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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 54

+ Genes associated with diseases 11

Genes at Omim

ACOX1, GEMIN4, HOXB1, ITGA3, KIF1C, KLHL10, NOG, RNF213, TLK2, TRIM37, XYLT2,
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
NOG Brachydactyly, type B2, 611377 (3)
Multiple synostoses syndrome 1, 186500 (3)
Stapes ankylosis with broad thumbs and toes, 184460 (3)
Symphalangism, proximal, 1A, 185800 (3)
Tarsal-carpal coalition syndrome, 186570 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TRIM37 Mulibrey nanism, 253250 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)

Genes at Clinical Genomics Database

ACOX1, HOXB1, ITGA3, KIF1C, KLHL10, NOG, RNF213, TRIM37,
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
HOXB1 Facial paresis, hereditary congenital, 3
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
NOG Brachydactyly, type B2
Tarsal-carpal coalition syndrome
Multiple synostosis syndrome 1
Symphalangism, proximal
Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
RNF213 Moyamoya disease 2
TRIM37 Mulibrey nanism

Genes at HGMD

Summary

Number of Variants: 288
Number of Genes: 54

Export to: CSV
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 ex_013_mod 17 . 55055406 86.58 A C PASS 0/1 2 None None None None None None None None None None
View ex_013_mod 17 . 58332433 93.28 G T PASS 0/1 22 None None None None None None None None None USP32|0.442114666|18.55%
View ex_013_mod 17 rs192601623
dbSNP Clinvar 		35797689 130.11 T C PASS 0/1 12 None None None 0.00060 0.00060 None None None None None None TADA2A|0.807713121|5.61%
View ex_013_mod 17 rs571201301
dbSNP Clinvar 		80130829 155.55 C T PASS 0/1 14 None None None 0.00040 0.00040 None None None None None None CCDC57|0.000772577|96.85%
View ex_013_mod 17 . 74737017 158.31 C T PASS 0/1 33 None None None None None None None None None MFSD11|0.169106191|40.43%
View ex_013_mod 17 . 64222009 177.64 G A PASS 0/1 13 None None None None None None None None None APOH|0.076233012|56.02%
View ex_013_mod 17 rs973937335
dbSNP Clinvar 		36214703 185.15 C T PASS 0/1 12 None None None None None None None None None None
View ex_013_mod 17 rs111575238
dbSNP Clinvar 		9850458 204.4 G A PASS 0/1 13 None None None None None None None None None GAS7|0.509169176|15.42%
View ex_013_mod 17 rs539513033
dbSNP Clinvar 		64960887 209.86 G A PASS 1/1 4 None None None 0.00719 0.00719 None None None None None None None
View ex_013_mod 17 rs1026090045
dbSNP Clinvar 		57886333 212.62 T C PASS 0/1 10 None None None None None None None None None VMP1|0.727429724|7.75%
View ex_013_mod 17 . 17696186 238.95 T C PASS 0/1 3 None None None None None None None None None RAI1|0.119478135|47.54%
View ex_013_mod 17 rs200213784
dbSNP Clinvar 		73647380 244.51 T C PASS 0/1 32 None None None 0.00040 0.00040 0.00062 None None None None None None RECQL5|0.131841612|45.64%

KRTAP1-5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 . 39183255 276.5 T G PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None KRTAP1-5|0.023419758|72.45%
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 ex_013_mod 17 rs533889409
dbSNP Clinvar 		40497376 371.87 T C PASS 0/1 10 None None None 0.00080 0.00080 None None None None None None STAT3|0.999568472|0.31%
View ex_013_mod 17 . 60005446 373.56 T C PASS 0/1 25 None None None None None None None None None None

IGF2BP1
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 ex_013_mod 17 . 47121386 400.51 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.12 None None None None None None IGF2BP1|0.801461044|5.79%

NFE2L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 . 46133754 411.51 G T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.94 None None None None None None NFE2L1|0.372718275|22.55%
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 ex_013_mod 17 rs782086894
dbSNP Clinvar 		40123808 417.08 C T PASS 0/1 36 None None None None None None None None None CNP|0.145097162|43.71%
View ex_013_mod 17 rs11383892
dbSNP Clinvar 		40128490 474.44 C T PASS 0/1 5 None None None None None None None None None CNP|0.145097162|43.71%,DNAJC7|0.557867251|13.43%
View ex_013_mod 17 rs182260944
dbSNP Clinvar 		41158876 523.51 G C PASS 0/1 49 None None None 0.00040 0.00040 None None None None None None IFI35|0.010107368|80.77%

CCDC57
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 ex_013_mod 17 . 80159430 531.51 G C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CCDC57|0.000772577|96.85%
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 ex_013_mod 17 rs11872014
dbSNP Clinvar 		44039658 532.41 G A PASS 0/1 6 None None None 0.00260 0.00260 0.00300 None None None None None None MAPT|0.935754847|2.65%
View ex_013_mod 17 rs538038124
dbSNP Clinvar 		36666168 546.36 T G PASS 0/1 7 None None None 0.00020 0.00020 None None None None None None ARHGAP23|0.124657713|46.71%
View ex_013_mod 17 rs200959334
dbSNP Clinvar 		27417792 567.51 G A PASS 0/1 53 None None None 0.00020 0.00020 None None None None None None MYO18A|0.508450233|15.46%,TIAF1|0.017985292|75.3%
View ex_013_mod 17 . 37094730 567.58 C T PASS 0/1 23 None None None None None None None None None FBXO47|0.203159321|36.35%

MINK1
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 ex_013_mod 17 rs1037333676
dbSNP Clinvar 		4789895 593.52 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.77 None None None None None None MINK1|0.312766522|26.63%
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 ex_013_mod 17 . 28011526 602.58 C A PASS 0/1 35 None None None None None None None None None SSH2|0.318727324|26.2%

TRIM37
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 ex_013_mod 17 rs143642427
dbSNP Clinvar 		57094676 629.51 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00031 0.15 0.00 None None None None None None TRIM37|0.928220593|2.79%
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 ex_013_mod 17 rs79525008
dbSNP Clinvar 		6909443 721.56 G A PASS 1/1 3 None None None 0.00599 0.00599 None None None None None None ALOX12|0.072773622|56.83%
View ex_013_mod 17 rs782322289
dbSNP Clinvar 		39921125 729.51 C T PASS 0/1 61 None None None None None None None None None JUP|0.822839641|5.24%
View ex_013_mod 17 rs549912317
dbSNP Clinvar 		78180974 736.08 G A PASS 0/1 54 None None None 0.00040 0.00040 None None None None None None CARD14|0.016890899|75.93%,SGSH|0.030674415|69.12%
View ex_013_mod 17 rs114861649
dbSNP Clinvar 		79612751 755.12 T C PASS 0/1 6 None None None 0.00599 0.00599 None None None None None None NPLOC4|0.127760741|46.21%,TSPAN10|0.001817218|91.48%

MYO18A
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 ex_013_mod 17 rs377454229
dbSNP Clinvar 		27419449 764.52 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.07 0.98 None None None None None None MYO18A|0.508450233|15.46%
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 ex_013_mod 17 rs185197646
dbSNP Clinvar 		6908924 770.72 C T PASS 0/1 16 None None None 0.00599 0.00599 None None None None None None ALOX12|0.072773622|56.83%
View ex_013_mod 17 rs189979923
dbSNP Clinvar 		1386088 778.41 A G PASS 0/1 4 None None None None None None None None None MYO1C|0.50378708|15.67%
View ex_013_mod 17 . 58332430 779.7 A T PASS 0/1 21 None None None None None None None None None USP32|0.442114666|18.55%
View ex_013_mod 17 rs541264959
dbSNP Clinvar 		79674347 814.19 G A PASS 0/1 9 None None None 0.00300 0.00300 None None None None None None MRPL12|0.111649534|48.9%,SLC25A10|0.08827526|53.61%
View ex_013_mod 17 rs117912323
dbSNP Clinvar 		33465048 850.48 T C PASS 0/1 13 None None None 0.00240 0.00240 None None None None None None NLE1|0.753020846|7.02%
View ex_013_mod 17 rs143533175
dbSNP Clinvar 		33445268 867.32 C T PASS 0/1 10 None None None 0.00160 0.00160 None None None None None None RAD51D|0.062622742|59.17%

XAF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs61731569
dbSNP Clinvar 		6663729 870.32 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.00669 0.04 0.02 None None None None None None XAF1|0.002684279|89.28%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs184421726
dbSNP Clinvar 		18030693 888.46 G C PASS 0/1 15 None None None 0.00080 0.00080 None None None None None None MYO15A|0.178183039|39.27%
View ex_013_mod 17 rs572399304
dbSNP Clinvar 		60788489 898.48 C T PASS 0/1 14 None None None 0.00060 0.00060 None None None None None None MARCH10|0.014073376|77.83%

SDF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs775680467
dbSNP Clinvar 		26982422 923.51 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None SDF2|0.423032003|19.44%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs376885667
dbSNP Clinvar 		80382422 944.51 G A PASS 0/1 70 None None None 0.00025 None None None None None None HEXDC|0.014053393|77.83%

FAM187A
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 ex_013_mod 17 rs779309918
dbSNP Clinvar 		42981763 997.51 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None CCDC103|0.035653539|67.25%,FAM187A|0.067468693|58.02%
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 ex_013_mod 17 rs554811342
dbSNP Clinvar 		15909650 1050.1 G A PASS 0/1 17 None None None 0.00040 0.00040 None None None None None None TTC19|0.100133531|51.14%

XYLT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs149423854
dbSNP Clinvar 		48434513 1092.52 C T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00092 0.14 0.05 None None None None None None XYLT2|0.099224608|51.33%

NOG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs747237879
dbSNP Clinvar 		54671655 1103.51 C A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.00 None None None None None None NOG|0.994685254|0.85%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs145806567
dbSNP Clinvar 		62657883 1148.77 C G PASS 0/1 5 None None None 0.00379 0.00379 None None None None None None SMURF2|0.806521606|5.64%

NEURL4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 . 7224720 1161.51 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.09 None None None None None None NEURL4|0.15446924|42.36%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs185833869
dbSNP Clinvar 		6920902 1165.43 C G PASS 0/1 24 None None None 0.00160 0.00160 None None None None None None None
View ex_013_mod 17 rs564945757
dbSNP Clinvar 		61906685 1186.48 T C PASS 0/1 9 None None None 0.00100 0.00100 None None None None None None FTSJ3|0.293942653|28.12%,PSMC5|0.531547786|14.53%

TLK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs765006741
dbSNP Clinvar 		60599596 1194.51 A G PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None TLK2|0.587006511|12.26%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs536191315
dbSNP Clinvar 		49156892 1223.2 G A PASS 0/1 26 None None None 0.00040 0.00040 None None None None None None SPAG9|0.484154198|16.54%
View ex_013_mod 17 rs117092341
dbSNP Clinvar 		63747055 1230.53 C G PASS 0/1 17 None None None 0.00599 0.00599 None None None None None None CEP112|0.36305341|23.21%
View ex_013_mod 17 rs143409738
dbSNP Clinvar 		45422685 1241.02 G A PASS 0/1 8 None None None 0.00260 0.00260 None None None None None None EFCAB13|0.004226977|86.7%
View ex_013_mod 17 rs148002056
dbSNP Clinvar 		15952503 1246.59 T G PASS 0/1 8 None None None 0.00359 0.00359 None None None None None None NCOR1|0.942283614|2.42%
View ex_013_mod 17 rs201569488
dbSNP Clinvar 		7132401 1338.51 G T PASS 0/1 124 None None None 0.00015 None None None None None None DVL2|0.380173803|22.04%
View ex_013_mod 17 rs34765353
dbSNP Clinvar 		79080185 1340.06 A G PASS 0/1 8 None None None 0.00599 0.00599 None None None None None None BAIAP2|0.184038679|38.48%
View ex_013_mod 17 rs149891095
dbSNP Clinvar 		80194168 1365.35 G A PASS 0/1 27 None None None 0.00300 0.00300 None None None None None None SLC16A3|0.065593868|58.46%
View ex_013_mod 17 . 1248606 1414.68 C A PASS 0/1 15 None None None None None None None None None YWHAE|0.966733106|1.8%

C17orf70
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs189173983
dbSNP Clinvar 		79519275 1415.52 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.00350 0.01 1.00 None None None None None None C17orf70|0.008276506|82.38%

DBF4B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 . 42825811 1467.51 A T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.02 None None None None None None DBF4B|0.013466036|78.23%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs62076315
dbSNP Clinvar 		18353552 1476.07 A G PASS 0/1 19 None None None None None None None None None None

LRRC37B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs142826230
dbSNP Clinvar 		30349693 1505.32 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00339 0.42 0.00 None None None None None None LRRC37B|0.00165758|92.07%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs563292974
dbSNP Clinvar 		78092896 1551.73 G A PASS 0/1 7 None None None 0.00060 0.00060 None None None None None None GAA|0.017886334|75.35%

RNASEK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs191867158
dbSNP Clinvar 		6916821 1586.55 C T PASS 0/1 101 None None None 0.00160 0.00160 0.10 0.33 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ex_013_mod 17 rs560420689
dbSNP Clinvar 		10258622 1608.92 G A PASS 0/1 15 None None None 0.00020 0.00020 None None None None None None MYH13|0.061120248|59.55%
View ex_013_mod 17 rs148190532
dbSNP Clinvar 		16001934 1651.05 T C PASS 0/1 24 None None None 0.00040 0.00040 None None None None None None NCOR1|0.942283614|2.42%
View ex_013_mod 17 rs566597066
dbSNP Clinvar 		41338178 1755.29 C T PASS 0/1 41 None None None 0.00060 0.00060 None None None None None None NBR1|0.238714811|32.54%
View ex_013_mod 17 . 36364895 1781.08 A G PASS 0/1 30 None None None None None None None None None None
View ex_013_mod 17 rs570297127
dbSNP Clinvar 		79895125 1794.54 G C PASS 0/1 17 None None None 0.00020 0.00020 None None None None None None PYCR1|0.14269475|44.04%
View ex_013_mod 17 rs192395811
dbSNP Clinvar 		37985838 1800.66 C A PASS 0/1 47 None None None 0.00060 0.00060 None None None None None None IKZF3|0.378393147|22.16%
View ex_013_mod 17 rs181534704
dbSNP Clinvar 		58234659 1944.45 A G PASS 0/1 10 None None None 0.00479 0.00479 None None None None None None CA4|0.007648087|82.9%
View ex_013_mod 17 rs201767466
dbSNP Clinvar 		47810114 1983.6 A G PASS 0/1 16 None None None 0.00220 0.00220 0.00384 None None None None None None FAM117A|0.217342215|34.68%
View ex_013_mod 17 rs115351582
dbSNP Clinvar 		6676408 2024.4 A G PASS 0/1 53 None None None 0.00539 0.00539 0.00661 None None None None None None XAF1|0.002684279|89.28%
View ex_013_mod 17 . 74066338 2058.58 C A PASS 0/1 35 None None None None None None None None None SRP68|0.201044711|36.63%
View ex_013_mod 17 rs75145720
dbSNP Clinvar 		79517257 2132.52 T C PASS 0/1 91 None None None 0.00539 0.00539 0.00516 None None None None None None C17orf70|0.008276506|82.38%

ABCA10
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 ex_013_mod 17 rs141937290
dbSNP Clinvar 		67152981 2165.85 T C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00154 None None None None None None ABCA10|0.002179826|90.49%
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 ex_013_mod 17 rs373649308
dbSNP Clinvar 		18387000 2172.87 T C PASS 0/1 6 None None None None None None None None None LGALS9C|0.002141508|90.62%
View ex_013_mod 17 rs150723743
dbSNP Clinvar 		686737 2288.71 C A PASS 0/1 7 None None None 0.00879 0.00879 None None None None None None RNMTL1|0.073757286|56.57%
View ex_013_mod 17 rs879123680
dbSNP Clinvar 		74066330 2510.73 C A PASS 0/1 33 None None None None None None None None None SRP68|0.201044711|36.63%
View ex_013_mod 17 rs3208238
dbSNP Clinvar 		79858160 2590.28 G A PASS 0/1 5 None None None 0.00559 0.00559 None None None None None None ANAPC11|0.376358102|22.29%
View ex_013_mod 17 rs144203826
dbSNP Clinvar 		72522283 2594.17 G A PASS 0/1 22 None None None 0.00240 0.00240 None None None None None None CD300LB|0.000325377|99.32%

ABCA9
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 ex_013_mod 17 rs376418483
dbSNP Clinvar 		67016544 2616.29 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.09 0.16 None None None None None None ABCA9|0.017284198|75.69%
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 ex_013_mod 17 . 74737018 2620.38 G T PASS 0/1 37 None None None None None None None None None MFSD11|0.169106191|40.43%
View ex_013_mod 17 rs111567631
dbSNP Clinvar 		54534053 2688.81 G A PASS 0/1 15 None None None 0.00160 0.00160 None None None None None None ANKFN1|0.698610051|8.53%
View ex_013_mod 17 . 56056900 2767.56 T A PASS 0/1 5 None None None None None None None None None VEZF1|0.810234454|5.55%

DVL2
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 ex_013_mod 17 rs148687874
dbSNP Clinvar 		7132758 2840.52 G C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00146 None None None None None None DVL2|0.380173803|22.04%
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 ex_013_mod 17 rs769883891
dbSNP Clinvar 		67411218 2940.29 G T PASS 0/1 80 None None None None None None None None None MAP2K6|0.718815666|7.99%
View ex_013_mod 17 rs113352672
dbSNP Clinvar 		49296550 3001.55 T C PASS 0/1 16 None None None 0.00499 0.00499 None None None None None None MBTD1|0.805699599|5.67%
View ex_013_mod 17 rs72840624
dbSNP Clinvar 		48148519 3012.11 G T PASS 0/1 14 None None None 0.00080 0.00080 None None None None None None ITGA3|0.328975626|25.55%
View ex_013_mod 17 . 53016216 3076.97 C T PASS 0/1 52 None None None None None None None None None TOM1L1|0.118198744|47.71%
View ex_013_mod 17 rs371340510
dbSNP Clinvar 		73661034 3139.51 T A PASS 0/1 18 None None None None None None None None None RECQL5|0.131841612|45.64%
View ex_013_mod 17 rs182947055
dbSNP Clinvar 		18353562 3161.07 G T PASS 0/1 19 None None None 0.00399 0.00399 None None None None None None None

AZI1
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 ex_013_mod 17 rs145189405
dbSNP Clinvar 		79172739 3175.19 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00217 0.12 0.00 None None None None None None CEP131|0.010879041|80.18%
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 ex_013_mod 17 rs192547889
dbSNP Clinvar 		6902220 3240.52 G A PASS 0/1 86 None None None 0.00140 0.00140 0.00052 None None None None None None ALOX12|0.072773622|56.83%

NPB
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 ex_013_mod 17 rs558554720
dbSNP Clinvar 		79860438 3385.7 C A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None NPB|0.001966424|91.08%,PCYT2|0.058928096|60.18%

SREBF1
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 ex_013_mod 17 rs200944690
dbSNP Clinvar 		17717013 3416.99 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.12 None None None None None None SREBF1|0.208630723|35.75%

OR1A1
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 ex_013_mod 17 rs117976322
dbSNP Clinvar 		3119609 3561.52 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00146 0.00 0.09 None None None None None None OR1A1|0.025113143|71.73%