Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
ATAT1_chr6_30621874_30651821	30650708	GGGAGGCG others(122): Show GGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCTCTGCACTCCAGCCT GGGCGACAGAGCTAGACTCCATCTCAAGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02630.hp1 others(2): Show HG01243.hp2 HG02258.hp2 HG02630.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0021 a0001c0001t0001g0091 a0001c0001t0001g0092	5	405	0.0124	-129	c.40 others(11): Show c.4066_*4194del	ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding		3888		chr6	TogoVar
ATP11A_chr13_112685038_112892168	112755692	GGTCACGG others(122): Show GGTCACGGAACCATCACTCAGAGCGGCTCCCAGAACCATTTCCGGTCACG GAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCGGTCACGGAAGCGG CACTCAGAGCGGCTCCCAGAACCATTTCCC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0218 a0001c0009t0003g0218	1	254	0.0039	-129	c.40- others(17): Show c.40-29433_40-29305del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112755778	GGTCACGG others(122): Show GGTCACGGAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCCGTCACG GAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCGGTCACGGAAGCGG CACTCAGAGCGGCTCCCAGAACCATTTCCC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00642.hp1 others(57): Show HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG01891.hp2 HG02109.hp1 HG02148.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18971.hp1 NA19002.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(22): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0029 a0001c0042 a0001c0044 a0001c0046 a0002c0003 a0002c0010 a0002c0048 a0003c0008 a0003c0012 a0004c0027 a0005c0018 a0010c0037 a0011c0041 a0012c0043 a0013c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0060 a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0032 a0001c0004t0003 a0001c0004t0006 a0001c0004t0042 a0001c0004t0050 a0001c0005t0020 a0001c0006t0001 a0001c0006t0004 a0001c0009t0075 a0001c0017t0058 a0001c0017t0076 a0001c0019t0008 a0001c0019t0015 a0001c0020t0068 a0001c0021t0024 a0001c0029t0051 a0001c0042t0044 a0001c0044t0045 a0001c0046t0016 a0002c0003t0001 a0002c0003t0002 a0002c0010t0022 a0002c0048t0008 a0003c0008t0001 a0003c0012t0005 a0004c0027t0074 a0005c0018t0001 a0010c0037t0001 a0011c0041t0001 a0012c0043t0001 a0013c0033t0001	a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 others(57): Show a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0001t0060g0138 a0001c0002t0001g0032 a0001c0002t0001g0167 a0001c0002t0008g0066 a0001c0002t0013g0111 a0001c0002t0013g0211 a0001c0002t0014g0197 a0001c0002t0015g0054 a0001c0002t0032g0179 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0149 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0006g0058 a0001c0004t0006g0061 a0001c0004t0042g0057 a0001c0004t0050g0033 a0001c0005t0020g0144 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0009t0075g0153 a0001c0017t0058g0053 a0001c0017t0076g0154 a0001c0019t0008g0051 a0001c0019t0015g0147 a0001c0020t0068g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0029t0051g0046 a0001c0042t0044g0148 a0001c0044t0045g0133 a0001c0046t0016g0062 a0002c0003t0001g0059 a0002c0003t0002g0027 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0010t0022g0072 a0002c0048t0008g0165 a0003c0008t0001g0170 a0003c0012t0005g0207 a0004c0027t0074g0155 a0005c0018t0001g0009 a0005c0018t0001g0168 a0010c0037t0001g0076 a0011c0041t0001g0169 a0012c0043t0001g0069 a0013c0033t0001g0166	60	254	0.2362	-129	c.40- others(17): Show c.40-29314_40-29186del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP5ME_chr4_667436_679276	668633	CCCGCTAC others(122): Show CCCGCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCAT GCTATTCCCGCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTA TGCCATGCTATTCCCCTACCCCATGCTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	394	0.0051	-129	c.37 others(11): Show c.3738_*3866del	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3802		chr4	TogoVar
ATP5ME_chr4_667436_679276	668636	GCTACCCC others(122): Show GCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCT ATTCCCGCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTATGC CATGCTATTCCCCTACCCCATGCTATTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(56): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0025	59	394	0.1498	-129	c.37 others(11): Show c.3735_*3863del	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3799		chr4	TogoVar
B3GNTL1_chr17_82937149_83056770	83003302	CTCCGCAG others(122): Show CTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCACTCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	266	0.0038	-129	c.459 others(17): Show c.459+1684_459+1812del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004461	CACTCTCT others(122): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTC CGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGT GGGATTCCTGAGCTCGCCCTCCCACTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 NA20300.hp1 HG01891.hp2 HG02451.hp2 NA20300.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0012 a0001c0011t0011 a0001c0011t0012	a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142	3	266	0.0113	-129	c.459 others(15): Show c.459+525_459+653del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467332	AGTGATGG others(122): Show AGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGA TGGTACTGGTGGTGATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTG GTAGTGATGGTGGTGGTAATGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03834.hp1 HG01123.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0023 a0001c0002t0024g0238 a0001c0002t0001g0023 a0001c0002t0024g0238	2	262	0.0076	-129	c.487 others(17): Show c.487+1271_487+1399del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BRDT_chr1_91944401_92019421	91962192	ATCCAAGG others(122): Show ATCCAAGGCTAAGGCATATATAGTGAAACTTTTACTATTTGTATATAAAA AATTTGTATTTGTTTAAAAATTGATTCCTTTGCCATTTGGCTTTTTTTTT TTTTCATCCTGTCTTAATCATGATGTGCTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0121 a0004c0004t0002g0121	1	318	0.0031	-129	c.-37 others(15): Show c.-37-524_-37-396del	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
C10orf67_chr10_23197696_23349797	23346563	AGAAAAAC others(122): Show AGAAAAACACGCAGCACATGCATGAGGCAACTGCAAGAGAAATACCAACT AGGCCTTTGAAGGACTCTATTCCTTCTTCCTAAACCACTACTAGGGAAAA CATTGTTTAAAGATGTCAGTGTTTTGGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(238): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 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 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0013 a0002c0004 a0003c0005 a0004c0011 a0006c0012 a0007c0009 a0008c0007 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0003t0003 a0001c0008t0001 a0001c0013t0001 a0002c0004t0002 a0003c0005t0002 a0004c0011t0001 a0006c0012t0004 a0007c0009t0001 a0008c0007t0001 a0009c0010t0003	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(238): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0002g0088 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0273 a0001c0001t0002g0306 a0001c0001t0002g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0182 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0007g0161 a0001c0001t0007g0168 a0001c0001t0008g0325 a0001c0001t0008g0326 a0001c0001t0010g0185 a0001c0001t0011g0118 a0001c0001t0013g0285 a0001c0002t0001g0065 a0001c0002t0001g0070 a0001c0002t0001g0078 a0001c0003t0003g0226 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0239 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0253 a0001c0003t0003g0258 a0001c0008t0001g0156 a0001c0013t0001g0131 a0002c0004t0002g0188 a0002c0004t0002g0189 a0002c0004t0002g0190 a0002c0004t0002g0191 a0002c0004t0002g0192 a0002c0004t0002g0193 a0002c0004t0002g0194 a0002c0004t0002g0195 a0002c0004t0002g0219 a0002c0004t0002g0221 a0003c0005t0002g0223 a0003c0005t0002g0224 a0003c0005t0002g0225 a0004c0011t0001g0305 a0006c0012t0004g0174 a0007c0009t0001g0262 a0008c0007t0001g0115 a0009c0010t0003g0236	241	326	0.7393	-129	c.-19 others(11): Show c.-1918_-1790del	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding		1767		chr10	TogoVar
C6orf136_chr6_30642133_30658207	30650708	GGGAGGCG others(122): Show GGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCTCTGCACTCCAGCCT GGGCGACAGAGCTAGACTCCATCTCAAGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02630.hp1 others(2): Show HG01243.hp1 HG02258.hp2 HG02630.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0047 a0001c0001t0001g0029 a0001c0001t0002g0047	5	409	0.0122	-129	c.101 others(17): Show c.1018-263_1018-135del	C6orf136	ENSG00000204564.12	transcript	ENST00000651131.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7orf50_chr7_992006_1143247	1038676	CTGGCCAG others(122): Show CTGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCC CGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCG	C C	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	326	0.0031	-129	c.130 others(19): Show c.130-28662_130-28534del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1039424	GTCAGCCC others(122): Show GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0128 a0001c0001t0009g0128	1	326	0.0031	-129	c.130 others(19): Show c.130-29410_130-29282del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318484	GGGAAAGG others(122): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	324	0.0031	-129	c.835 others(17): Show c.835-7620_835-7492del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49318496	GGGAAAGG others(122): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02273.hp1 HG03516.hp1 others(3): Show HG00408.hp2 HG02273.hp1 HG03516.hp1 NA18983.hp1 NA19005.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0015 a0001c0002t0002 a0001c0001t0005 a0001c0001t0015 a0001c0002t0002	a0001c0001t0005g0003 a0001c0001t0005g0183 a0001c0001t0015g0270 others(3): Show a0001c0001t0005g0003 a0001c0001t0005g0183 a0001c0001t0015g0270 a0001c0002t0002g0069 a0001c0002t0002g0092 a0001c0002t0002g0248	6	324	0.0185	-129	c.835 others(17): Show c.835-7632_835-7504del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49378730	CGCCCGGC others(122): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG02015.hp2 others(6): Show HG00323.hp1 HG01175.hp2 HG02015.hp2 NA18612.hp1 NA18747.hp2 NA18959.hp2 NA18970.hp1 NA19065.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0130 others(6): Show a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0130 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307	9	324	0.0278	-129	c.112 others(17): Show c.112-1728_112-1600del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	4/10			chr13	TogoVar
CANT1_chr17_78986716_79014764	79004627	GGGGAGTT others(122): Show GGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTA GGGAGGGGGGAGTTAGGGAGATGGGAGTTAGGGAGAGGGGGGTTAGGGAG AGGGGAGTTAGGGAGGGGAGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	394	0.0025	-129	c.-14 others(19): Show c.-147+4908_-147+5036del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCDC102B_chr18_68793080_69060189	68956421	TATATTAT others(122): Show TATATTATACATTTTATATATATTATATATATTATATATTTTATATATAT ATTATATATATATAATATATATATAAAATATATAATATATATATCGCATA TTATATATATTATATATTTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	216	0.0046	-129	c.126 others(21): Show c.1264-54504_1264-54376del	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC170_chr6_151489017_151626193	151499475	TGTATTTG others(122): Show TGTATTTGACTATTCTAGGCACTCTGTATAAGTGGAATCAGACTGTATTT GACTATTCTAGGCATGCTGTATAAGTGGAATCATACTGTATTTGACTATT CTAGGCACGCTGTATAAGTGGAATCAGACC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG03041.hp2 others(8): Show HG02572.hp1 HG02886.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0005 a0002c0002 a0002c0003 others(3): Show a0001c0005 a0002c0002 a0002c0003 a0006c0010 a0006c0030 a0011c0016	a0001c0005t0065 a0002c0002t0014 a0002c0002t0024 others(6): Show a0001c0005t0065 a0002c0002t0014 a0002c0002t0024 a0002c0003t0004 a0002c0003t0006 a0002c0003t0023 a0006c0010t0006 a0006c0030t0061 a0011c0016t0024	a0001c0005t0065g0212 a0002c0002t0014g0215 a0002c0002t0024g0213 others(8): Show a0001c0005t0065g0212 a0002c0002t0014g0215 a0002c0002t0024g0213 a0002c0003t0004g0217 a0002c0003t0004g0218 a0002c0003t0004g0219 a0002c0003t0006g0211 a0002c0003t0023g0220 a0006c0010t0006g0221 a0006c0030t0061g0216 a0011c0016t0024g0214	11	320	0.0344	-129	c.57+ others(15): Show c.57+5304_57+5432del	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP251_chr12_121913592_122008919	121994091	GGCCCCTA others(122): Show GGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0064 a0001c0006t0001g0064	1	354	0.0028	-129	c.300 others(19): Show c.3007-5556_3007-5428del	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP46_chr10_132803392_132947570	132888450	TCACCCCT others(122): Show TCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGTACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTT CACCCCTGCCGCCTGCACCCCTGCCGCCTG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02886.hp1 HG00733.hp2 HG02886.hp1	a0031 a0052 a0031 a0052	a0031c0101 a0052c0037 a0031c0101 a0052c0037	a0031c0101t0002 a0052c0037t0001 a0031c0101t0002 a0052c0037t0001	a0031c0101t0002g0022 a0052c0037t0001g0230 a0031c0101t0002g0022 a0052c0037t0001g0230	2	246	0.0081	-129	c.330 others(19): Show c.3305-2620_3305-2492del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHSY1_chr15_101170727_101257048	101214617	TGGTGGGA others(122): Show TGGTGGGAGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATAGGTGGG AGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATAGGTGGGAGGTGGC TGGATCATGGAGGTGGATTTCTCATGCATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00639.hp1 others(89): Show HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18968.hp2 NA18974.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19068.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0019 a0001c0023 a0001c0025 a0001c0031 a0001c0032 a0002c0002 a0005c0010 a0005c0012 a0009c0030	a0001c0001t0008 a0001c0001t0017 a0001c0001t0030 others(29): Show a0001c0001t0008 a0001c0001t0017 a0001c0001t0030 a0001c0001t0062 a0001c0001t0063 a0001c0003t0004 a0001c0004t0003 a0001c0004t0014 a0001c0004t0019 a0001c0004t0036 a0001c0004t0037 a0001c0004t0052 a0001c0005t0001 a0001c0005t0011 a0001c0005t0022 a0001c0005t0042 a0001c0005t0043 a0001c0009t0003 a0001c0009t0066 a0001c0013t0009 a0001c0013t0021 a0001c0013t0023 a0001c0019t0008 a0001c0023t0017 a0001c0025t0017 a0001c0031t0019 a0001c0032t0003 a0002c0002t0002 a0005c0010t0001 a0005c0010t0055 a0005c0012t0003 a0009c0030t0003	a0001c0001t0008g0222 a0001c0001t0017g0369 a0001c0001t0017g0371 others(85): Show a0001c0001t0008g0222 a0001c0001t0017g0369 a0001c0001t0017g0371 a0001c0001t0030g0365 a0001c0001t0030g0366 a0001c0001t0062g0370 a0001c0001t0063g0374 a0001c0003t0004g0062 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0247 a0001c0004t0003g0248 a0001c0004t0003g0249 a0001c0004t0003g0251 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0258 a0001c0004t0003g0259 a0001c0004t0003g0260 a0001c0004t0003g0261 a0001c0004t0003g0262 a0001c0004t0003g0264 a0001c0004t0003g0265 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0272 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0276 a0001c0004t0003g0278 a0001c0004t0003g0280 a0001c0004t0003g0281 a0001c0004t0003g0282 a0001c0004t0003g0283 a0001c0004t0003g0286 a0001c0004t0003g0287 a0001c0004t0003g0289 a0001c0004t0014g0309 a0001c0004t0014g0310 a0001c0004t0014g0311 a0001c0004t0014g0312 a0001c0004t0019g0273 a0001c0004t0036g0027 a0001c0004t0037g0028 a0001c0004t0052g0300 a0001c0005t0001g0200 a0001c0005t0011g0326 a0001c0005t0011g0327 a0001c0005t0011g0328 a0001c0005t0011g0329 a0001c0005t0022g0005 a0001c0005t0042g0056 a0001c0005t0043g0061 a0001c0009t0003g0226 a0001c0009t0003g0227 a0001c0009t0003g0228 a0001c0009t0003g0229 a0001c0009t0003g0230 a0001c0009t0003g0231 a0001c0009t0003g0232 a0001c0009t0066g0393 a0001c0013t0009g0301 a0001c0013t0009g0302 a0001c0013t0021g0313 a0001c0013t0023g0029 a0001c0013t0023g0030 a0001c0019t0008g0075 a0001c0019t0008g0076 a0001c0023t0017g0373 a0001c0025t0017g0372 a0001c0031t0019g0279 a0001c0032t0003g0290 a0002c0002t0002g0101 a0005c0010t0001g0094 a0005c0010t0001g0151 a0005c0010t0001g0152 a0005c0010t0001g0183 a0005c0010t0055g0321 a0005c0012t0003g0022 a0005c0012t0003g0246 a0005c0012t0003g0250 a0005c0012t0003g0266 a0005c0012t0003g0267 a0009c0030t0003g0277	92	422	0.2180	-129	c.816 others(19): Show c.816+20336_816+20464del	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
COL18A1_chr21_45400165_45518720	45501672	CCTCTGCA others(122): Show CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03017.hp1 HG01261.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0089 a0001c0001 a0001c0089	a0001c0001t0001 a0001c0089t0001 a0001c0001t0001 a0001c0089t0001	a0001c0001t0001g0150 a0001c0089t0001g0119 a0001c0001t0001g0150 a0001c0089t0001g0119	2	292	0.0069	-129	c.268 others(19): Show c.2684-2270_2684-2142del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501744	CAGCCGGT others(122): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(27): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG01070.hp1 HG01243.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01978.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02683.hp2 HG02698.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 NA18944.hp2 NA18945.hp2 NA18966.hp1 NA18990.hp1 NA18998.hp1 NA19005.hp1 NA19064.hp1 NA19065.hp1 NA19091.hp1	a0001 a0004 a0027 a0001 a0004 a0027	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0024 a0001c0029 a0001c0061 a0001c0062 a0001c0064 a0004c0031 a0027c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 a0001c0008t0002 a0001c0024t0001 a0001c0029t0003 a0001c0061t0001 a0001c0062t0002 a0001c0064t0001 a0004c0031t0002 a0027c0043t0002	a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0125 others(27): Show a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0002g0278 a0001c0001t0013g0276 a0001c0002t0001g0024 a0001c0002t0001g0095 a0001c0002t0002g0060 a0001c0002t0002g0094 a0001c0002t0002g0105 a0001c0002t0002g0178 a0001c0002t0002g0188 a0001c0002t0002g0231 a0001c0002t0002g0238 a0001c0003t0001g0289 a0001c0005t0002g0070 a0001c0005t0002g0158 a0001c0008t0002g0272 a0001c0024t0001g0229 a0001c0024t0001g0256 a0001c0029t0003g0226 a0001c0029t0003g0227 a0001c0061t0001g0257 a0001c0062t0002g0097 a0001c0064t0001g0061 a0004c0031t0002g0123 a0027c0043t0002g0015	30	292	0.1027	-129	c.268 others(19): Show c.2684-2210_2684-2082del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501801	TCTCTGCA others(122): Show TCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	292	0.0034	-129	c.268 others(19): Show c.2684-2193_2684-2065del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587913	CCGTGTCA others(122): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCACAGATACACGGCCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19010.hp1 NA19012.hp2 HG00423.hp1 NA19010.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0199 a0001c0002t0002g0201 a0002c0003t0002g0312 a0001c0002t0002g0199 a0001c0002t0002g0201 a0002c0003t0002g0312	3	348	0.0086	-129	c.928 others(15): Show c.928-751_928-623del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	3350123	CAATACCT others(122): Show CAATACCTATAATAACCTATAATAACTTGTGTATGTGTGTGTTATAATAC CTATAATAACCTATAACTTGTGTATGTGTGTGTTATAATACCTATAATAA CCTATAATAACTTGTGTATGTGTGTGTTAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03669.hp2 HG02683.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0039 a0001c0021t0005 a0001c0001t0039 a0001c0021t0005	a0001c0001t0039g0017 a0001c0021t0005g0012 a0001c0001t0039g0017 a0001c0021t0005g0012	2	126	0.0159	-129	c.330 others(19): Show c.3305-2091_3305-1963del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar
CUX1_chr7_101811007_102288958	102158961	CGGAGAGT others(122): Show CGGAGAGTTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAG TTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAGTTCCTTA GTGTAGACATCTCACCACGGTGTTATCCTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	132	0.0076	-129	c.756 others(15): Show c.756+439_756+567del	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102158961	CGGAGAGT others(122): Show CGGAGAGTTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAG TTCCTTAGTGTAGACATCTCACCACGGTGTTATCCTAGGAGAGTTCCTTA GTGTAGACATCTCACCACGGTGTTATCCTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0027 a0001c0001t0049g0027	1	136	0.0074	-129	c.723 others(15): Show c.723+439_723+567del	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
DGKB_chr7_14140049_14907751	14211511	TTTTACTC others(122): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0042 a0001c0002t0003 a0001c0002t0042	a0001c0002t0003g0003 a0001c0002t0042g0148 a0001c0002t0003g0003 a0001c0002t0042g0148	2	148	0.0135	-129	c.212 others(21): Show c.2123-33489_2123-33361del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775315	CCTACATG others(122): Show CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	420	0.0024	-129	c.364 others(17): Show c.364-1410_364-1282del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2296526	AATAGGAC others(122): Show AATAGGACCCAGGCAGATAGACCCCAGGCAGATAGGAATAGGACCCAGGC AGATAGGAATAGGACCCAGGCAGATAGACCCCAGGCAGATAGGAATAGGA CCCAGGCAGATAGGAATAGGACCCAGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0015 a0004c0004 a0010c0015	a0004c0004t0009 a0010c0015t0007 a0004c0004t0009 a0010c0015t0007	a0004c0004t0009g0032 a0010c0015t0007g0036 a0004c0004t0009g0032 a0010c0015t0007g0036	2	50	0.0400	-129	c.287 others(17): Show c.287-5052_287-4924del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX16_chr6_30648127_30678006	30650708	GGGAGGCG others(122): Show GGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCTCTGCACTCCAGCCT GGGCGACAGAGCTAGACTCCATCTCAAGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02630.hp1 others(2): Show HG01243.hp2 HG02258.hp2 HG02630.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0147 a0001c0001t0001g0014 a0001c0001t0001g0147	5	383	0.0131	-129	c.24 others(11): Show c.2405_*2533del	DHX16	ENSG00000204560.10	transcript	ENST00000376442.8	protein_coding		2418		chr6	TogoVar
DLC1_chr8_13078361_13519851	13453423	TGTGTATA others(122): Show TGTGTATATATATATGTATATATATACATATATATATGTATATATATACA TATATATGTATATATATACATATATATATGTATATATATATACATATATA TATATGTATATATATACATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0011 a0006c0007t0011	a0006c0007t0011g0038 a0006c0007t0011g0038	1	212	0.0047	-129	c.102 others(21): Show c.1023+45497_1023+45625del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1101724	GACACGAC others(122): Show GACACGACGATGGGAAGCTCCTCGTCACCCCTGAGCCGAACACGACACGA CGATGGGAAGGTCCTCGTCACCCCTGAGCCGAACACGACACGACGATGGG AAGCTCCTCGTCACCCCTGAGCCGAACACA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-129	c.74- others(19): Show c.74-157110_74-156982del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32584887	TAACTTAT others(122): Show TAACTTATGTCCTTTGCTTGATACTTCAATTTAAAAAGTACCATAAAGTT TGCATTTTTTTTTCAGAACCATCAACAGATAAACAGATAACAGGTTATAT ATACATAATGCAATGTTATTTGGCCATAAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	-129	c.160 others(21): Show c.1602+10741_1602+10869del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	735317	AGTTCATG others(122): Show AGTTCATGGTGTAGCTGCTCACGGTGTAGCTGCTCATGGTGTCGTTGCTC ATATTGTAGTTGCTCATATTGCTCATGGTGTTGTTCTTCATGGTGTAGCT GCTTACAACGTCGCTGCTCACGGTGTAGTT	A A	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	378	0.0027	-129	c.781 others(17): Show c.781-5482_781-5354del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC25_chr9_111626334_111659345	111641708	ACCCCGTC others(122): Show ACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18939.hp2 NA18972.hp1 others(7): Show HG00438.hp2 NA18939.hp2 NA18972.hp1 NA18982.hp1 NA18991.hp2 NA19057.hp2 NA19059.hp1 NA19065.hp1 NA19085.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0066 a0001c0001t0001g0067 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0095 a0002c0005t0001g0292	10	412	0.0243	-129	c.337 others(17): Show c.337-5329_337-5201del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENOSF1_chr18_665318_717630	667346	AGATGGTG others(122): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0399 a0003c0004t0001g0399	1	418	0.0024	-129	c.68 others(11): Show c.6830_*6958del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2971		chr18	TogoVar
ENPP6_chr4_184083706_184222873	184219817	AAGGGAAG others(122): Show AAGGGAAGGGAGGGAAAGGAAGGGAAGGGAAAGGGAAAGGGGAAGGGAAG GAGGAAAAAAAGAATAGAAGGGAAGAAGGGAAAGGAAGAGAAAAAGGGAA GAAAAGCGAAGAAGGGAAGGGAAGGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0212 a0002c0001t0022g0212	1	320	0.0031	-129	c.-21 others(11): Show c.-2127_-1999del	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		1945		chr4	TogoVar
EPHA2_chr1_16119337_16161069	16132748	GGGTGTAA others(122): Show GGGTGTAAGGAGGTGGGTACAGGTATCGGGGAGAGGTGGGCACAGGTGTA GAGGAGGTGGGTACAAGTATGGGGAGAGGTGGGCACGGGTGTAAGGAGGT GGGTGCAGGTATGGGGGGAAGGTGGGCACA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	312	0.0064	-129	c.205 others(17): Show c.2053+303_2054-310del	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	11/16			chr1	TogoVar
EPHA2_chr1_16119337_16161069	16132883	AAGGAGGT others(122): Show AAGGAGGTGGGTACAGGTATCGGGGAGAGGTGGGCACAGGTGTAGAGGAG GTGGGTACAAGTATGGGGAGAGGTGGGCACGGGTGTAAGGAGGTGGGTGC AGGTATGGGGGGAAGGTGGGCACAGGTGTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0258 a0001c0004t0001g0258	1	312	0.0032	-129	c.205 others(17): Show c.2053+168_2053+296del	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	11/16			chr1	TogoVar
ERICH1_chr8_659200_736224	714139	CGCATCTC others(122): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18943.hp1 NA19090.hp1 HG01952.hp2 NA18943.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0100 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0100	3	378	0.0079	-129	c.169 others(17): Show c.169+1593_169+1721del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714268	GGCATCTC others(122): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	378	0.0027	-129	c.169 others(17): Show c.169+1464_169+1592del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FAM200C_chr5_160388148_160405054	160392859	TATTTATG others(122): Show TATTTATGATTTATACTCTGACATTTTGAACTTAGAAAAATACATATAAG ATGTAATATAAGTGACAAAATTAGGGTAAAGGAAAAATAAGTATAGGAAA AATTGAACCCAGAGGACCCAAGAATCCAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0067 a0009c0008t0001g0067	1	440	0.0023	-129	c.71 others(9): Show c.718_*846del	FAM200C	ENSG00000221886.4	transcript	ENST00000408953.4	protein_coding		288		chr5	TogoVar
FAM78B_chr1_166064299_166172001	166077844	TATAATAA others(122): Show TATAATAATATATATAATTTATATATATAATTATATATATAATAAATATA TATAATTTATATATATAATTATATATATAATAAATATATAATAATATATA TAATTTATATATATAATTATATATATAATA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0126 a0001c0001t0020g0126	1	318	0.0031	-129	c.264 others(17): Show c.264-7210_264-7082del	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM9B_chrX_9019232_9039127	9022377	TATTATAT others(122): Show TATTATATTATGTATAAGATATAATATATATTATATTATGTATAAGATAT AATATATATTATATTATGTATAAGATATATATTATATTATGTATAAGATA TATATTATATTATGTATAAGATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	258	0.0039	-129	c.29 others(11): Show c.2903_*3031del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1854		chrX	TogoVar
FBLN1_chr22_45497883_45606135	45568528	TCTTCTGT others(122): Show TCTTCTGTAGGGGAATGCTCCTTCTGTAGGGCATGCTCCTTCTGTAGGAG AATGCTCCTGTAGGGGAATGCTCCTTCTGTAAGGGAATGCTCCTCCTGTA AGGGAATGCCTCTTCTGTGGGAGAATGCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(127): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0013 a0001c0016 a0001c0018 a0003c0027 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0004t0001 a0001c0006t0001 a0001c0013t0001 a0001c0016t0001 a0001c0018t0001 a0003c0027t0001 a0008c0017t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 others(127): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0002g0059 a0001c0001t0002g0222 a0001c0001t0002g0270 a0001c0001t0002g0318 a0001c0001t0003g0149 a0001c0001t0003g0209 a0001c0001t0011g0015 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0001g0109 a0001c0002t0001g0129 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0211 a0001c0002t0001g0224 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0290 a0001c0002t0001g0315 a0001c0002t0002g0017 a0001c0002t0002g0304 a0001c0002t0002g0317 a0001c0002t0003g0266 a0001c0002t0010g0260 a0001c0004t0001g0125 a0001c0006t0001g0313 a0001c0013t0001g0070 a0001c0016t0001g0196 a0001c0018t0001g0300 a0003c0027t0001g0005 a0008c0017t0001g0046	130	346	0.3757	-129	c.169 others(19): Show c.1698-5965_1698-5837del	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FOLR1_chr11_72187140_72201299	72201170	ATACACGT others(122): Show ATACACGTATACACGTATACACGTATACGTATGTACACGTATACACGTAT ACGTATGTACACGTATACACGTATACGTATGTACACGTATACACGTATAC GTATGTACACGTATACACGTATACGTATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02129.hp1 HG02155.hp2 others(21): Show HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02486.hp2 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18946.hp1 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA18981.hp2 NA18982.hp1 NA18992.hp1 NA19003.hp1 NA19005.hp1 NA19043.hp1 NA19074.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012	24	412	0.0583	-129	c.49 others(11): Show c.4994_*5122del	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4872		chr11	TogoVar
FOXN3_chr14_89151177_89422233	89361146	ACCACCAC others(122): Show ACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTC CAGCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCT CCAGCACCACCTCCACCACCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	230	0.0044	-129	c.544 others(19): Show c.544-10467_544-10339del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar

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