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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A2ML1_chr12_8817621_8881787	8840978	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(17): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp2 HG01952.hp1 HG02132.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02965.hp1 HG02976.hp2 HG03540.hp1 HG03669.hp2 HG06807.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0011 a0016 a0019	a0001c0001 a0001c0002 a0002c0004 others(6): Show a0001c0001 a0001c0002 a0002c0004 a0002c0007 a0003c0022 a0007c0011 a0011c0010 a0016c0016 a0019c0024	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0004t0001 a0002c0004t0003 a0002c0007t0003 a0003c0022t0004 a0007c0011t0002 a0011c0010t0004 a0016c0016t0002 a0019c0024t0001	a0001c0001t0001g0089 a0001c0001t0001g0204 a0001c0001t0001g0205 others(15): Show a0001c0001t0001g0089 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0297 a0001c0001t0003g0079 a0001c0002t0002g0050 a0001c0002t0002g0051 a0002c0004t0001g0121 a0002c0004t0003g0090 a0002c0007t0003g0001 a0002c0007t0003g0049 a0002c0007t0003g0118 a0003c0022t0004g0218 a0007c0011t0002g0076 a0011c0010t0004g0117 a0016c0016t0002g0011 a0019c0024t0001g0091 a0019c0024t0001g0095	20	283	0.0707	16	c.108 others(33): Show c.1081-372_1081-357dupAGGAAGGAAGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841005	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0002 a0003c0034t0002	a0003c0034t0002g0012 a0003c0034t0002g0012	1	366	0.0027	16	c.108 others(33): Show c.1081-357_1081-356insAGGAAGGACGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(56): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00642.hp2 HG00738.hp2 HG01106.hp1 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG03041.hp2 HG03098.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18972.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp1 NA19060.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA20300.hp1 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0031 a0004c0006 a0004c0052 a0006c0012 a0006c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0001c0031t0001 a0004c0006t0001 a0004c0052t0001 a0006c0012t0001 a0006c0030t0001	a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0097 others(53): Show a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0282 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0001g0329 a0001c0001t0001g0337 a0001c0001t0002g0177 a0001c0001t0003g0008 a0001c0001t0003g0123 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0278 a0001c0001t0003g0300 a0001c0001t0004g0030 a0001c0002t0001g0281 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0055 a0001c0002t0002g0150 a0001c0002t0002g0179 a0001c0002t0002g0283 a0001c0002t0002g0347 a0001c0002t0002g0351 a0001c0003t0001g0004 a0001c0003t0001g0227 a0001c0003t0001g0241 a0001c0003t0001g0269 a0001c0003t0002g0264 a0001c0003t0003g0263 a0001c0003t0003g0265 a0001c0005t0002g0010 a0001c0005t0002g0228 a0001c0031t0001g0186 a0004c0006t0001g0002 a0004c0006t0001g0054 a0004c0006t0001g0056 a0004c0006t0001g0108 a0004c0006t0001g0109 a0004c0006t0001g0339 a0004c0052t0001g0234 a0006c0012t0001g0155 a0006c0030t0001g0315	59	166	0.3554	16	c.108 others(33): Show c.1081-357_1081-356insAGGAAGGAAGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841021	A A	AGGAAGGA others(9): Show AGGAAGGAAGGACGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	364	0.0027	16	c.108 others(33): Show c.1081-337_1081-336insCGGACGGAAGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CATGTGTG others(9): Show CATGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 NA18522.hp1 HG01109.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0071 a0001c0001t0002g0053 a0001c0001t0002g0071	2	80	0.0250	16	c.-50 others(27): Show c.-5004_-5003insACACACACACACACAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	79	0.0127	16	c.-50 others(27): Show c.-5004_-5003insACACACACACACACAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0001 a0001c0001t0001g0035	2	201	0.0100	16	c.336 others(33): Show c.336-1313_336-1298dupAAAAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18962.hp1 NA18980.hp1 HG00673.hp2 NA18962.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0128 a0001c0001t0002g0164 a0001c0001t0002g0104 a0001c0001t0002g0128 a0001c0001t0002g0164	3	120	0.0250	16	c.-18 others(33): Show c.-187-506_-187-491dupTTTTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp2 HG02615.hp1 others(5): Show HG00642.hp2 HG02109.hp2 HG02615.hp1 HG02622.hp2 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03491.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0002t0023 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0023 a0002c0003t0001 a0004c0005t0010	a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0004g0287 others(5): Show a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0004g0287 a0001c0002t0023g0277 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0257 a0004c0005t0010g0089	8	19	0.4211	16	c.-18 others(35): Show c.-187-7491_-187-7476dupCACACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp2 others(33): Show HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02015.hp1 HG02698.hp1 HG02723.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03834.hp2 HG06807.hp2 NA18961.hp2 NA18966.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp2 NA19001.hp2 NA19010.hp2 NA19030.hp1 NA19065.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0004 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0023 a0001c0009t0013 a0002c0003t0001 a0003c0004t0006 a0005c0006t0001	a0001c0001t0002g0090 a0001c0001t0002g0156 a0001c0001t0002g0209 others(32): Show a0001c0001t0002g0090 a0001c0001t0002g0156 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0004g0234 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0296 a0001c0001t0007g0037 a0001c0001t0007g0049 a0001c0001t0016g0059 a0001c0001t0018g0389 a0001c0001t0020g0029 a0001c0002t0003g0031 a0001c0002t0003g0048 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0069 a0001c0002t0003g0085 a0001c0002t0005g0150 a0001c0002t0005g0217 a0001c0002t0006g0151 a0001c0002t0006g0213 a0001c0002t0011g0276 a0001c0002t0012g0019 a0001c0002t0012g0027 a0001c0002t0023g0277 a0001c0009t0013g0113 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0360 a0003c0004t0006g0223 a0003c0004t0006g0225 a0003c0004t0006g0226 a0005c0006t0001g0007	36	109	0.3303	16	c.-18 others(37): Show c.-188+12236_-188+12251dupCTTCCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18980.hp2 NA19085.hp2 HG04199.hp1 NA18980.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0009 a0001c0001t0007 a0001c0002t0009	a0001c0001t0007g0036 a0001c0001t0007g0062 a0001c0002t0009g0124 a0001c0001t0007g0036 a0001c0001t0007g0062 a0001c0002t0009g0124	3	123	0.0244	16	c.-18 others(37): Show c.-188+11729_-188+11730insAAAAAAAATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AAAS_chr12_53302460_53326610	53318223	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	166	0.0060	16	c.251 others(33): Show c.251+2326_251+2341dupACACACACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(9): Show GAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00609.hp1 others(44): Show HG00323.hp1 HG00558.hp1 HG00609.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG04228.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18970.hp2 NA18978.hp1 NA18997.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19059.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0002c0002t0001	a0001c0001t0001g0123 a0001c0001t0002g0015 a0001c0001t0002g0133 others(31): Show a0001c0001t0001g0123 a0001c0001t0002g0015 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0051 a0001c0001t0003g0142 a0001c0001t0004g0006 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0079 a0001c0001t0004g0129 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0057 a0001c0001t0005g0070 a0001c0001t0005g0073 a0001c0001t0005g0098 a0001c0001t0005g0122 a0001c0001t0006g0009 a0001c0001t0006g0032 a0001c0001t0006g0069 a0001c0001t0007g0011 a0001c0001t0007g0081 a0001c0001t0008g0076 a0001c0001t0014g0125 a0001c0001t0021g0074 a0001c0001t0022g0016 a0002c0002t0001g0055	47	140	0.3357	16	c.-20 others(27): Show c.-2098_-2097insAGATAGATAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL2_chr3_151728927_151766339	151761204	G G	GATATATA others(9): Show GATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18971.hp2 NA19002.hp2 others(1): Show NA18942.hp2 NA18971.hp2 NA19002.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0052 a0001c0001t0004g0129 a0002c0002t0001g0003 others(1): Show a0001c0001t0004g0052 a0001c0001t0004g0129 a0002c0002t0001g0003 a0002c0002t0001g0005	4	72	0.0556	16	c.36 others(27): Show c.3633_*3648dupATATATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3649	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCATCC others(9): Show ATCCATCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02280.hp1 others(3): Show HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02895.hp1 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0001t0002g0052 a0001c0002t0001g0226 a0001c0002t0001g0227 others(3): Show a0001c0001t0002g0052 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0003t0001g0053	6	179	0.0335	16	c.169 others(33): Show c.169-2774_169-2773insATCCTTCCTTCCTTCC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCTTCC others(9): Show ATCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG01255.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	175	0.0114	16	c.169 others(33): Show c.169-2747_169-2732dupCCTTCCTTCCTTCCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648388	C C	CCTTCCTT others(9): Show CCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp2 HG02145.hp1 others(7): Show HG00323.hp2 HG01884.hp2 HG02145.hp1 HG02451.hp2 HG02630.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp2 HG03492.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(7): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0011g0030	10	292	0.0342	16	c.169 others(33): Show c.169-2732_169-2731insCCTTCCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658052	C C	CCTTTCTT others(9): Show CCTTTCTTTTTCTCTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	308	0.0032	16	c.386 others(33): Show c.386-3736_386-3735insTCTTTTTCTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658108	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 HG02735.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0258 a0001c0001t0001g0202 a0001c0001t0001g0258	2	145	0.0138	16	c.386 others(33): Show c.386-3664_386-3649dupCCTTCCTTCCTTCCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAC_chr3_151809116_151833488	151831382	T T	TATACACA others(9): Show TATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	20	0.0500	16	c.32 others(27): Show c.3210_*3211insATACACACACACACAC	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding		2895		chr3	TogoVar
AADAT_chr4_170055222_170094956	170056457	T T	TATATATA others(9): Show TATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	271	0.0037	16	c.44 others(27): Show c.4470_*4471insGTGTATATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3764		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(9): Show GCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18980.hp1 HG03471.hp1 NA18980.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0003 a0003c0005t0004 a0002c0002t0003 a0003c0005t0004	a0002c0002t0003g0172 a0003c0005t0004g0311 a0002c0002t0003g0172 a0003c0005t0004g0311	2	245	0.0082	16	c.535 others(33): Show c.535+9571_535+9572insTGTGTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCAC others(9): Show GCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	244	0.0041	16	c.535 others(33): Show c.535+9571_535+9572insTGTGTGTGTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGTGC others(9): Show GCGCGTGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	244	0.0041	16	c.535 others(33): Show c.535+9571_535+9572insTGCGCGCGCGCACGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18939.hp1 NA18942.hp1 others(2): Show HG01081.hp1 NA18939.hp1 NA18942.hp1 NA18960.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0170 a0002c0002t0003g0176 others(2): Show a0002c0002t0003g0154 a0002c0002t0003g0170 a0002c0002t0003g0176 a0002c0002t0003g0190 a0002c0002t0003g0203	5	275	0.0182	16	c.535 others(33): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	7	0.1429	16	c.74- others(31): Show c.74-4236_74-4221dupGTGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	26	0.0385	16	c.73+ others(31): Show c.73+1298_73+1299insCCCCCCCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488149	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02622.hp1 HG02717.hp2 others(3): Show HG01975.hp1 HG02622.hp1 HG02717.hp2 HG02896.hp2 HG03471.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0012 a0001c0001 a0002c0005 a0004c0012	a0001c0001t0007 a0001c0001t0059 a0001c0001t0132 others(3): Show a0001c0001t0007 a0001c0001t0059 a0001c0001t0132 a0002c0005t0018 a0002c0005t0095 a0004c0012t0032	a0001c0001t0007g0206 a0001c0001t0059g0288 a0001c0001t0132g0245 others(3): Show a0001c0001t0007g0206 a0001c0001t0059g0288 a0001c0001t0132g0245 a0002c0005t0018g0104 a0002c0005t0095g0163 a0004c0012t0032g0283	6	100	0.0600	16	c.236 others(35): Show c.2366-5353_2366-5338dupACACACACACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69490923	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0288 a0001c0001t0059g0288	1	125	0.0080	16	c.236 others(35): Show c.2365+5046_2365+5061dupTGTGTGTGTGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18955.hp1 NA19090.hp1 NA18747.hp2 NA18955.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0011 a0002c0002t0003 a0002c0002t0011	a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0011g0113 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0011g0113	3	72	0.0417	16	c.236 others(35): Show c.2365+2811_2365+2826dupTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATACA others(9): Show AATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0069 a0001c0004t0063g0069	1	177	0.0056	16	c.227 others(35): Show c.2270-4585_2270-4584insATATATATATGTATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19084.hp2 NA19068.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0004 a0001c0001t0014 a0002c0002t0004	a0001c0001t0014g0267 a0002c0002t0004g0238 a0001c0001t0014g0267 a0002c0002t0004g0238	2	178	0.0112	16	c.227 others(35): Show c.2270-4600_2270-4585dupATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(9): Show TATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0117 a0002c0005t0117	a0002c0005t0117g0182 a0002c0005t0117g0182	1	96	0.0104	16	c.227 others(35): Show c.2270-4619_2270-4618insGTGTGTGTGTATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0243 a0002c0002t0004g0243	1	96	0.0104	16	c.227 others(35): Show c.2270-4619_2270-4618insGTGTGTGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0252 a0002c0002t0031g0252	1	96	0.0104	16	c.227 others(35): Show c.2270-4619_2270-4618insGTGTATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp2 HG02602.hp2 others(5): Show HG01934.hp1 HG01975.hp2 HG02602.hp2 HG03669.hp1 NA18950.hp1 NA18954.hp1 NA18983.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 others(2): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0015 a0002c0002t0122	a0002c0002t0003g0019 a0002c0002t0003g0037 a0002c0002t0004g0210 others(5): Show a0002c0002t0003g0019 a0002c0002t0003g0037 a0002c0002t0004g0210 a0002c0002t0004g0242 a0002c0002t0006g0232 a0002c0002t0006g0239 a0002c0002t0015g0002 a0002c0002t0122g0247	8	103	0.0777	16	c.227 others(35): Show c.2270-4619_2270-4618insGTATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG00741.hp2 others(47): Show HG00544.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03195.hp1 HG03486.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18955.hp2 NA18961.hp1 NA18966.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0001g0100 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0002c0004t0001g0030	50	53	0.9434	16	c.132 others(33): Show c.132+9598_132+9613dupAAAAAAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77852239	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	380	0.0026	16	c.132 others(33): Show c.132+9613_132+9614insAAAAAAAAAAAAAGAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AARS1_chr16_70247298_70294506	70249014	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG03579.hp2 HG02572.hp2 HG03471.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0345 a0002c0004t0001g0348 a0002c0004t0001g0352 a0002c0004t0001g0345 a0002c0004t0001g0348 a0002c0004t0001g0352	3	228	0.0132	16	c.36 others(27): Show c.3691_*3706dupTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		3283		chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01433.hp2 others(12): Show HG00423.hp1 HG00558.hp1 HG01433.hp2 HG01516.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02451.hp2 HG03098.hp2 HG03139.hp2 HG03516.hp2 NA18970.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0002c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0002g0177 a0001c0002t0003g0321 a0001c0002t0003g0322 a0002c0004t0001g0333 a0002c0004t0001g0343 a0002c0004t0001g0346 a0002c0004t0001g0351	15	108	0.1389	16	c.480 others(31): Show c.480-933_480-918dupGTGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02976.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0015 a0001c0010t0001g0281 a0001c0001t0001g0015 a0001c0010t0001g0281	3	123	0.0244	16	c.351 others(31): Show c.351+812_351+827dupTGTGTGTGTGTGTGTG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(9): Show TCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(33): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01993.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02735.hp2 HG02897.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18955.hp1 NA18961.hp2 NA18989.hp1 NA19005.hp1 NA19066.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0008c0012	a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 others(1): Show a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0008c0012t0001	a0002c0002t0001g0215 a0002c0002t0001g0216 a0003c0003t0002g0010 others(29): Show a0002c0002t0001g0215 a0002c0002t0001g0216 a0003c0003t0002g0010 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0052 a0003c0003t0002g0238 a0003c0003t0002g0243 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0257 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0262 a0003c0003t0002g0287 a0003c0003t0002g0288 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0152 a0004c0004t0001g0155 a0004c0004t0001g0156 a0008c0012t0001g0153 a0008c0012t0001g0154	36	156	0.2308	16	c.351 others(31): Show c.351+827_351+828insTGTGTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCTCAC others(9): Show TCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0034 a0005c0007t0003g0034	1	121	0.0083	16	c.351 others(31): Show c.351+827_351+828insTGTGTGTGTGTGAGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122135862	T T	TTTTATAT others(9): Show TTTTATATACAGGTTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(274): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0014 others(9): Show a0001c0001 a0001c0003 a0001c0014 a0002c0002 a0003c0004 a0004c0005 a0005c0010 a0006c0008 a0008c0007 a0009c0011 a0010c0012 a0011c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0003t0010 a0001c0014t0032 a0002c0002t0001 a0003c0004t0001 a0004c0005t0008 a0005c0010t0007 a0006c0008t0004 a0008c0007t0003 a0009c0011t0011 a0010c0012t0003 a0011c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(231): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0183 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0310 a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0124 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0171 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0004g0025 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0320 a0001c0001t0005g0044 a0001c0001t0005g0080 a0001c0001t0005g0105 a0001c0001t0005g0112 a0001c0001t0006g0012 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0085 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0008g0155 a0001c0001t0009g0020 a0001c0001t0009g0098 a0001c0001t0011g0056 a0001c0001t0012g0050 a0001c0001t0012g0051 a0001c0001t0013g0076 a0001c0001t0014g0277 a0001c0001t0015g0074 a0001c0001t0016g0316 a0001c0001t0017g0300 a0001c0001t0018g0292 a0001c0001t0020g0125 a0001c0001t0021g0103 a0001c0001t0022g0123 a0001c0001t0029g0175 a0001c0001t0030g0162 a0001c0001t0031g0260 a0001c0001t0033g0066 a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065 a0001c0014t0032g0142 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0003c0004t0001g0129 a0003c0004t0001g0136 a0003c0004t0001g0139 a0004c0005t0008g0011 a0005c0010t0007g0143 a0006c0008t0004g0164 a0008c0007t0003g0285 a0009c0011t0011g0049 a0010c0012t0003g0294 a0011c0013t0001g0058	277	382	0.7251	16	c.-15 others(33): Show c.-15-2137_-15-2122dupTGAACCTGTATATAAA	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(28): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01069.hp1 HG01167.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp2 HG02148.hp1 HG02165.hp2 HG02451.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 NA18939.hp1 NA18957.hp1 NA18974.hp1 NA18975.hp1 NA18986.hp1 NA18994.hp1 NA19005.hp1 NA19043.hp1 NA19062.hp2 NA19064.hp2 NA19070.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0014 a0005c0010 others(1): Show a0001c0001 a0001c0014 a0005c0010 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0014t0032 a0005c0010t0007 a0006c0008t0004	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(24): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0033 a0001c0001t0003g0150 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0041 a0001c0001t0004g0153 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0176 a0001c0001t0011g0056 a0001c0001t0012g0050 a0001c0001t0012g0051 a0001c0014t0032g0142 a0005c0010t0007g0143 a0006c0008t0004g0164	31	123	0.2520	16	c.-16 others(33): Show c.-16+3660_-16+3675dupTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03491.hp1 NA18983.hp1 others(3): Show HG02055.hp1 HG03491.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0090 a0001c0001t0001g0160 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0090 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0002g0157 a0001c0002t0002g0141 a0001c0002t0002g0241	6	121	0.0496	16	c.139 others(37): Show c.1398+10551_1398+10552insGAGGAAGGAAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(9): Show GAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	116	0.0086	16	c.139 others(37): Show c.1398+10551_1398+10552insGAGGGAGGAAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(9): Show GAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	116	0.0086	16	c.139 others(37): Show c.1398+10551_1398+10552insGAGGGAGGGAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37058147	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0094 a0003c0007t0001g0094	1	157	0.0064	16	c.14 others(27): Show c.1483_*1484insTATTTATTTATTTATT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding		1277		chr17	TogoVar
AATF_chr17_36943954_37061871	37059836	G G	GGAGTGCA others(9): Show GGAGTGCAGAACTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	244	0.0041	16	c.31 others(27): Show c.3172_*3173insGAGTGCAGAACTGAGT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding		2966		chr17	TogoVar

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