Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
A1BG_chr19_58340183_58358492	58351384	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	384	0.0026	0	c.910 others(5): Show c.910+7C>T		A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	5/7				chr19	TogoVar
A1CF_chr10_50794409_50890627	50885574	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0040 a0002c0004t0018g0040	1	336	0.0030	0	c.-94 others(5): Show c.-94+7T>C		A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	1/12				chr10	TogoVar
A2ML1_chr12_8817621_8881787	8823179	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	366	0.0027	0	c.63- others(4): Show c.63-3T>C		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	1/35				chr12	TogoVar
A2ML1_chr12_8817621_8881787	8843369	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	361	0.0028	0	c.147 others(6): Show c.1476+8C>G		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	12/35				chr12	TogoVar
A2ML1_chr12_8817621_8881787	8843369	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02280.hp1 HG02572.hp2 others(2): Show HG02145.hp1 HG02280.hp1 HG02572.hp2 HG03098.hp1 HG03471.hp2	a0001 a0014 a0026 others(1): Show a0001 a0014 a0026 a0031	a0001c0001 a0014c0026 a0026c0043 others(1): Show a0001c0001 a0014c0026 a0026c0043 a0031c0044	a0001c0001t0003 a0014c0026t0002 a0026c0043t0002 others(1): Show a0001c0001t0003 a0014c0026t0002 a0026c0043t0002 a0031c0044t0004	a0001c0001t0003g0123 a0014c0026t0002g0021 a0014c0026t0002g0024 others(2): Show a0001c0001t0003g0123 a0014c0026t0002g0021 a0014c0026t0002g0024 a0026c0043t0002g0134 a0031c0044t0004g0033	5	365	0.0137	0	c.147 others(6): Show c.1476+8C>T		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	12/35				chr12	TogoVar
A2ML1_chr12_8817621_8881787	8847551	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03225.hp2 NA21309.hp1 HG03225.hp2 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0050 a0014c0035 a0001c0050 a0014c0035	a0001c0050t0004 a0014c0035t0002 a0001c0050t0004 a0014c0035t0002	a0001c0050t0004g0313 a0014c0035t0002g0213 a0001c0050t0004g0313 a0014c0035t0002g0213	2	366	0.0055	0	c.168 others(4): Show c.1686T>G	p.Val others(6): Show p.Val562Val	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	15/36	1717/5127	1686/4365	562/1454	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8849664	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0004 a0003c0037t0004	a0003c0037t0004g0122 a0003c0037t0004g0122	1	366	0.0027	0	c.202 others(6): Show c.2029-5A>C		A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	16/35				chr12	TogoVar
A2M_chr12_9062708_9120919	9090027	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18953.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19066.hp1 NA19240.hp2 NA20300.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0003 a0001c0021 others(2): Show a0001c0001 a0001c0003 a0001c0021 a0013c0014 a0014c0013	a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 a0013c0014t0002 a0014c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0048 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0021t0002g0076 a0013c0014t0002g0079 a0014c0013t0002g0049	50	330	0.1515	0	c.259 others(6): Show c.2597-4T>A		A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	20/35				chr12	TogoVar
A2M_chr12_9062708_9120919	9093580	CTATGG CTATGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18953.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19066.hp1 NA19240.hp2 NA20300.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0003 a0001c0021 others(2): Show a0001c0001 a0001c0003 a0001c0021 a0013c0014 a0014c0013	a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 a0013c0014t0002 a0014c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0048 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0021t0002g0076 a0013c0014t0002g0079 a0014c0013t0002g0049	50	330	0.1515	-5	c.212 others(18): Show c.2126-6_2126-2delCCATA		A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35				chr12	TogoVar
A2M_chr12_9062708_9120919	9099527	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	330	0.0030	0	c.155 others(6): Show c.1559-4C>T		A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	13/35				chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33319775	CCAGGCTT others(2551): Show CCAGGCTTTCCAGTCCCTAGTTCTACCCCCTGGGGATCAACTAATCAGCT TGTTTCTCCTCCAATAAGTATCCGTGTTCTTTAGGTGAAAAGCCCCAACC TACTGCAGGTTTTCAGGGTGCACCTTCAGTAGGCATTTGCCATTCCTGTT TACACTTTACACCAAGGCATTTGCACGGCGGGTAATGGGTGGGGTTGGGC TTTGAGTAGGACTGCCCGATCCCCCAGCCAGAGCTTCCAGCATGGCATTT GGGTTCCATTTGACCTGGGCCTAGCTCAGCCCTGAGGCTCATCTCACAAG GTTCTCGGCCCTGTTATTTCTCCCCGTGGGCTTGGCTTCTTCCCTTCGCA CTCTATTCAGCTCCTGTCTGAGCTCCTGGAGGGCTGGCTGCAGCTGGGCT TCTCTGGTTCCTAGAAGCCTGGTCAAACCCCGTACTGGGAGCTGGCAAGG CTGCCTCGGGAGGTGCACTGTGGGAGGTGTGCGAGGTACTGCGTAAGGTA CTACAGGAGCAGGAAAAGGCTGGAGGGGCTTTCTCCCCCTCTGTGGCTGT CCCACCCTCTTCACCAGCCTCCTCCCAACCAGGGTAGGGCAAACCGATGC TTATTCTGGGCTCTGGGCCTCAGCCAGGGCACACAGGCAGAGTTGGTCTT GTGAACTCCTGTGGTCAGGCCTGGGAGGGTGCTGAGACCCAGGACTGGGT GGGACCCACCAGCTCCTCCTGCCCCTCCTATGCCCCAGCCTGGGAGCCCG TGGTCTGTGGAGGCCCCTGATCAGTCCACTCCTCCACATTTCTTGTTCAG GTTCTACCTGCAGAAGGTGGTCCCTCAAGCTCCACCCTGTGCCCTGCTCC CCACTCTCGTTGGCTTCAAGAAAGGGTTAAAGATCAGCCATTAGGTCTTA AGGGGGCACAGGTTCCTAGTCCTGGACCATCAGTCCCAGTGGGGATAGAG GGAGCTCTCAGTTACAGTCGGGGAGGGAATGTACCCCCGGGTCTCTGCTT TCCGGCTCGCCAAGGGGGTTTAGAGTTAAGGGAAGCAAGGGGAGTCCAGC TTTTCATTGGCTACAAAATCTTGTGGAATACAACCTCCCCCACCCCGGTG TCCATGCACACGGATTGTCTTTCTTCTCCTGGGGCAATGTCCCCTCTCGG AGCCACCTTTCCCCAGGACTGGAGGCTCAGCTGGTACTCCTGGGCTCACT CTGGTGCCTCCCCTTGGTACTGTTTTAGCCATCAGACTGGATCCCTCTTA GCTCAGCTGTCCCCAAGCTTTCTTCCTCTCCATACCATTGTCCCCCCTCA CCTGAGTCCCTCCTTGAGAGCCATATGGGGAAGCAGGTAGGATGGCCTGG AGCAAACTTTCCCAGCTTAGAGCTGGGGAAGAAATGGCCTGCTCCTGGAG ATCTGGAACAAGCAGCTCCTCCCCCTTTACCTGAGGAGCTGCACCCACAG GAGCAGTCAGGATGGACTGCCTGCGAGGGACCTGCCGGGGATGCAACCTT TTGGGGGAAGCTGGCCCCAAGGTGGAGTGGGGCTGGCAACCCTTTTGGGG CCAATCACCTGGAAGAGGGTGGGTCTGAGTAGGCCAGTTCTGGTTGGCTG GAGGCTCTGTCATTTTGTACAGACTCCTCTTCCCTCCCCAGGGGAAGTGT CTTTGGTTCTTGGGAACAGCTGGCAATCAAGGTATGGTGTTTGCCACGCA GGAAAAGCCGTTCTGCACAGAGCCTCAGCCAGATCTGAAGGGCACTCGGC ACCTGTGACCTTGGACAGTTCACCTAGTGGAGCCCTTTACCTTCTCAGTA GAATGTACACCAGTACATACACCAGTCACCCAGGAGAGAGAACCATGTAA ATTCGTGGATGTTGAACCGTTGTGATTTACTCTGGGCAGTGCTTTTTAAA GTTCCAGTTGTGACCTATCTGAAGGCCGTGTAATGAGTTTAGTGGGTCGT GACCAAGATTTTTAAAATACGAACAGGAATACAATGGAAAATATTCTATA TTGTACGTAAGGGTAGGTTTTGTTTCATGAAATGTTTGTTTCAGTTGATA GATATTGAAATGTGTATACAAGTTTGGGAAATATTTCTTTAAATTGTGGA TCATGATGGAAATAGGTCTGTGAAATTCAGTGTGAAGTGTAAACAACAGG AATAGCAAATGCCTATTGCAGGTGCACCCTGCAAACTTGCAGCAGGTTGG AGCTTTTCATCTAAAGAAGATGGATACTTATTGGTGTGAATCAAATTCAC CACATCTTCTTTTAGGAGTAGGTTTGGTTCCCTCCCTCTTTGCTACACAC AACAAACTCAGGTGGGGCCTGGTTTTCATTTTCTTCCATAAAGGGAAAAT TAAGGTCCAGAAAGTGAAAAGAACTGCCCAGAGTCCTATAGGCCAGTGGT GCACCTGCGCACGTGGCCTGCACTCCAGCAGCAGGAGAGGCGGCAGCACA TGGGGCGTTCGTTCTTGCCTGGGGGCTCCCCAGGGCTCACTCCCCAATCT CAGCATCCTCCTCCTCCCGTCAGCTCAGGGTCCTGCCAGCCATTCCCTGC CTCCTGGGA	C C	exon_loss_variant others(3): Show exon_loss_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00735.hp1 NA19007.hp1 HG00735.hp1 NA19007.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0056 a0004c0008t0001g0057 a0004c0008t0001g0056 a0004c0008t0001g0057	2	416	0.0048	-2558	c.-12 others(13): Show c.-1235_23+1300del		A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	1/5				chr1	TogoVar
AACS_chr12_125060435_125148316	125114478	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0120 a0008c0023t0003g0120	1	362	0.0028	0	c.917 others(3): Show c.917G>A	p.Gly others(6): Show p.Gly306Asp	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/18	1067/3256	917/2019	306/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125124699	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	362	0.0028	0	c.112 others(6): Show c.1122-6C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125143315	C C	T T	splice_region_variant splice_region_variant	LOW	HG03491.hp2 HG03492.hp2 HG03704.hp2 others(1): Show HG03491.hp2 HG03492.hp2 HG03704.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 others(1): Show a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277	4	362	0.0110	0	c.10 others(5): Show c.1086C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	18/18				chr12	TogoVar
AADACL4_chr1_12639085_12672076	12661792	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	0	c.387 others(3): Show c.387T>G	p.Asp others(6): Show p.Asp129Glu	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	849/2027	387/1224	129/407	chr1	TogoVar
AADAC_chr3_151809116_151833488	151817358	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG01891.hp1 HG02717.hp1 others(3): Show HG01433.hp1 HG01891.hp1 HG02717.hp1 HG02922.hp2 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0112 a0001c0001t0001g0019 a0001c0001t0001g0112	6	438	0.0137	0	c.139 others(5): Show c.139-8A>T		AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	1/4				chr3	TogoVar
AADAT_chr4_170055222_170094956	170066485	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(320): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0015 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0099 a0001c0001t0002g0121 a0001c0001t0002g0199 a0001c0001t0003g0009 a0001c0001t0003g0069 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0154 a0001c0001t0003g0198 a0001c0001t0004g0046 a0001c0001t0006g0062 a0001c0001t0007g0144 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143	323	376	0.8590	0	c.963 others(5): Show c.963-7T>C		AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	9/12				chr4	TogoVar
AADAT_chr4_170055222_170094956	170067319	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG03195.hp2 HG00639.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	2	376	0.0053	0	c.962 others(5): Show c.962+8A>C		AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	9/12				chr4	TogoVar
AAK1_chr2_69452997_69648739	69480853	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0205 a0001c0001t0010g0205	1	296	0.0034	0	c.256 others(6): Show c.2569+7C>G		AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	19/21				chr2	TogoVar
AAMP_chr2_218259129_218275137	218265182	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG01069.hp2 HG01167.hp1 others(1): Show HG00099.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0016 a0001c0001t0001g0047	4	398	0.0101	0	c.107 others(6): Show c.1075-8C>T		AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	9/10				chr2	TogoVar
AAMP_chr2_218259129_218275137	218267617	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	398	0.0025	0	c.275 others(5): Show c.275-4A>G		AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/10				chr2	TogoVar
AANAT_chr17_76462603_76475117	76469325	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA19062.hp1 NA19062.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0001	1	424	0.0024	0	c.316 others(3): Show c.316C>T	p.Gln others(4): Show p.Gln106*	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	3/4	516/971	316/624	106/207	chr17	TogoVar
AARS1_chr16_70247298_70294506	70258221	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	360	0.0028	0	c.199 others(6): Show c.1993-4G>A		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20				chr16	TogoVar
AARS1_chr16_70247298_70294506	70271778	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0009 a0002 a0009	a0002c0004 a0009c0009 a0002c0004 a0009c0009	a0002c0004t0001 a0009c0009t0001 a0002c0004t0001 a0009c0009t0001	a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0009c0009t0001g0334	25	360	0.0694	0	c.671 others(5): Show c.671+3A>G		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	5/20				chr16	TogoVar
AARS1_chr16_70247298_70294506	70289413	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	360	0.0028	0	c.-22 others(5): Show c.-22+8G>A		AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	1/20				chr16	TogoVar
AARS2_chr6_44293731_44318347	44302383	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0074 a0002c0003t0025g0074	1	393	0.0025	0	c.248 others(6): Show c.2487+8C>T		AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	18/21				chr6	TogoVar
AARS2_chr6_44293731_44318347	44304173	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	394	0.0025	0	c.200 others(6): Show c.2007+8C>T		AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	14/21				chr6	TogoVar
AARS2_chr6_44293731_44318347	44304645	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00673.hp2 HG01884.hp1 HG03831.hp1 others(1): Show HG00673.hp2 HG01884.hp1 HG03831.hp1 HG03942.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0023 a0002c0006t0004g0049 a0002c0006t0004g0023 a0002c0006t0004g0049	4	394	0.0102	0	c.175 others(4): Show c.1752G>A	p.Glu others(6): Show p.Glu584Glu	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	12/22	1776/4798	1752/2958	584/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44310448	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG03225.hp1 HG01891.hp1 HG03225.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0012 a0007c0009t0012	a0007c0009t0012g0033 a0007c0009t0012g0033	2	394	0.0051	0	c.750 others(5): Show c.750-5G>A		AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	4/21				chr6	TogoVar
AARS2_chr6_44293731_44318347	44312266	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0076 a0002c0003t0008g0076	1	394	0.0025	0	c.244 others(5): Show c.244-3C>T		AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	1/21				chr6	TogoVar
AARS2_chr6_44293731_44318347	44313075	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(145): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0010 a0013 a0014	a0001c0001 a0001c0002 a0001c0017 others(9): Show a0001c0001 a0001c0002 a0001c0017 a0001c0020 a0002c0003 a0002c0006 a0002c0014 a0003c0004 a0009c0022 a0010c0019 a0013c0021 a0014c0016	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(15): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0002t0003 a0001c0002t0007 a0001c0017t0021 a0001c0020t0001 a0002c0003t0004 a0002c0003t0013 a0002c0006t0004 a0002c0014t0001 a0003c0004t0001 a0009c0022t0001 a0010c0019t0001 a0013c0021t0001 a0014c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0011g0028 a0001c0001t0014g0056 a0001c0001t0016g0057 a0001c0001t0018g0053 a0001c0002t0003g0044 a0001c0002t0003g0052 a0001c0002t0007g0014 a0001c0017t0021g0054 a0001c0020t0001g0064 a0002c0003t0004g0007 a0002c0003t0004g0051 a0002c0003t0013g0042 a0002c0006t0004g0049 a0002c0014t0001g0050 a0003c0004t0001g0012 a0009c0022t0001g0098 a0010c0019t0001g0046 a0013c0021t0001g0065 a0014c0016t0001g0067	148	394	0.3756	0	c.243 others(5): Show c.243+6G>A		AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	1/21				chr6	TogoVar
AARSD1_chr17_42945526_42969454	42954966	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0119 a0004c0005t0001g0150 a0004c0005t0001g0119 a0004c0005t0001g0150	2	322	0.0062	0	c.863 others(3): Show c.863A>G	p.Asn others(6): Show p.Asn288Ser	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	9/12	877/1320	863/1239	288/412	chr17	TogoVar
AASDH_chr4_56333290_56392491	56338794	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(38): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01516.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02293.hp2 HG02647.hp1 HG03471.hp2 HG03688.hp1 HG03834.hp1 NA18906.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18998.hp2 NA19001.hp2 NA19009.hp2 NA19011.hp2 NA19058.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA21309.hp2	a0001 a0013 a0001 a0013	a0001c0005 a0013c0021 a0001c0005 a0013c0021	a0001c0005t0001 a0001c0005t0005 a0013c0021t0001 a0001c0005t0001 a0001c0005t0005 a0013c0021t0001	a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(35): Show a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0058 a0001c0005t0001g0242 a0001c0005t0001g0284 a0001c0005t0001g0285 a0001c0005t0001g0298 a0001c0005t0001g0299 a0001c0005t0001g0300 a0001c0005t0001g0301 a0001c0005t0001g0302 a0001c0005t0001g0303 a0001c0005t0001g0304 a0001c0005t0001g0305 a0001c0005t0001g0306 a0001c0005t0001g0307 a0001c0005t0001g0308 a0001c0005t0001g0309 a0001c0005t0001g0310 a0001c0005t0001g0311 a0001c0005t0001g0312 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0001c0005t0001g0322 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0005g0030 a0013c0021t0001g0325	41	380	0.1079	0	c.290 others(6): Show c.2908-3T>C		AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14				chr4	TogoVar
AASDH_chr4_56333290_56392491	56353396	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0032	1	380	0.0026	0	c.157 others(6): Show c.1576+8A>T		AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	9/14				chr4	TogoVar
AASDH_chr4_56333290_56392491	56355182	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(54): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01261.hp1 HG01891.hp1 HG02015.hp1 HG02080.hp2 HG02523.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0004 a0008 a0014 a0004 a0008 a0014	a0004c0004 a0004c0025 a0008c0012 others(1): Show a0004c0004 a0004c0025 a0008c0012 a0014c0022	a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 others(2): Show a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 a0008c0012t0001 a0014c0022t0001	a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 others(46): Show a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0041 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0152 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0006g0031 a0004c0025t0001g0126 a0008c0012t0001g0153 a0008c0012t0001g0154 a0014c0022t0001g0109	57	380	0.1500	0	c.110 others(4): Show c.1103A>G	p.Lys others(6): Show p.Lys368Arg	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	6/15	1275/3581	1103/3297	368/1098	chr4	TogoVar
AASS_chr7_122068549_122149249	122098872	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00609.hp2 HG00639.hp1 others(92): Show HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18939.hp1 NA18943.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18973.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19079.hp1 NA19086.hp1 NA20905.hp2 NA21309.hp1	a0001 a0008 a0009 others(2): Show a0001 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0008c0007 others(3): Show a0001c0001 a0001c0003 a0008c0007 a0009c0011 a0010c0012 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0033 a0001c0003t0010 a0008c0007t0003 a0009c0011t0011 a0010c0012t0003 a0011c0013t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0043 others(84): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0225 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0310 a0001c0001t0002g0198 a0001c0001t0002g0215 a0001c0001t0002g0228 a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0171 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0306 a0001c0001t0003g0309 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0004g0177 a0001c0001t0005g0112 a0001c0001t0011g0056 a0001c0001t0012g0051 a0001c0001t0014g0277 a0001c0001t0016g0316 a0001c0001t0017g0300 a0001c0001t0018g0292 a0001c0001t0023g0227 a0001c0001t0033g0066 a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065 a0008c0007t0003g0285 a0009c0011t0011g0049 a0010c0012t0003g0294 a0011c0013t0001g0058	95	356	0.2669	1	c.140 others(7): Show c.1407-7dupT		AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	13/23				chr7	TogoVar
AASS_chr7_122068549_122149249	122098872	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00597.hp2 HG02055.hp1 others(4): Show HG00558.hp2 HG00597.hp2 HG02055.hp1 HG02148.hp1 HG02572.hp2 HG02738.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0052 a0001c0001t0003g0279 a0001c0001t0003g0280 others(4): Show a0001c0001t0001g0052 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0308 a0001c0001t0004g0172	7	268	0.0261	2	c.140 others(15): Show c.1407-8_1407-7dupTT		AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	13/23				chr7	TogoVar
AASS_chr7_122068549_122149249	122098872	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01099.hp1 HG01168.hp2 others(14): Show HG00323.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG02451.hp1 HG02602.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp1 NA18951.hp1 NA18955.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA19087.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0010 a0001c0001 a0003c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0003c0004t0001 a0005c0010t0007	a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0092 others(13): Show a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0002g0028 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0240 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0006g0038 a0003c0004t0001g0129 a0005c0010t0007g0143	17	278	0.0612	-1	c.140 others(7): Show c.1407-7delT		AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	13/23				chr7	TogoVar
AATF_chr17_36943954_37061871	36953914	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0036 a0006c0006t0001g0036	1	244	0.0041	0	c.832 others(5): Show c.832+7A>C		AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	4/11				chr17	TogoVar
AATK_chr17_81112295_81171221	81124719	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0002 a0011c0041t0002	a0011c0041t0002g0341 a0011c0041t0002g0341	1	366	0.0027	0	c.962 others(5): Show c.962+8C>T		AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	9/13				chr17	TogoVar
AATK_chr17_81112295_81171221	81125014	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0071 a0007c0071	a0007c0071t0001 a0007c0071t0001	a0007c0071t0001g0201 a0007c0071t0001g0201	1	366	0.0027	0	c.756 others(3): Show c.756C>T	p.Ser others(6): Show p.Ser252Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	8/14	985/5461	756/4125	252/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81165939	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0001 a0002c0075t0001	a0002c0075t0001g0344 a0002c0075t0001g0344	1	366	0.0027	0	c.54C others(2): Show c.54C>T	p.Pro others(5): Show p.Pro18Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/14	283/5461	54/4125	18/1374	chr17	TogoVar
ABAT_chr16_8669617_8789570	8746097	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0011 others(6): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0001c0021 a0001c0022 a0001c0023 a0004c0020 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0003t0044 a0001c0011t0001 a0001c0011t0002 a0001c0013t0002 a0001c0021t0001 a0001c0022t0002 a0001c0023t0024 a0004c0020t0005 a0006c0014t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(193): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0001g0361 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0243 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0317 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0061 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0131 a0001c0001t0003g0164 a0001c0001t0003g0212 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0324 a0001c0001t0003g0353 a0001c0001t0004g0066 a0001c0001t0004g0097 a0001c0001t0004g0118 a0001c0001t0004g0126 a0001c0001t0004g0268 a0001c0001t0004g0320 a0001c0001t0004g0325 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0056 a0001c0001t0005g0075 a0001c0001t0005g0106 a0001c0001t0005g0226 a0001c0001t0005g0294 a0001c0001t0006g0298 a0001c0001t0006g0307 a0001c0001t0008g0034 a0001c0001t0009g0279 a0001c0001t0011g0232 a0001c0001t0011g0326 a0001c0001t0012g0246 a0001c0001t0021g0323 a0001c0001t0022g0030 a0001c0001t0023g0205 a0001c0001t0025g0259 a0001c0001t0028g0072 a0001c0001t0037g0286 a0001c0001t0039g0103 a0001c0001t0040g0287 a0001c0001t0042g0088 a0001c0001t0043g0049 a0001c0001t0047g0309 a0001c0003t0001g0028 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0099 a0001c0003t0001g0228 a0001c0003t0001g0235 a0001c0003t0001g0247 a0001c0003t0001g0356 a0001c0003t0002g0052 a0001c0003t0002g0127 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0182 a0001c0003t0002g0244 a0001c0003t0003g0055 a0001c0003t0003g0069 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0084 a0001c0003t0003g0089 a0001c0003t0003g0102 a0001c0003t0003g0107 a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0003g0123 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0147 a0001c0003t0003g0153 a0001c0003t0003g0159 a0001c0003t0003g0168 a0001c0003t0003g0178 a0001c0003t0003g0204 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0216 a0001c0003t0003g0230 a0001c0003t0003g0258 a0001c0003t0003g0262 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0295 a0001c0003t0003g0299 a0001c0003t0003g0345 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0004g0108 a0001c0003t0004g0142 a0001c0003t0004g0274 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0004g0289 a0001c0003t0004g0360 a0001c0003t0005g0227 a0001c0003t0015g0063 a0001c0003t0035g0261 a0001c0003t0036g0150 a0001c0003t0044g0256 a0001c0011t0001g0199 a0001c0011t0002g0198 a0001c0013t0002g0196 a0001c0013t0002g0197 a0001c0021t0001g0120 a0001c0022t0002g0257 a0001c0023t0024g0276 a0004c0020t0005g0321 a0006c0014t0001g0035	196	360	0.5444	0	c.167 others(3): Show c.167A>G	p.Gln others(5): Show p.Gln56Arg	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	3/16	303/4779	167/1503	56/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8748103	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(177): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0001c0021 a0001c0022 a0001c0023 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0003t0044 a0001c0011t0001 a0001c0011t0002 a0001c0021t0001 a0001c0022t0002 a0001c0023t0024 a0004c0020t0005	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(177): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0361 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0243 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0317 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0061 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0131 a0001c0001t0003g0164 a0001c0001t0003g0212 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0004g0066 a0001c0001t0004g0097 a0001c0001t0004g0118 a0001c0001t0004g0126 a0001c0001t0004g0268 a0001c0001t0004g0320 a0001c0001t0004g0325 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0056 a0001c0001t0005g0075 a0001c0001t0005g0106 a0001c0001t0005g0226 a0001c0001t0005g0294 a0001c0001t0009g0279 a0001c0001t0011g0232 a0001c0001t0011g0326 a0001c0001t0012g0246 a0001c0001t0021g0323 a0001c0001t0022g0030 a0001c0001t0023g0205 a0001c0001t0025g0259 a0001c0001t0028g0072 a0001c0001t0037g0286 a0001c0001t0039g0103 a0001c0001t0040g0287 a0001c0001t0042g0088 a0001c0001t0043g0049 a0001c0003t0001g0028 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0099 a0001c0003t0001g0228 a0001c0003t0001g0235 a0001c0003t0001g0247 a0001c0003t0001g0356 a0001c0003t0002g0052 a0001c0003t0002g0127 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0182 a0001c0003t0002g0244 a0001c0003t0003g0055 a0001c0003t0003g0069 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0084 a0001c0003t0003g0089 a0001c0003t0003g0102 a0001c0003t0003g0107 a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0003g0123 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0147 a0001c0003t0003g0153 a0001c0003t0003g0159 a0001c0003t0003g0168 a0001c0003t0003g0178 a0001c0003t0003g0204 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0216 a0001c0003t0003g0230 a0001c0003t0003g0258 a0001c0003t0003g0262 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0295 a0001c0003t0003g0299 a0001c0003t0003g0345 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0004g0108 a0001c0003t0004g0142 a0001c0003t0004g0274 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0004g0289 a0001c0003t0004g0360 a0001c0003t0005g0227 a0001c0003t0015g0063 a0001c0003t0035g0261 a0001c0003t0036g0150 a0001c0003t0044g0256 a0001c0011t0001g0199 a0001c0011t0002g0198 a0001c0021t0001g0120 a0001c0022t0002g0257 a0001c0023t0024g0276 a0004c0020t0005g0321	180	360	0.5000	0	c.169 others(5): Show c.169-5T>C		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	3/15				chr16	TogoVar
ABAT_chr16_8669617_8789570	8766273	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	360	0.0028	0	c.603 others(5): Show c.603+3G>A		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	9/15				chr16	TogoVar
ABAT_chr16_8669617_8789570	8768980	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0343 a0002c0006t0002g0343	1	360	0.0028	0	c.816 others(5): Show c.816+7C>A		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15				chr16	TogoVar
ABAT_chr16_8669617_8789570	8772774	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	360	0.0028	0	c.817 others(5): Show c.817-6A>G		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15				chr16	TogoVar
ABAT_chr16_8669617_8789570	8772921	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	360	0.0028	0	c.954 others(5): Show c.954+4A>G		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15				chr16	TogoVar
ABAT_chr16_8669617_8789570	8779475	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01346.hp1 HG02630.hp1 others(5): Show HG01106.hp2 HG01346.hp1 HG02630.hp1 HG03041.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0018	a0001c0001t0021 a0002c0002t0019 a0002c0002t0020 others(5): Show a0001c0001t0021 a0002c0002t0019 a0002c0002t0020 a0002c0002t0032 a0002c0002t0034 a0002c0002t0045 a0002c0004t0031 a0002c0018t0046	a0001c0001t0021g0323 a0002c0002t0019g0002 a0002c0002t0020g0238 others(5): Show a0001c0001t0021g0323 a0002c0002t0019g0002 a0002c0002t0020g0238 a0002c0002t0032g0149 a0002c0002t0034g0040 a0002c0002t0045g0306 a0002c0004t0031g0328 a0002c0018t0046g0330	8	360	0.0222	0	c.127 others(6): Show c.1270-4A>G		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	14/15				chr16	TogoVar
ABCA10_chr17_69143007_69233824	69153832	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 a0004c0004t0003g0108 a0004c0004t0003g0144 a0004c0004t0003g0194 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0248 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0271 a0004c0004t0003g0279 a0004c0004t0003g0303 a0004c0004t0011g0313 a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327	42	346	0.1214	0	c.396 others(4): Show c.3964C>T	p.Arg others(5): Show p.Arg1322*	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4520/6008	3964/4632	1322/1543	chr17	TogoVar

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