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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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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

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TRAV6
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	rs766738 dbSNP Clinvar	22236756	1475.73	G	C	PASS	0/1	113	NON_SYNONYMOUS_CODING	MODERATE	None	0.00200	0.18370	0.09117	0.07	0.00		None None	None None None None	None
	View	62388010_s7 mvar 62388010_S7.SAMTOOLS	14	rs11623408 dbSNP Clinvar	22236771	1724.77	C	T	PASS	0/1	108	SYNONYMOUS_CODING	LOW	None	0.15515	0.15520	0.21018				None None	None None None None	None
	View	62388010_s7 mvar 62388010_S7.SAMTOOLS	14	rs34634018 dbSNP Clinvar	22236776	1473.77	C	T	PASS	0/1	108	NON_SYNONYMOUS_CODING	MODERATE	None	0.03135	0.03135	0.01969	0.01	0.01		None None	None None None None	None
NGDN
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	rs2236261 dbSNP Clinvar	23944514	4306.77	C	A	PASS	1/1	96	SYNONYMOUS_CODING	LOW	None	0.67832	0.67830	0.26034				None None	None None None None	NGDN\|0.814772649\|5.46%
LRRC16B
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	rs1951635 dbSNP Clinvar	24529890	3379.77	A	G	PASS	1/1	88	SYNONYMOUS_CODING	LOW	None	0.96326	0.96330	0.08919				None None	None None None None	LRRC16B\|0.163892643\|41.04%
BDKRB1
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	rs2071084 dbSNP Clinvar	96730142	4997.77	A	G	PASS	1/1	133	SYNONYMOUS_CODING	LOW	None	0.83427	0.83430	0.13125				None None	None None None None	BDKRB1\|0.016704422\|76.07%
	View	62388010_s7 mvar 62388010_S7.SAMTOOLS	14	rs33925361 dbSNP Clinvar	96730718	3606.77	G	A	PASS	1/1	97	SYNONYMOUS_CODING	LOW	None	0.11721	0.11720	0.09080				None None	None None None None	BDKRB1\|0.016704422\|76.07%
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	.	104498261	21.0	C	T	PASS	0/1	19	None	None	None							None None	None None None None	TDRD9\|0.024054474\|72.2%
IGHV1-58
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	rs2516904 dbSNP Clinvar	107078567	2714.77	T	C	PASS	0/1	174	NON_SYNONYMOUS_CODING	MODERATE	None	0.38698	0.38700	0.46672	0.10	0.02		None None	None None None None	None
	View	62388010_s7 mvar 62388010_S7.SAMTOOLS	14	rs1858692 dbSNP Clinvar	107078790	4150.77	C	T	PASS	1/1	112	NON_SYNONYMOUS_CODING	MODERATE	None	0.83347	0.83350	0.16040	1.00	0.00		None None	None None None None	None
DHRS7
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	rs399535 dbSNP Clinvar	60611648	177.77	C	T	PASS	0/1	22	None	None	None	0.36242	0.36240	0.27580	0.00	0.15	0.75	None None	None None None None	PCNXL4\|0.137810301\|44.72%,DHRS7\|0.04054279\|65.61%
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	rs28699670 dbSNP Clinvar	50647251	50.0	T	A	PASS	1/1	3	None	None	None		0.26000					None None	None None None None	SOS2\|0.476852628\|16.91%
	View	62388010_s7 mvar 62388010_S7.SAMTOOLS	14	.	50655146	64.73	CT...	CTAT	PASS	0/1	10	None	None	None							None None	None None None None	SOS2\|0.476852628\|16.91%
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%
	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%