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+ Genes 409

Genes:
ABCD4, AC005477.1, ACIN1, ACOT2, ACOT4, ACTR10, ACYP1, ADAM21, ADCK1, ADCY4, ADSSL1, AE000662.92, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AL133373.1, AL139099.1, ANG, APEX1, APOPT1, AREL1, ARHGEF40, ARID4A, ASB2, ASPG, ATG14, ATG2B, ATP5S, ATXN3, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf105, C14orf132, C14orf144, C14orf159, C14orf166B, C14orf180, C14orf182, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, C14orf93, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP128, CEP170B, CGRRF1, CHD8, CHGA, CHMP4A, CKB, CLMN, CMA1, CMTM5, COCH, COQ6, CPNE6, CTAGE5, CTD-2547L24.3, DAAM1, DACT1, DCAF11, DCAF4, DDHD1, DEGS2, DHRS4L2, DHRS7, DIO2, DLGAP5, DLK1, DNAAF2, DPF3, DYNC1H1, EDDM3A, EDDM3B, EFCAB11, EFS, EIF5, ELMSAN1, EML1, ENTPD5, ERO1L, ESR2, ESRRB, EXD2, EXOC3L4, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO34, FERMT2, FLRT2, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GMPR2, GNG2, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27L1, IFT43, IGHA1, IGHA2, IGHD, IGHD2-2, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-3, IGHV1-45, IGHV1-58, IGHV1-69, IGHV1-8, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-13, IGHV3-16, IGHV3-20, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-7, IGHV3-9, IGHV4-28, IGHV4-31, IGHV4-4, IGHV4-61, IGHV5-51, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, JDP2, KCNH5, KCNK13, KHNYN, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGALS3, LGMN, LRFN5, LRP10, LRRC16B, LRRC9, LTB4R, LTBP2, MAP3K9, MAP4K5, MARK3, MBIP, MDGA2, MIA2, MIS18BP1, MLH3, MMP14, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NPAS3, NPC2, NRDE2, NRXN3, NUDT14, NYNRIN, OR10G3, OR11G2, OR11H6, OR11H7, OR4K1, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4M1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6S1, OSGEP, OTUB2, OXA1L, PAPLN, PAX9, PCK2, PCNX, PCNXL4, PLD4, PLEKHD1, PLEKHG3, PLEKHH1, PNN, POMT2, POTEG, PPP1R13B, PPP1R36, PRIMA1, PRKCH, PRKD1, PSMA6, PSMB11, PSMB5, PSMC1, PSME2, PTGDR, PTGR2, PYGL, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RDH12, REC8, RGS6, RIN3, RNASE11, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RP11-187E13.1, RP11-80A15.1, RPGRIP1, RPS6KL1, RTN1, SALL2, SAMD15, SDR39U1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC22A17, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, STON2, STRN3, SUPT16H, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDRD9, TECPR2, TEP1, TMED8, TMEM121, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM55B, TMEM63C, TMX1, TNFAIP2, TOX4, TPPP2, TRAC, TRAF3, TRAJ13, TRAJ16, TRAJ19, TRAJ32, TRAJ36, TRAJ37, TRAJ57, TRAV1-1, TRAV12-2, TRAV13-1, TRAV14DV4, TRAV20, TRAV23DV6, TRAV35, TRAV36DV7, TRAV6, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-2, TRDJ2, TRIM9, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VASH1, VCPKMT, VRK1, VRTN, VSX2, WARS, WDR20, WDR25, XRCC3, YLPM1, ZBTB42, ZC2HC1C, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF839,

+ Genes associated with diseases 79

Genes at Omim

ABCD4, ADSSL1, AK7, ANG, APOPT1, ATXN3, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, EML1, ESR2, ESRRB, FANCM, FBLN5, FUT8, GALC, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, NPC2, OSGEP, PAX9, PCK2, POMT2, PRKCH, PRKD1, PSMA6, PTGDR, PYGL, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TDRD9, TECPR2, TMEM260, TRAC, TRAF3, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
ANG Amyotrophic lateral sclerosis 9, 611895 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DACT1 ?Townes-Brocks syndrome 2, 617466 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (3)
ESR2 ?Ovarian dysgenesis 8, 618187 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
IGHG2 IgG2 deficiency, selective (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586 Joubert syndrome 23, 616490 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NPC2 Niemann-pick disease, type C2, 607625 (3)
OSGEP Galloway-Mowat syndrome 3, 617729 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1 Congenital heart defects and ectodermal dysplasia, 617364 (3)
PSMA6 {Myocardial infarction, susceptibility to}, 608446 (3)
PTGDR {Asthma, susceptibility to, 1}, 607277 (3)
PYGL Glycogen storage disease VI, 232700 (3)
RDH12 Leber congenital amaurosis 13, 612712 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SALL2 ?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX1 Branchiootic syndrome 3, 608389 (3)
Deafness, autosomal dominant 23, 605192 (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMOC1 Microphthalmia with limb anomalies, 206920 (3)
SOS2 Noonan syndrome 9, 616559 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TCL1B Leukemia/lymphoma, T-cell (2)
TDRD9 ?Spermatogenic failure 30, 618110 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAC Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ANG, APOPT1, ATXN3, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FANCM, FBLN5, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, NPC2, PAX9, POMT2, PYGL, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TECPR2, TRAC, TRAF3, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ANG Amyotrophic lateral sclerosis 9
APOPT1 Mitochondrial complex IV deficiency
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BRF1 Cerebellofaciodental syndrome
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FANCM Fanconi anemia type M
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
GALC Krabbe disease
IFT43 Cranioectodermal dysplasia 3
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586 Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
NPC2 Niemann-pick disease, type C2
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL Glycogen storage disease VI
RDH12 Leber congenital amaurosis 13
Retinitis pigmentosa 53
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SALL2 Ocular coloboma
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX1 Deafness, autosomal dominant 23
Branchiootorenal syndrome 3
Branchiootic syndrome 3
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SMOC1 Microphthalmia with limb anomalies
SOS2 Noonan syndrome 9
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2 Spastic paraplegia 49, autosomal recessive
TRAC T-cell receptor-alpha/beta deficiency
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 3032
Number of Genes: 409

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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 68191109 343.19 GT... GT... PASS 2/2 28 None None None None None None None None None RDH12|0.245292064|32%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 69444517 67.97 TC... TC... PASS 2/2 4 None None None None None None None None None ACTN1|0.514986607|15.15%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 23574095 1477.79 GG... GG... PASS 2/2 82 None None None None None None None None None None

C14orf23
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 29261309 1896.19 AAA AA... PASS 2/2 46 FRAME_SHIFT HIGH None None None None None None None LINC01551|0.030992921|68.96%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 92915625 236.12 TA... TA... PASS 2/2 21 None None None None None None None None None SLC24A4|0.11620336|48.1%

FSCB
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3809430
dbSNP Clinvar 		44975510 2282.77 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.32448 0.32450 0.32823 None None None None None None FSCB|0.000408542|98.9%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 22984431 296.74 TGA TGGA PASS 1/1 9 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs4901176
dbSNP Clinvar 		38222291 653.77 G C PASS 1/1 18 None None None 0.89617 0.89620 None None None None None None TTC6|0.122443829|47.04%

FSCB
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3825632
dbSNP Clinvar 		44974922 5974.77 A T PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.44010 0.44010 0.45850 1.00 0.00 -1.71 None None None None None None FSCB|0.000408542|98.9%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 23002265 1569.73 GCCC GCC PASS 1/1 45 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 23020820 3307.73 GCT GCCT PASS 1/1 60 None None None None None None None None None None

SLC7A7
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8018462
dbSNP Clinvar 		23282110 3013.77 A G PASS 1/1 77 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.58207 0.58210 0.49261 None None None None None None SLC7A7|0.311807291|26.7%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1805059
dbSNP Clinvar 		23282449 4357.77 C T PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.60603 0.60600 0.43757 None None None None None None SLC7A7|0.311807291|26.7%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs55970272
dbSNP Clinvar 		24795237 5184.77 T C PASS 1/1 60 None None None 0.92712 0.92710 0.08765 None None None None None None ADCY4|0.342968344|24.64%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1950502
dbSNP Clinvar 		24801635 2687.77 A C PASS 1/1 70 None None None 0.93710 0.93710 None None None None None None ADCY4|0.342968344|24.64%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8003158
dbSNP Clinvar 		24802263 2012.77 A G PASS 1/1 57 None None None 0.99042 0.99040 None None None None None None ADCY4|0.342968344|24.64%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1950501
dbSNP Clinvar 		24806800 3759.77 G C PASS 1/1 96 None None None 0.00080 0.43110 0.49616 None None None None None None RIPK3|0.001720654|91.79%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10141527
dbSNP Clinvar 		24841517 394.77 A G PASS 1/1 11 None None None 0.84245 0.84250 None None None None None None NFATC4|0.294227779|28.1%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2243891
dbSNP Clinvar 		24846757 6218.77 A G PASS 1/1 155 None None None 0.84864 0.84860 None None None None None None NFATC4|0.294227779|28.1%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3814811
dbSNP Clinvar 		24887462 5135.77 T C PASS 1/1 128 None None None 0.91853 0.91850 None None None None None None NYNRIN|0.02562313|71.47%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10143703
dbSNP Clinvar 		24898355 705.77 C A PASS 1/1 20 None None None 0.62480 0.62480 None None None None None None CBLN3|0.128837847|46.06%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2273632
dbSNP Clinvar 		24898558 3573.77 C T PASS 1/1 100 None None None 0.63878 0.63880 None None None None None None CBLN3|0.128837847|46.06%,KHNYN|0.038013777|66.45%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2273631
dbSNP Clinvar 		24898693 4381.77 C T PASS 1/1 70 None None None 0.63978 0.63980 None None None None None None CBLN3|0.128837847|46.06%,KHNYN|0.038013777|66.45%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2273630
dbSNP Clinvar 		24898696 4277.77 T C PASS 1/1 60 None None None 0.64038 0.64040 None None None None None None CBLN3|0.128837847|46.06%,KHNYN|0.038013777|66.45%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2273629
dbSNP Clinvar 		24898751 1408.77 G A PASS 1/1 37 None None None 0.68490 0.68490 None None None None None None CBLN3|0.128837847|46.06%,KHNYN|0.038013777|66.45%

KHNYN
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3742520
dbSNP Clinvar 		24901249 7608.77 A C PASS 1/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.40515 0.40520 0.40243 0.02 0.01 -0.32 None None None None None None KHNYN|0.038013777|66.45%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7151995
dbSNP Clinvar 		24901276 7384.77 G T PASS 1/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.95947 0.95950 0.04098 0.70 0.00 -0.51 None None None None None None KHNYN|0.038013777|66.45%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2255591
dbSNP Clinvar 		24901844 6480.77 A G PASS 1/1 161 None None None 0.65475 0.65480 0.34469 None None None None None None KHNYN|0.038013777|66.45%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2277488
dbSNP Clinvar 		24905533 4227.77 G A PASS 1/1 109 None None None 0.93351 0.93350 None None None None None None KHNYN|0.038013777|66.45%

SDR39U1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11625819
dbSNP Clinvar 		24910973 2266.77 T G PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.76518 0.76520 0.21356 0.75 0.00 1.32 None None None None None None SDR39U1|0.090184278|53.21%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2277489
dbSNP Clinvar 		24905548 3834.77 G A PASS 1/1 87 None None None 0.73542 0.73540 0.24327 None None None None None None KHNYN|0.038013777|66.45%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3809
dbSNP Clinvar 		24909072 1325.77 T C PASS 1/1 35 None None None 0.76538 0.76540 None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1043839
dbSNP Clinvar 		24909281 3413.77 C T PASS 1/1 108 None None None 0.76518 0.76520 0.20356 None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%

SDR39U1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1043831
dbSNP Clinvar 		24909362 3901.77 T C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.76518 0.76520 0.20481 0.24 0.00 1.45 None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3211056
dbSNP Clinvar 		24909475 6738.77 C G PASS 1/1 208 NON_SYNONYMOUS_CODING MODERATE None 0.76518 0.76520 0.20417 1.00 0.04 0.83 None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2273628
dbSNP Clinvar 		24909731 5693.77 C T PASS 1/1 156 None None None 0.76498 0.76500 0.19352 1.00 0.00 0.41 None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs712487
dbSNP Clinvar 		24910210 4260.77 C A PASS 1/1 109 None None None 0.76498 0.76500 None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 24910317 3502.73 CT CTTT PASS 1/1 74 None None None None None None None None None KHNYN|0.038013777|66.45%,SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11158703
dbSNP Clinvar 		24910876 616.77 G A PASS 1/1 16 None None None 0.76498 0.76500 0.20310 None None None None None None SDR39U1|0.090184278|53.21%

SDR39U1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11625820
dbSNP Clinvar 		24910974 2266.77 T A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.76518 0.76520 0.21609 None None None None None None SDR39U1|0.090184278|53.21%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11158704
dbSNP Clinvar 		24911116 1638.77 C T PASS 1/1 42 None None None 0.76518 0.76520 None None None None None None SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1956903
dbSNP Clinvar 		24911764 2106.77 G A PASS 1/1 56 None None None 0.78594 0.78590 None None None None None None SDR39U1|0.090184278|53.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12897925
dbSNP Clinvar 		24911852 2858.77 C G PASS 1/1 78 None None None 0.76518 0.76520 None None None None None None SDR39U1|0.090184278|53.21%

RP11-80A15.1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs4600392
dbSNP Clinvar 		24970942 1752.77 A G PASS 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.92652 0.92650 None None None None None None None

CMA1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs5249
dbSNP Clinvar 		24975435 4041.77 G T PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.92712 0.92710 0.06951 None None None None None None CMA1|0.012757297|78.68%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1885108
dbSNP Clinvar 		24975509 3406.77 T C PASS 1/1 94 None None None 0.62320 0.62320 0.32339 None None None None None None CMA1|0.012757297|78.68%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12878578
dbSNP Clinvar 		25045589 1279.77 A G PASS 1/1 37 None None None 0.87580 0.87580 None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1957526
dbSNP Clinvar 		25078914 4055.77 A C PASS 1/1 101 None None None 0.90615 0.90620 None None None None None None None

GZMB
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8192917
dbSNP Clinvar 		25102160 3388.77 C T PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.68071 0.68070 0.29348 0.34 0.04 0.86 None None None None None None GZMB|0.006218713|84.38%

SPTLC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2364602
dbSNP Clinvar 		78028803 1916.77 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.83746 0.83750 0.16615 None None None None None None SPTLC2|0.208864076|35.71%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs9322868
dbSNP Clinvar 		31404277 370.77 T C PASS 1/1 10 None None None 0.76617 0.76620 None None None None None None STRN3|0.727742056|7.73%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs6571386
dbSNP Clinvar 		31535603 826.77 G C PASS 1/1 21 None None None 0.94509 0.94510 None None None None None None AP4S1|0.430815172|19.1%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11621299
dbSNP Clinvar 		31549745 1579.77 T G PASS 1/1 42 None None None 0.85064 0.85060 0.10895 None None None None None None AP4S1|0.430815172|19.1%

ATP5S
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12433794
dbSNP Clinvar 		50786004 2188.77 A G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.62580 0.62580 0.02 0.00 0.24 None None None None None None ATP5S|0.070283776|57.43%

HECTD1
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1315794
dbSNP Clinvar 		31582380 433.77 A G PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.35 0.00 None None None None None None HECTD1|0.690391953|8.77%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 31793053 684.73 GA... GA... PASS 1/1 17 None None None None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs4595710
dbSNP Clinvar 		31806943 1052.74 T C PASS 1/1 19 None None None 0.80671 0.80670 None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8012940
dbSNP Clinvar 		31809486 560.77 C T PASS 1/1 16 None None None 0.80771 0.80770 None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 31809568 1103.73 GAAA GAAAA PASS 1/1 34 None None None None None None None None None HEATR5A|0.279604078|29.11%

HEATR5A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3736918
dbSNP Clinvar 		31819047 1895.77 C T PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.80511 0.80510 0.14316 0.00 0.99 6.76 None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7158257
dbSNP Clinvar 		31819913 826.77 A G PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.80511 0.80510 0.14350 None None None None None None HEATR5A|0.279604078|29.11%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 31819966 509.73 TT... TT... PASS 1/1 12 None None None None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs942907
dbSNP Clinvar 		31828076 2303.77 A C PASS 1/1 56 None None None 0.82029 0.82030 0.13145 None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs5025288
dbSNP Clinvar 		31841162 978.77 T C PASS 1/1 28 None None None 0.82228 0.82230 0.12135 None None None None None None HEATR5A|0.279604078|29.11%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3887865
dbSNP Clinvar 		31858025 851.77 C T PASS 1/1 24 None None None 0.81849 0.81850 0.13228 None None None None None None HEATR5A|0.279604078|29.11%

HEATR5A
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7141532
dbSNP Clinvar 		31864485 1792.77 G C PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.82867 0.82870 0.19 0.09 2.30 None None None None None None HEATR5A|0.279604078|29.11%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1540425
dbSNP Clinvar 		32296018 1750.77 A G PASS 1/1 45 None None None 0.95228 0.95230 None None None None None None NUBPL|0.359363492|23.47%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8006872
dbSNP Clinvar 		32315901 1152.77 A G PASS 1/1 30 None None None 0.99880 0.99880 None None None None None None NUBPL|0.359363492|23.47%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8004384
dbSNP Clinvar 		32563640 252.8 A G PASS 1/1 6 None None None 0.95248 0.95250 0.05239 None None None None None None ARHGAP5|0.713852354|8.15%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2273163
dbSNP Clinvar 		33242863 3342.77 T C PASS 1/1 88 None None None 0.52536 0.52540 0.42242 None None None None None None AKAP6|0.906075509|3.33%

AKAP6
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2239647
dbSNP Clinvar 		33292743 1697.77 A C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.71126 0.71130 0.34938 None None None None None None AKAP6|0.906075509|3.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1051695
dbSNP Clinvar 		33293122 2102.77 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.71026 0.71030 0.36060 0.81 0.00 -0.37 None None None None None None AKAP6|0.906075509|3.33%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1958541
dbSNP Clinvar 		34047414 781.77 T C PASS 1/1 21 None None None 0.60963 0.60960 None None None None None None NPAS3|0.999985495|0.09%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 34263034 448.73 TA... TA... PASS 1/1 36 None None None None None None None None None NPAS3|0.999985495|0.09%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1680709
dbSNP Clinvar 		34394886 709.77 G A PASS 1/1 19 None None None 0.94888 0.94890 None None None None None None EGLN3|0.909376236|3.26%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10137361
dbSNP Clinvar 		34396100 285.78 C T PASS 1/1 9 None None None 0.61761 0.61760 None None None None None None EGLN3|0.909376236|3.26%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs376473356
dbSNP Clinvar 		35008855 1988.77 A T PASS 1/1 54 None None None 0.00519 0.00519 0.00008 None None None None None None EAPP|0.593530598|12%

SNX6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12432539
dbSNP Clinvar 		35062312 738.77 C T PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.77316 0.77320 0.22627 None None None None None None SNX6|0.410196309|20.17%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7151774
dbSNP Clinvar 		35075022 822.77 G T PASS 1/1 23 None None None 0.77716 0.77720 None None None None None None SNX6|0.410196309|20.17%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11847568
dbSNP Clinvar 		35099099 3359.77 A G PASS 1/1 88 None None None 0.73922 0.73920 0.31275 None None None None None None SNX6|0.410196309|20.17%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 35099391 444.73 AG... AG... PASS 1/1 6 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3809452
dbSNP Clinvar 		35099597 315.78 C T PASS 1/1 9 None None None 0.71526 0.71530 None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 35182406 746.73 GA... GA... PASS 1/1 17 None None None None None None None None None CFL2|0.842179428|4.83%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs78458323
dbSNP Clinvar 		35183510 169.84 C T PASS 1/1 5 None None None 0.28914 0.28910 None None None None None None CFL2|0.842179428|4.83%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs17523492
dbSNP Clinvar 		35183645 1430.77 G A PASS 1/1 41 None None None 0.21785 0.21790 None None None None None None CFL2|0.842179428|4.83%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1712351
dbSNP Clinvar 		35477785 520.77 G A PASS 1/1 14 None None None 0.80511 0.80510 0.15611 None None None None None None SRP54|0.799515244|5.86%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1022714
dbSNP Clinvar 		35871407 1614.77 A G PASS 1/1 44 None None None 0.81729 0.81730 None None None None None None NFKBIA|0.951198752|2.23%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 35871441 2291.73 AG AG... PASS 1/1 5 None None None None None None None None None NFKBIA|0.951198752|2.23%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2233415
dbSNP Clinvar 		35872792 4973.77 A G PASS 1/1 128 None None None 0.66673 0.66670 None None None None None None NFKBIA|0.951198752|2.23%

INSM2
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1958260
dbSNP Clinvar 		36004075 4191.77 A G PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.99661 0.99660 0.00331 1.00 0.00 -1.27 None None None None None None INSM2|0.06370537|58.96%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 36121087 185.75 CA... CA... PASS 1/1 8 None None None None None None None None None RALGAPA1|0.794506491|5.98%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11847872
dbSNP Clinvar 		36231816 792.77 G A PASS 1/1 21 None None None 0.99481 0.99480 None None None None None None RALGAPA1|0.794506491|5.98%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs4900833
dbSNP Clinvar 		36768276 2477.77 T C PASS 1/1 47 None None None 0.84305 0.84310 0.15185 None None None None None None MBIP|0.515725513|15.13%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7154340
dbSNP Clinvar 		36781037 1270.77 C T PASS 1/1 30 None None None 0.78474 0.78470 None None None None None None MBIP|0.515725513|15.13%

MBIP
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3168891
dbSNP Clinvar 		36789729 4429.77 T G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.92692 0.92690 0.07704 1.00 0.00 0.96 None None None None None None MBIP|0.515725513|15.13%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2899849
dbSNP Clinvar 		36789775 3810.77 A T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.78594 0.78590 0.20614 0.21 0.00 -0.32 None None None None None None MBIP|0.515725513|15.13%
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11558802
dbSNP Clinvar 		36789795 3575.77 G A PASS 1/1 85 None None None 0.78634 0.78630 0.20915 None None None None None None MBIP|0.515725513|15.13%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3742592
dbSNP Clinvar 		36840650 3000.77 A T PASS 1/1 85 None None None 0.85943 0.85940 None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1012914
dbSNP Clinvar 		36944188 775.77 G A PASS 1/1 21 None None None 0.80711 0.80710 None None None None None None SFTA3|0.020716902|73.82%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 37203617 1022.73 TT... TT... PASS 1/1 24 None None None None None None None None None SLC25A21|0.96607917|1.84%