA C DRAGENIndelHardQUAL 1/1 2 None None None None None None None None None IL10RB|0.007758593|82.81%
View 2388 21 rs202236576
dbSNP Clinvar
34127438 6.02 TAA T DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None PAXBP1|0.290693453|28.33%
View 2388 20 . 62630194 5.45 CAAA C DRAGENIndelHardQUAL 0/1 4 None None None None None None None None None ZNF512B|0.041900709|65.14%,PRPF6|0.217306132|34.68%
View 2388 20 rs71333727,rs879102984,rs568119332,rs35264801
dbSNP Clinvar
62571417 6.71 AG A DRAGENIndelHardQUAL 0/1 4 None None None 0.47300 None None None None None None UCKL1|0.078742286|55.5%
View 2388 20 rs374712050
dbSNP Clinvar
61883814 7.7 CA C DRAGENIndelHardQUAL 0|1 3 None None None None None None None None None NKAIN4|0.01137568|79.72%
View 2388 20 rs370459763
dbSNP Clinvar
59906625 7.16 G GC DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None CDH4|0.197684425|36.97%
View 2388 20 rs5842345,rs397864618
dbSNP Clinvar
59878517 5.45 AT A DRAGENIndelHardQUAL 1/1 1 None None None 0.75719 0.75720 None None None None None None CDH4|0.197684425|36.97%
View 2388 20 rs60239178
dbSNP Clinvar
59777351 7.24 CT C DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None None
View 2388 20 . 59217495 6.3 GC G DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None None
View 2388 20 rs568677007,rs10667429,rs386394093,rs397950080
dbSNP Clinvar
55257698 5.2 C CTT DRAGENIndelHardQUAL 0/1 1 None None None 0.19509 0.26980 None None None None None None None
View 2388 20 rs200583084
dbSNP Clinvar
54573108 7.22 GA G DRAGENIndelHardQUAL 0/1 16 None None None 0.03295 0.03295 None None None None None None CBLN4|0.435802409|18.9%
View 2388 20 rs749773841
dbSNP Clinvar
44756943 3.89 CT C DRAGENIndelHardQUAL 0/1 6 None None None None None None None None None CD40|0.170616813|40.22%
View 2388 20 . 44638969 6.59 A AA... DRAGENIndelHardQUAL 0|1 3 None None None None None None None None None MMP9|0.945544929|2.36%
View 2388 20 rs138893029,rs879006643,rs397978502
dbSNP Clinvar
44429633 4.79 C CA DRAGENIndelHardQUAL 0/1 9 None None None None None None None None None DNTTIP1|0.250150902|31.51%
View 2388 20 . 44269075 7.29 CTT C DRAGENIndelHardQUAL 0/1 2 None None None None None None None None None None
View 2388 20 rs748623275,rs34867680
dbSNP Clinvar
37182420 6.79 C CAA DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None RALGAPB|0.587612363|12.23%
View 2388 20 rs3216064
dbSNP Clinvar
37075807 4.98 A AG DRAGENIndelHardQUAL 1/1 1 None None None 0.75340 0.75340 None None None None None None None
View 2388 20 . 36961146 7.16 G GC DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None BPI|0.001345673|93.63%
View 2388 20 rs11313352,rs397811271
dbSNP Clinvar
36507005 5.54 AG A DRAGENIndelHardQUAL 1/1 1 None None None 0.37560 0.37560 None None None None None None None
View 2388 20 . 36147826 6.48 GA G DRAGENIndelHardQUAL 1/1 2 None None None None None None None None None BLCAP|0.555242195|13.5%
View 2388 20 rs11383942,rs397708167
dbSNP Clinvar
33573390 3.12 A AC DRAGENIndelHardQUAL 0/1 2 None None None 0.79473 0.79470 None None None None None None MYH7B|0.048502775|63.11%
View 2388 20 rs779552618,rs10598635
dbSNP Clinvar
33098248 5.51 ATT A DRAGENIndelHardQUAL 0/1 1 None None None 0.44209 0.44210 None None None None None None ITCH|0.752501913|7.04%
View 2388 20 . 30142484 6.89 CAAA C DRAGENIndelHardQUAL 0/1 18 None None None None None None None None None HM13|0.531748433|14.51%
View 2388 20 rs11474862,rs796758286
dbSNP Clinvar
24892519 7.21 GA G DRAGENIndelHardQUAL 1/1 1 None None None 0.29074 0.29070 None None None None None None None
View 2388 20 . 14631003 7.15 TA T DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None MACROD2|0.978751843|1.49%
View 2388 19 rs5828743,rs397807153,rs397760419
dbSNP Clinvar
58588288 7.18 T TC DRAGENIndelHardQUAL 1/1 1 None None None 1.00000 1.00000 None None None None None None ZNF135|0.007781448|82.78%
View 2388 19 rs35600414,rs397962584
dbSNP Clinvar
57253019 7.53 T TA DRAGENIndelHardQUAL 1/1 1 None None None 0.32528 0.32530 None None None None None None None
View 2388 19 . 55589300 7.52 CA... C DRAGENIndelHardQUAL 0/1 5 None None None None None None None None None EPS8L1|0.007628645|82.92%
View 2388 19 rs34530481,rs370391876
dbSNP Clinvar
55529274 5.54 T TA DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None GP6|0.001463632|92.98%
View 2388 19 rs111753331,rs529367695
dbSNP Clinvar
53905129 5.07 TA T DRAGENIndelHardQUAL 0/1 5 None None None 0.53040 None None None None None None ZNF765|0.00118323|94.56%
View 2388 19 rs59972849,rs397699547
dbSNP Clinvar
53647353 6.43 A AT DRAGENIndelHardQUAL 1/1 1 None None None 1.00000 1.00000 None None None None None None ZNF347|0.000399197|98.96%
View 2388 19 rs56195585,rs397794432
dbSNP Clinvar
48862794 7.19 T TC DRAGENIndelHardQUAL 1/1 1 None None None 0.76717 0.76720 None None None None None None TMEM143|0.035329176|67.38%
View 2388 19 . 48862766 6.65 GTT G DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None TMEM143|0.035329176|67.38%
View 2388 19 . 43520479 6.32 AC A DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None PSG11|0.000807625|96.61%
View 2388 19 rs879989976,rs57571436
dbSNP Clinvar
42107413 6.77 GCA G DRAGENIndelHardQUAL 1|1 1 None None None None None None None None None None
View 2388 19 . 41143805 5.58 CA C DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None None
View 2388 19 rs11376199
dbSNP Clinvar
41129079 7.34 C CT DRAGENIndelHardQUAL 0/1 4 None None None 0.45747 0.45750 None None None None None None LTBP4|0.091127701|53.01%
View 2388 19 . 40988146 5.6 AT A DRAGENIndelHardQUAL 1|1 1 None None None None None None None None None SPTBN4|0.129297716|45.97%
View 2388 19 rs34018511,rs397859774
dbSNP Clinvar
35051709 5.46 CA C DRAGENIndelHardQUAL 1/1 1 None None None 0.60623 0.60620 None None None None None None None
View 2388 19 . 29977098 5.03 AT A DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None None
View 2388 19 rs35156216
dbSNP Clinvar
23411256 6.36 C CA DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None ZNF724P|0.00115952|94.65%
View 2388 19 rs370057181,rs201540364
dbSNP Clinvar
23309463 7.65 G GTT DRAGENIndelHardQUAL 0/1 1 None None None 0.00080 0.50260 None None None None None None ZNF730|0.0013142|93.79%
View 2388 19 . 21237448 4.96 GT G DRAGENIndelHardQUAL 1/1 1 None None None None None None None None None ZNF430|0.001266666|94.07%
View 2388 19 . 14734109 5.65 AAT A DRAGENIndelHardQUAL 0/1 4 None None None None None None None None None ADGRE3|0.00236842|89.99%
View 2388 19 rs35913659,rs386388587,rs397716468
dbSNP Clinvar
13457881 4.95 G GTT DRAGENIndelHardQUAL 0/1 1 None None None 0.83746 0.83750 None None None None None None CACNA1A|0.210424701|35.52%
View 2388 19 rs78203245
dbSNP Clinvar
13427097 6.89 C CA DRAGENIndelHardQUAL 0/1 2 None None None 0.35403 0.35400 None None None None None None CACNA1A|0.210424701|35.52%
View 2388 19 rs57015096
dbSNP Clinvar
11664397 4.56 TAC T DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None ELOF1|0.116838406|47.97%
View 2388 19 . 7855958 6.27 T TTGTG DRAGENIndelHardQUAL 0/1 4 None None None None None None None None None None
View 2388 19 . 6307629 5.45 T TAA DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None ACER1|0.011802088|79.38%
View 2388 19 rs750944336,rs763912561,rs56182452
dbSNP Clinvar
4642494 5.85 CAA C DRAGENIndelHardQUAL 0/1 1 None None None None None None None None None TNFAIP8L1|0.026032647|71.3%,MYDGF|0.015950442|76.5%
View 2388 19 rs138569803,rs377653336
dbSNP Clinvar
4550386 7.76 T TTTTG DRAGENIndelHardQUAL 0/1 3 None None None 0.22883 0.22880 None None None None None None SEMA6B|0.017331971|75.64%
View 2388 19 . 2981345 5.71 CA C,... DRAGENIndelHardQUAL 1/2 3 None None None None None None None None None TLE6|0.001439035|93.1%
View 2388 19 . 2979962 7.19 CAAA C DRAGENIndelHardQUAL 0/1 3 None None None None None None None None None TLE6|0.001439035|93.1%