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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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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

AGRN, ISG15,
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
ISG15 Immunodeficiency 38, 616126 (3)

Genes at Clinical Genomics Database

AGRN, ISG15,
AGRN Myasthenic syndrome, congenital 8
ISG15 Immunodeficiency 38, with basal ganglia calcification

Genes at HGMD

Summary

Number of Variants: 118
Number of Genes: 10

Export to: CSV

AGRN

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 example_snp 1 rs4275402
dbSNP Clinvar
990280 1570.0 C T PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.42085 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs9442391
dbSNP Clinvar
984302 2068.0 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.54573 0.54570 0.45863 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2465128
dbSNP Clinvar
981931 6263.01 A G PASS 1/1 191 SYNONYMOUS_CODING LOW None 0.79772 0.79770 0.21978 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs10267
dbSNP Clinvar
982994 6819.01 T C PASS 1/1 206 SYNONYMOUS_CODING LOW None 0.83586 0.83590 0.20883 None None None None None None AGRN|0.026450221|71.13%

C1orf159

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 example_snp 1 rs4074137
dbSNP Clinvar
1026707 646.51 C A StrandBias 1/1 20 None None None 0.62700 0.62700 None None None None None None C1orf159|0.00374564|87.37%

C1orf170

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 example_snp 1 rs13302979
dbSNP Clinvar
914333 997.0 C G PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.55631 0.55630 0.46 0.00 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs7417106
dbSNP Clinvar
911595 899.0 A G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.71026 0.71030 0.06 0.10 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs13303368
dbSNP Clinvar
914852 409.0 G C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.51258 0.51260 1.00 0.00 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs13302983
dbSNP Clinvar
914876 535.0 T C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.96685 0.96690 0.22 0.00 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs13303033
dbSNP Clinvar
914940 498.0 T C PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.50959 0.50960 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs13303355
dbSNP Clinvar
915227 9372.01 A G PASS 1/1 243 SYNONYMOUS_CODING LOW None 0.91813 0.91810 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs6660139
dbSNP Clinvar
916549 5752.01 A G PASS 1/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.75859 0.75860 0.09 0.00 None None None None None None PERM1|0.000651256|97.53%

HES4

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 example_snp 1 rs2298214
dbSNP Clinvar
935222 510.0 C A PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.49381 0.49380 0.43670 0.72 0.00 None None None None None None HES4|0.004519204|86.38%

ISG15

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 example_snp 1 rs8997
dbSNP Clinvar
949654 2439.0 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.82568 0.82570 0.17964 None None None None None None ISG15|0.003699962|87.43%

KLHL17

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 example_snp 1 rs4970441
dbSNP Clinvar
897325 5587.01 G C PASS 1/1 174 SYNONYMOUS_CODING LOW None 0.85923 0.85920 0.14111 None None None None None None KLHL17|0.108280231|49.52%

NOC2L

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 example_snp 1 rs3828047
dbSNP Clinvar
887801 7647.01 A G PASS 1/1 204 SYNONYMOUS_CODING LOW None 0.92232 0.92230 0.07258 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs3748596
dbSNP Clinvar
888639 4391.01 T C PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.92272 0.92270 0.07274 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs3748597
dbSNP Clinvar
888659 3225.28 T C PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.92272 0.92270 0.07267 1.00 0.00 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs2272757
dbSNP Clinvar
881627 7413.01 G A PASS 1/1 230 SYNONYMOUS_CODING LOW None 0.44189 0.44190 0.47478 None None None None None None NOC2L|0.129676597|45.92%

OR4F5

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 example_snp 1 rs2691305
dbSNP Clinvar
69511 4732.01 A G VQSRTrancheSNP99.90to100.00 1/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.24023 0.82 0.00 None None None None None None OR4F5|0.005218997|85.55%

PLEKHN1

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 example_snp 1 rs3829740
dbSNP Clinvar
909238 2337.0 G C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.77656 0.77660 0.34987 0.31 0.00 None None None None None None PLEKHN1|0.007235319|83.27%

SAMD11

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 example_snp 1 rs6672356
dbSNP Clinvar
877831 646.0 T C PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None SAMD11|0.017850254|75.37%
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 example_snp 1 rs2905056
dbSNP Clinvar
787262 561.0 C G PASS 1/1 15 None None None 0.75280 0.75280 None None None None None None None
View example_snp 1 rs2905055
dbSNP Clinvar
787399 1917.0 G T PASS 1/1 60 None None None 0.64637 0.64640 None None None None None None None
View example_snp 1 rs2980306
dbSNP Clinvar
788713 78.51 T C LowCoverage;StrandBias;VQSRTrancheSNP99.90to100.00 1/1 4 None None None 0.62680 0.62680 None None None None None None None
View example_snp 1 . 788795 41.97 T G LowCoverage;LowQual;StrandBias;VQSRTrancheSNP99.90to100.00 1/1 4 None None None None None None None None None None
View example_snp 1 rs13303019
dbSNP Clinvar
854777 2126.0 A G PASS 1/1 71 None None None 0.66194 0.66190 None None None None None None None
View example_snp 1 rs28521172
dbSNP Clinvar
861008 217.13 G C LowCoverage 1/1 7 None None None 0.68730 0.68730 None None None None None None SAMD11|0.017850254|75.37%
View example_snp 1 rs9988021
dbSNP Clinvar
866319 2125.0 G A PASS 1/1 57 None None None 0.95347 0.95350 None None None None None None SAMD11|0.017850254|75.37%
View example_snp 1 rs4072383
dbSNP Clinvar
871334 1603.0 G T PASS 1/1 43 None None None 0.00679 0.00679 None None None None None None SAMD11|0.017850254|75.37%
View example_snp 1 rs6605066
dbSNP Clinvar
877715 2009.0 C G PASS 1/1 58 None None None 0.88798 0.88800 None None None None None None SAMD11|0.017850254|75.37%
View example_snp 1 rs6605067
dbSNP Clinvar
879676 1197.0 G A PASS 1/1 36 None None None 0.88598 0.88600 None None None None None None SAMD11|0.017850254|75.37%,NOC2L|0.129676597|45.92%
View example_snp 1 rs2839
dbSNP Clinvar
879687 1069.0 T C PASS 1/1 32 None None None 0.92113 0.92110 None None None None None None SAMD11|0.017850254|75.37%,NOC2L|0.129676597|45.92%
View example_snp 1 rs3748592
dbSNP Clinvar
880238 1255.0 A G PASS 1/1 32 None None None 0.92093 0.92090 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs4970378
dbSNP Clinvar
883625 3033.0 A G PASS 1/1 86 None None None 1.00000 1.00000 0.00015 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs10465242
dbSNP Clinvar
886788 133.51 G A LowCoverage 1/1 4 None None None 0.70907 0.70910 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs10465241
dbSNP Clinvar
886817 41.76 C T LowCoverage;LowQual 1/1 2 None None None 0.12919 0.70970 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs3748595
dbSNP Clinvar
887560 3518.01 A C PASS 1/1 99 None None None 0.89976 0.89980 0.10172 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs147467971
dbSNP Clinvar
899938 827.0 G C PASS 1/1 23 None None None 0.83207 0.83210 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs13303056
dbSNP Clinvar
889158 5289.01 G C PASS 1/1 148 None None None 0.90435 0.90440 0.10377 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs13302945
dbSNP Clinvar
889159 5253.01 A C PASS 1/1 148 None None None 0.90435 0.90440 0.10462 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs13303206
dbSNP Clinvar
889638 792.0 G C PASS 1/1 21 None None None 0.90156 0.90160 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs13303227
dbSNP Clinvar
892745 515.0 G A PASS 1/1 16 None None None 0.92073 0.92070 None None None None None None NOC2L|0.129676597|45.92%
View example_snp 1 rs13303229
dbSNP Clinvar
897564 594.0 T C PASS 1/1 16 None None None 0.89996 0.90000 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs6605071
dbSNP Clinvar
898323 1780.0 T C StrandBias 1/1 43 None None None 0.92692 0.92690 0.06406 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs6677386
dbSNP Clinvar
899928 1279.0 G C PASS 1/1 36 None None None 0.82887 0.82890 0.12639 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs143296006
dbSNP Clinvar
899937 756.0 G T PASS 1/1 23 None None None 0.83207 0.83210 0.13355 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs6669071
dbSNP Clinvar
899989 166.26 A C LowCoverage;StrandBias 1/1 5 None None None 0.83846 0.83850 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs4970435
dbSNP Clinvar
900285 790.0 C T StrandBias 1/1 22 None None None 0.79792 0.79790 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs4970434
dbSNP Clinvar
900286 857.0 A G StrandBias 1/1 22 None None None 0.92951 0.92950 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs3935066
dbSNP Clinvar
900730 123.51 G A LowCoverage 1/1 4 None None None 0.64736 0.64740 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs9697711
dbSNP Clinvar
900972 3714.01 T G PASS 1/1 121 None None None 0.93011 0.93010 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs13303351
dbSNP Clinvar
901023 3273.01 T C PASS 1/1 110 None None None 0.88658 0.88660 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs3892467
dbSNP Clinvar
909073 3876.01 C T PASS 1/1 98 None None None 0.41793 0.41790 None None None None None None PLEKHN1|0.007235319|83.27%
View example_snp 1 rs2340594
dbSNP Clinvar
909555 209.13 A G LowCoverage 1/1 6 None None None 0.89697 0.89700 None None None None None None PLEKHN1|0.007235319|83.27%
View example_snp 1 rs2340593
dbSNP Clinvar
909768 7424.01 A G VQSRTrancheSNP99.00to99.90 1/1 222 None None None 0.99960 0.99960 0.00015 None None None None None None PLEKHN1|0.007235319|83.27%
View example_snp 1 rs6685581
dbSNP Clinvar
910438 5427.01 A G PASS 1/1 163 None None None 0.93051 0.93050 None None None None None None PLEKHN1|0.007235319|83.27%
View example_snp 1 rs4970429
dbSNP Clinvar
910903 3411.01 T C PASS 1/1 100 None None None 0.91474 0.91470 None None None None None None PLEKHN1|0.007235319|83.27%,PERM1|0.000651256|97.53%
View example_snp 1 rs7367995
dbSNP Clinvar
912049 406.0 T C PASS 1/1 13 None None None 0.51857 0.51860 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs2340595
dbSNP Clinvar
914192 55.76 G C LowCoverage 1/1 3 None None None 0.93550 0.93550 None None None None None None PERM1|0.000651256|97.53%
View example_snp 1 rs3121571
dbSNP Clinvar
935492 522.0 G T PASS 1/1 19 None None None 0.67712 0.67710 None None None None None None HES4|0.004519204|86.38%
View example_snp 1 rs3128113
dbSNP Clinvar
935459 140.51 A G LowCoverage 1/1 5 None None None 0.67712 0.67710 None None None None None None HES4|0.004519204|86.38%
View example_snp 1 rs2799067
dbSNP Clinvar
985449 497.0 G A PASS 1/1 14 None None None 0.52556 0.52560 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2341365
dbSNP Clinvar
948692 639.0 G A StrandBias 1/1 18 None None None 0.81570 0.81570 None None None None None None None
View example_snp 1 rs4615788
dbSNP Clinvar
948870 3819.01 C G PASS 1/1 125 None None None 0.90296 0.90300 0.11016 None None None None None None ISG15|0.003699962|87.43%
View example_snp 1 rs15842
dbSNP Clinvar
948921 3818.01 T C PASS 1/1 119 None None None 0.90316 0.90320 0.11421 None None None None None None ISG15|0.003699962|87.43%
View example_snp 1 rs2465124
dbSNP Clinvar
949235 437.0 G A PASS 1/1 13 None None None 0.89976 0.89980 None None None None None None ISG15|0.003699962|87.43%
View example_snp 1 rs2799070
dbSNP Clinvar
949925 1455.0 C T StrandBias 1/1 37 None None None 0.87280 0.87280 None None None None None None None
View example_snp 1 rs3121552
dbSNP Clinvar
977203 224.13 G C LowCoverage 1/1 7 None None None 0.89677 0.89680 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2799066
dbSNP Clinvar
977330 2376.0 T C PASS 1/1 65 None None None 0.88518 0.88520 0.14741 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2710876
dbSNP Clinvar
977570 1176.0 G A PASS 1/1 30 None None None 0.79413 0.79410 0.22589 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3128097
dbSNP Clinvar
980460 254.06 G A LowCoverage 1/1 8 None None None 0.91194 0.91190 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3128098
dbSNP Clinvar
981087 3011.0 A G PASS 1/1 100 None None None 0.86941 0.86940 0.16792 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3128099
dbSNP Clinvar
982444 1296.0 A G PASS 1/1 34 None None None 0.82189 0.82190 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3128100
dbSNP Clinvar
982462 1042.0 T C PASS 1/1 31 None None None 0.98083 0.98080 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3128101
dbSNP Clinvar
982513 1056.0 T C PASS 1/1 29 None None None 0.92871 0.92870 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2710887
dbSNP Clinvar
986443 1643.0 C T PASS 1/1 52 None None None 0.78854 0.78850 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3128102
dbSNP Clinvar
982941 4418.01 T C PASS 1/1 121 None None None 0.79992 0.79990 0.23343 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2275813
dbSNP Clinvar
985266 5258.01 C T PASS 1/1 177 None None None 0.49521 0.49520 0.40222 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2275812
dbSNP Clinvar
985446 497.0 G T PASS 1/1 14 None None None 0.33546 0.33550 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs9803031
dbSNP Clinvar
987200 3978.01 C T PASS 1/1 126 None None None 0.78874 0.78870 0.24308 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2710872
dbSNP Clinvar
990517 2760.0 C T PASS 1/1 79 None None None 0.91793 0.91790 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2799072
dbSNP Clinvar
990773 1532.0 C T PASS 1/1 46 None None None 0.84605 0.84600 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs2799073
dbSNP Clinvar
990806 2427.0 G A PASS 1/1 75 None None None 0.84625 0.84620 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs8014
dbSNP Clinvar
990984 2224.0 G A PASS 1/1 56 None None None 0.92232 0.92230 None None None None None None AGRN|0.026450221|71.13%
View example_snp 1 rs3766193
dbSNP Clinvar
1017170 843.0 C G StrandBias 1/1 21 None None None 0.57548 0.57550 None None None None None None None
View example_snp 1 rs3766192
dbSNP Clinvar
1017197 1175.0 C T PASS 1/1 34 None None None 0.51118 0.51120 None None None None None None None
View example_snp 1 rs1133647
dbSNP Clinvar
1017341 2836.0 G T PASS 1/1 86 None None None 0.80911 0.80910 None None None None None None C1orf159|0.00374564|87.37%
View example_snp 1 rs9442395
dbSNP Clinvar
1018144 3044.0 T C PASS 1/1 87 None None None 0.53774 0.53770 None None None None None None C1orf159|0.00374564|87.37%
View example_snp 1 rs9442371
dbSNP Clinvar
1018562 122.51 C T LowCoverage 1/1 4 None None None 0.53015 0.53020 None None None None None None C1orf159|0.00374564|87.37%
View example_snp 1 rs3737728
dbSNP Clinvar
1021415 1186.0 A G PASS 1/1 34 None None None 0.81270 0.81270 0.26000 None None None None None None C1orf159|0.00374564|87.37%
View example_snp 1 rs4562563
dbSNP Clinvar
1026801 2447.0 T A PASS 1/1 67 None None None 0.62660 0.62660 0.44449 None None None None None None C1orf159|0.00374564|87.37%
View example_snp 1 rs2477781
dbSNP Clinvar
1229680 725.0 G T PASS 1/1 20 None None None None None None None None None ACAP3|0.021694685|73.34%
View example_snp 1 rs2296475
dbSNP Clinvar
1237604 139.51 T C LowCoverage;StrandBias 1/1 4 None None None None None None None None None ACAP3|0.021694685|73.34%
View example_snp 1 rs6702268
dbSNP Clinvar
1159517 761.0 T C PASS 1/1 22 None None None 0.97404 0.97400 None None None None None None SDF4|0.055745044|60.99%
View example_snp 1 rs370884870
dbSNP Clinvar
17746 335.0 A G HARD_TO_VALIDATE;StrandBias;VQSRTrancheSNP99.90to100.00 1/1 140 None None None None None None None None None None
View example_snp 1 rs6659787
dbSNP Clinvar
1196863 3395.01 T C PASS 1/1 102 None None None 1.00000 1.00000 None None None None None None UBE2J2|0.134409994|45.21%
View example_snp 1 rs76619733
dbSNP Clinvar
788945 144.26 G C HARD_TO_VALIDATE;VQSRTrancheSNP99.90to100.00 1/1 20 None None None None None None None None None None
View example_snp 1 rs71509448
dbSNP Clinvar
899942 796.0 G A PASS 1/1 22 None None None 0.80252 0.80250 0.12615 None None None None None None KLHL17|0.108280231|49.52%
View example_snp 1 rs3131939
dbSNP Clinvar
789256 8007.01 T C VQSRTrancheSNP99.90to100.00 1/1 250 None None None 0.99481 0.99480 None None None None None None None