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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA10, AC020629.1, AC068620.1, ADAMTS7, AGAP3, AGAP6, ALG9, ANO7, AOAH, ASB10, ASXL3, ATG9B, B3GNT6, BAX, BCR, BTNL2, C10ORF68, C10orf113, C12orf60, C17orf100, C19orf25, CACNA1S, CBWD3, CCDC129, CCDC150, CD177, CDCP2, CELA1, CHIA, CLECL1, CNTNAP3B, COL26A1, COPZ2, CRIPAK, DCAF7, DEFB126, DHDH, DHRS1, DHRS4L2, DUSP13, EPPK1, FAM71D, FGFRL1, FOXD1, FOXD4, FOXD4L3, FSIP2, GAS2L1, GDPD4, GOLGA6L2, GOLGA6L6, GP6, GPATCH4, GPR33, GPRC6A, HBZ, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB5, HLA-G, HPR, HS3ST6, HSH2D, IAH1, IL32, IQSEC1, ITIH5, KIAA0040, KIR2DS4, KRT24, KRTAP10-1, KRTAP19-6, KRTAP29-1, LCA10, LEPREL2, LTN1, MADCAM1, MAML3, MDK, MDP1, MICA, MMP28, MS4A14, MUC19, MUC4, MYCT1, MZT2A, NAT10, NCAM1, NLRC3, NOP16, NUDT13, OR10AD1, OR13A1, OR13G1, OR1B1, OR2B11, OR2T12, OR2T2, OR2T35, OR2T4, OR2V2, OR4L1, OR51F1, OR52B4, OR5K3, OR5K4, OR5M1, OR6C3, OR7E24, OR7G3, P2RX5, PABPC1, PABPC3, PCDHA4, PDE4DIP, PEBP4, PGPEP1L, PKD1L2, PNLIPRP2, PNLIPRP3, PRAMEF4, PRDM15, PRR21, PRSS48, PSORS1C1, PTCHD3, RAI1, RASA4B, RBM25, RHBG, RIBC2, RIMBP3, RNASEH2B, RP11-156E8.1, RP11-17M16.1, RPGRIP1L, RRM2B, RYK, SARM1, SBK3, SCARF2, SHANK3, SIGLEC12, SIRPA, SIRPB1, SLAIN1, SLC22A10, SOCS5, SON, SPRR4, SRA1, SRRM3, SRSF8, TBP, TCEAL6, TCEB3CL, TCEB3CL2, TDG, TESC, TGIF1, TIGD6, TPSB2, TPSD1, TRIM64B, TTC24, TUT1, UBXN11, USP48, WNK1, ZBED6CL, ZFPM1, ZNF107, ZNF233, ZNF474, ZNF480, ZNF516, ZNF737, ZNF785, ZNF80, ZNF844, ZNF852,

+ Genes associated with diseases 24

Genes at Omim

ALG9, ASB10, ASXL3, BAX, BCR, BTNL2, CACNA1S, FSIP2, GP6, HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-G, RAI1, RNASEH2B, RPGRIP1L, RRM2B, SCARF2, SHANK3, SON, TBP, TGIF1, WNK1,

ALG9	Congenital disorder of glycosylation, type Il, 608776 (3) Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ASXL3	Bainbridge-Ropers syndrome, 615485 (3)
BAX	Colorectal cancer, somatic, 114500 (3) T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
CACNA1S	{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
FSIP2	Spermatogenic failure 34, 618153 (3)
GP6	Bleeding disorder, platelet-type, 11, 614201 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Drug-induced liver injury due to flucloxacillin} (3) {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G	{Asthma, susceptibility to}, 600807 (2)
RAI1	Smith-Magenis syndrome, 182290 (3)
RNASEH2B	Aicardi-Goutieres syndrome 2, 610181 (3)
RPGRIP1L	COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (3)
RRM2B	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
SON	ZTTK syndrome, 617140 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ALG9, ASXL3, BCR, CACNA1S, GP6, HLA-A, HLA-B, RAI1, RNASEH2B, RPGRIP1L, RRM2B, SCARF2, SHANK3, TBP, TGIF1, WNK1, ZNF480,

ALG9	Congenital disorder of glycosylation, type Il
ASXL3	Bainbridge-Ropers syndrome
BCR	CML treatment, response to
CACNA1S	Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1
GP6	Bleeding disorder, platelet-type, 11
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
RAI1	Smith-Magenis syndrome
RNASEH2B	Aicardi-Goutieres syndrome 2
RPGRIP1L	Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Retinal degeneration in ciliopathy, modifier of
RRM2B	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 Mitochondrial DNA depletion syndrome 8A Mitochondrial DNA depletion syndrome 8B
SCARF2	Van den Ende-Gupta syndrome
SHANK3	Phelan-McDermid syndrome Schizophrenia
TBP	Spinocerebellar ataxia 17
TGIF1	Holoprosencephaly 4
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 257
Number of Genes: 184

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KRTAP10-1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	21	rs781946879 dbSNP Clinvar	45959556	125273.0	A	ATG	.	0/1	547	FRAME_SHIFT	HIGH	None							None None	None None None None	TSPEAR\|0.035753201\|67.21%,KRTAP10-1\|0.003380457\|87.97%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	21	rs782130783 dbSNP Clinvar	45959557	112686.0	ATC	A	.	0/1	552	FRAME_SHIFT	HIGH	None							None None	None None None None	TSPEAR\|0.035753201\|67.21%,KRTAP10-1\|0.003380457\|87.97%
MUC19
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	12	rs60568788 dbSNP Clinvar	40879206	65431.9	C	CAG	.	0/1	423	FRAME_SHIFT	HIGH	None	0.02855	0.69250					None None	None None None None	MUC19\|0.001564481\|92.49%
ZNF852
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	3	rs36046723,rs554288350 dbSNP Clinvar	44540791	61636.3	TTC	T	.	1/1	276	FRAME_SHIFT	HIGH	None	0.99960	0.99960					None None	None None None None	ZNF852\|0.00970967\|81.06%
OR10AD1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	12	rs144247841,rs79650217 dbSNP Clinvar	48596875	60722.9	C	CA	.	1/1	553	FRAME_SHIFT	HIGH	None	0.20308	0.20310	0.23374				None None	None None None None	OR10AD1\|0.024706166\|71.93%
ZNF107
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	7	rs4717205,rs201020174 dbSNP Clinvar	64169019	53558.4	G	A,GAA	.	1/1	272	FRAME_SHIFT	HIGH	None	0.81150	0.81150	0.09056				None None	None None None None	ZNF107\|0.001700188\|91.88%
TPSD1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	16	rs3830782,rs397840555 dbSNP Clinvar	1306559	53308.3	AG	A	.	0/1	289	FRAME_SHIFT	HIGH	None	0.26777	0.26780	0.27117				None None	None None None None	TPSD1\|0.001154793\|94.69%
AGAP6
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	10	rs575835505 dbSNP Clinvar	51748681	51277.9	AC	A	.	0/1	365	FRAME_SHIFT	HIGH	None	0.06290	0.06290					None None	None None None None	AGAP6\|0.003119632\|88.45%
SRSF8
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	11	rs5793709 dbSNP Clinvar	94800902	50382.3	G	GC	.	1/1	267	FRAME_SHIFT	HIGH	None	0.99980	0.99980	0.00034				None None	None None None None	None
RAI1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	17	rs35068024 dbSNP Clinvar	17697098	49054.3	AGC	A	.	1/1	241	FRAME_SHIFT	HIGH	None							None None	None None None None	RAI1\|0.119478135\|47.54%
TCEAL6
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