Joint Open Genome and Omics Platform (JoGo)

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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
TMEM132D_chr12_129066726_129909025	129088014	GGGTGTCC others(97): Show GGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCC TGACC	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	92	0.0109	-104	c.144 others(19): Show c.1444-3416_1444-3313del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM144_chr4_158205486_158260416	158257072	ATTATATA others(97): Show ATTATATATAGTATTATATATTATATATAGTATTATATATATTATATATA GTATTATATATTATATATAGTATTATATATAATATATAGTATTATATATA GTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG01928.hp1 others(3): Show HG00741.hp1 HG01361.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0119 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0154	6	243	0.0247	-104	c.35 others(11): Show c.3546_*3649del	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1657		chr4	TogoVar
TMEM144_chr4_158205486_158260416	158257119	ATAGTATT others(97): Show ATAGTATTATATATTATATATAGTATTATATATAATATATAGTATTATAT ATAGTATTATATATAGTATTATATATATTATATATAGTATTATGTATATA TTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp1 others(44): Show HG00140.hp2 HG00280.hp1 HG00609.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02071.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp1 HG03490.hp1 HG03710.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18987.hp2 NA18992.hp1 NA19001.hp1 NA19005.hp2 NA19011.hp2 NA19062.hp2 NA19066.hp1 NA19087.hp1 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0038 a0001c0001t0045 a0001c0001t0047 a0001c0001t0054 a0001c0001t0066 a0001c0002t0001 a0001c0002t0015 a0001c0002t0068	a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0104 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0001t0001g0207 a0001c0001t0005g0118 a0001c0001t0006g0089 a0001c0001t0013g0041 a0001c0001t0013g0064 a0001c0001t0013g0065 a0001c0001t0015g0020 a0001c0001t0015g0203 a0001c0001t0017g0015 a0001c0001t0017g0040 a0001c0001t0018g0004 a0001c0001t0018g0067 a0001c0001t0018g0097 a0001c0001t0038g0185 a0001c0001t0045g0014 a0001c0001t0047g0096 a0001c0001t0054g0020 a0001c0001t0066g0055 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0098 a0001c0002t0001g0128 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0195 a0001c0002t0015g0009 a0001c0002t0068g0140	47	272	0.1728	-104	c.35 others(11): Show c.3593_*3696del	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1704		chr4	TogoVar
TMEM190_chr19_55371826_55383246	55377283	GGGGCCTG others(97): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAAGGAGGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-104	c.94+ others(13): Show c.94+280_95-184del	TMEM190	ENSG00000160472.5	transcript	ENST00000291934.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM238_chr19_55374244_55389292	55377283	GGGGCCTG others(97): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAAGGAGGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	326	0.0031	-104	c.19 others(11): Show c.1988_*2091del	TMEM238	ENSG00000233493.4	transcript	ENST00000444469.4	protein_coding		1960		chr19	TogoVar
TMEM255A_chrX_120253650_120316461	120296956	TATATAAT others(97): Show TATATAATATATAATATTATATATATTATATATATATTATATATAATATA TAATATTATATATATTATATATATATAATATATAATATATAATATAATAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp1 HG02451.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0079 a0001c0001t0001g0086	2	301	0.0066	-104	c.202 others(17): Show c.202-3009_202-2906del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM63C_chr14_77176798_77264495	77236268	GAGACTGG others(97): Show GAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGATGGGTGGGGGTATGG GGAGACTGTGATGGGTGGGGGTATGGGCAGACTGTGGTGGGTGGGGGGTA TGGGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0274 a0001c0002t0002g0274	1	320	0.0031	-104	c.543 others(15): Show c.543-344_543-241del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TNK2_chr3_195858364_195913551	195880968	GTAACACC others(97): Show GTAACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCC CTCTAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGT CCCTC	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	370	0.0027	-104	c.887 others(16): Show c.887+979_887+1082del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195881431	ACCCGCCC others(97): Show ACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGGATCTGTCCCTCTA ACACCCCCCCCAGCAACGCCCCTTGGAGAGGACACGGCATCTATCCCTGT AACAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0054 a0003c0054	a0003c0054t0001 a0003c0054t0001	a0003c0054t0001g0137 a0003c0054t0001g0137	1	370	0.0027	-104	c.887 others(15): Show c.887+516_887+619del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195881552	CCTTGAAG others(97): Show CCTTGAAGAGGACACAGCATCTATCCCTGTAACACCCCCCCAGCGATGCC CCTTGAAGAGGACACAGCATCTATCCTTGTAACACCCCCCCCCCAGCAAC GCCCT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	370	0.0027	-104	c.887 others(15): Show c.887+395_887+498del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TPR_chr1_186306652_186380253	186327088	ACATATAT others(97): Show ACATATATATTATATATATAAATATATATAAATATATAACATATATATTA TATATATAAATATATATAAATATATAACATATATATTATATATATAAATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03491.hp2 HG03492.hp1 others(2): Show HG02056.hp1 HG03491.hp2 HG03492.hp1 NA18951.hp1 NA19000.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0001 a0007c0010t0001g0268 a0007c0010t0001g0269 others(1): Show a0001c0001t0001g0001 a0007c0010t0001g0268 a0007c0010t0001g0269 a0007c0010t0001g0270	5	402	0.0124	-104	c.588 others(17): Show c.5889+268_5889+371del	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TPR_chr1_186306652_186380253	186327162	TAACATAT others(97): Show TAACATATATATTATATATATAAATATATATTATATATTTATATATATAA TATATATAAATATATAATATATATTTATATATATAATATATATAAATATA TAATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00621.hp2 others(62): Show HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01109.hp1 HG01123.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 HG02602.hp1 HG02738.hp2 HG03490.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0001 a0009 a0012 others(1): Show a0001 a0009 a0012 a0017	a0001c0001 a0001c0020 a0001c0025 others(3): Show a0001c0001 a0001c0020 a0001c0025 a0009c0014 a0012c0022 a0017c0021	a0001c0001t0001 a0001c0001t0012 a0001c0020t0001 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0020t0001 a0001c0025t0001 a0009c0014t0006 a0012c0022t0016 a0017c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0025 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0227 a0001c0001t0012g0183 a0001c0020t0001g0185 a0001c0025t0001g0065 a0009c0014t0006g0055 a0009c0014t0006g0056 a0012c0022t0016g0175 a0017c0021t0001g0178	65	402	0.1617	-104	c.588 others(17): Show c.5889+194_5889+297del	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TRAFD1_chr12_112120560_112158604	112150607	GAGTGCAG others(97): Show GAGTGCAGTGGCGTGATCACTGCAGTCTCAACCTCTTGAGCTCAAGTGAT TCTCCCACTCTTAGCCTCCTGAGTAGCTGGGACTATAGGTAGGCTAGGTG CCCAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	344	0.0029	-104	c.127 others(17): Show c.1279+737_1279+840del	TRAFD1	ENSG00000135148.12	transcript	ENST00000412615.7	protein_coding	9/11			chr12	TogoVar
TRAPPC5_chr19_7675833_7692703	7692599	CCTTACAG others(97): Show CCTTACAGCCAGCAGAACGCCAGTCACTAACACCATCGCCATCAGCACTT CGTGGTTAGCAACACCTCAGCTGACGCCAATGTCACCACAAACACCTCAT GGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02896.hp2 others(1): Show HG02109.hp1 HG02451.hp2 HG02896.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0001 a0002c0002t0016g0001	4	452	0.0088	-104	c.97 others(11): Show c.9780_*9883del	TRAPPC5	ENSG00000181029.9	transcript	ENST00000596148.3	protein_coding		4897		chr19	TogoVar
TRAPPC9_chr8_139722725_140462744	140156940	CTTTCCAT others(97): Show CTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATT CAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCC TCCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0010 a0001c0009t0005g0010	1	90	0.0111	-104	c.255 others(21): Show c.2556+64415_2556+64518del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TREML4_chr6_41223349_41243882	41231817	GAACTCCT others(97): Show GAACTCCTGTGGGAGATAAAGGATGAAAGAAAGAAATATTTGGAGAAAGA ATCCAGGAAATTTTTTCAAAATTATAGAAGAAAAGACCTCAAATTGAAAA GATTC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0079 a0001c0001t0035g0079	1	426	0.0023	-104	c.506 others(17): Show c.506+1697_506+1800del	TREML4	ENSG00000188056.12	transcript	ENST00000341495.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
TRIQK_chr8_92878534_92971144	92949682	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGAAAGGAAGGAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAAGA AAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp2 HG01358.hp2 others(16): Show HG00558.hp2 HG01256.hp2 HG01358.hp2 HG01934.hp1 HG02080.hp2 HG02155.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02818.hp2 NA18952.hp2 NA19001.hp1 NA19004.hp1 NA19009.hp2 NA19063.hp1 NA19082.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 others(16): Show a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0006g0029 a0001c0001t0007g0044	19	284	0.0669	-104	c.-22 others(17): Show c.-22+4620_-22+4723del	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TRNT1_chr3_3121940_3154023	3150075	TACAGTAT others(97): Show TACAGTATCAAGTTTAGTCTGGGTGAGGGGACATGTTTTGGCATCTTTTC CCTATAGTAGTAGTTTTGGTTCAAATTAATTTTTGAAAAATAGCTTTTGT ATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	400	0.0025	-104	c.19 others(11): Show c.1922_*2025del	TRNT1	ENSG00000072756.18	transcript	ENST00000251607.11	protein_coding		1053		chr3	TogoVar
TRPC4AP_chr20_34997404_35097807	35097392	CATATACA others(97): Show CATATACATATGTACACACGTGTGTATATATACATATGTACACACGTGTG TATATATACATATGTACACACGTGTGTATATATACATATGTACACACGTG TGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	311	0.0032	-104	c.-47 others(11): Show c.-4715_-4612del	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4586		chr20	TogoVar
TYMS_chr18_652653_678578	667214	GAGATGGT others(97): Show GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGATGGA GATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGATGGTGAT GGAGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0308 a0001c0001t0006g0308	1	480	0.0021	-104	c.455 others(17): Show c.455-1857_455-1754del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6			chr18	TogoVar
UBE3A_chr15_25328728_25444024	25367164	TATATTTA others(97): Show TATATTTACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATG TAAATATTTACATATTTGTAAATATGTAAATATTTGCATATTTGTAAATA TGTAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0152 a0001c0001t0008g0153	2	233	0.0086	-104	c.160 others(19): Show c.1608+3298_1608+3401del	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
USP40_chr2_233470526_233571782	233567318	TATTATAG others(97): Show TATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATAT AAGATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTAT ATAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	244	0.0041	-104	c.-75 others(9): Show c.-758_-655del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		537		chr2	TogoVar
USP40_chr2_233470526_233571782	233567612	CTATATAA others(97): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	303	0.0033	-104	c.-10 others(10): Show c.-1052_-949del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		831		chr2	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(97): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	190	0.0053	-104	c.-12 others(11): Show c.-1228_-1125del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1007		chr2	TogoVar
VIPR2_chr7_159023175_159149867	159101915	GGTTCCAA others(97): Show GGTTCCAACTGTTCCTGTGGTAGTGAATGAGTCTCACGAGATCCGACGAG GTGGTTCCGACTGTTCCTGTGGTAGTGAATGAGTCTCACGAGATCCGACG AGGCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0199 a0001c0013t0012g0199	1	283	0.0035	-104	c.357 others(17): Show c.357+1738_357+1841del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159147103	TATCAGTC others(97): Show TATCAGTCATCTATCATCTGCCTATCTGTCATCTGCCTGTCATCTATCAT CTGCCTATTTGTCATCTATCTGTGATCTATCATATCTGTGATCTGCCTGT CATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG02293.hp2 others(2): Show HG01106.hp2 HG01255.hp1 HG02293.hp2 HG02735.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0018 a0001c0001 a0002c0018	a0001c0001t0001 a0001c0001t0021 a0002c0018t0014 a0001c0001t0001 a0001c0001t0021 a0002c0018t0014	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 others(2): Show a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0021g0296 a0002c0018t0014g0152	5	334	0.0150	-104	c.-24 others(11): Show c.-2436_-2333del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		2237		chr7	TogoVar
VIPR2_chr7_159023175_159149867	159147104	ATCAGTCA others(97): Show ATCAGTCATCTATCATCTGCCTATCTGTCATCTGCCTGTCATCTATCATC TGCCTATTTGTCATCTATCTGTGATCTATCATATCTGTGATCTGCCTGTC ATCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0153 a0001c0004t0039g0153	1	334	0.0030	-104	c.-24 others(11): Show c.-2437_-2334del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		2238		chr7	TogoVar
WDR37_chr10_1051385_1137372	1089590	AGCCTTCC others(97): Show AGCCTTCCCGTGCTCACCCACAATTCAACCTTCCCATGCTCACCCACAAT TCAGCCTTCCCGTGCTCACCCGCAGTTCGGCCTTCCCGTGCTCACCCGCA GTTCG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0232 a0001c0001t0020g0232	1	360	0.0028	-104	c.604 others(17): Show c.604+3252_604+3355del	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR70_chr5_37374318_37758435	37415454	CGGGGGCT others(97): Show CGGGGGCTGATCCCCCCACCTCCCTCCCGGAAGGGGCGGCTGGGGGTGGG GGGGGCCTGACCCCCCCACCTCACCTCCCTCCCGGGTGGGGCGGCTGGCC GGGCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02559.hp1 others(6): Show HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083	9	240	0.0375	-104	c.492 others(19): Show c.492+18894_492+18997del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WTIP_chr19_34476758_34517304	34480292	CATTTTTC others(97): Show CATTTTTCATGTCCTGGCTTCCCTGGGTATTTGCTCTCCCAAATGCTGGC TTCTAGACCCCGCACGGAGTCTCATGCCTGTAATCTCAGCGTTTTGTGTG GTGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0039 a0005c0012t0039	a0005c0012t0039g0187 a0005c0012t0039g0187	1	394	0.0025	-104	c.-16 others(11): Show c.-1682_-1579del	WTIP	ENSG00000142279.13	transcript	ENST00000590071.7	protein_coding		1465		chr19	TogoVar
YTHDC2_chr5_113508694_113600284	113587046	TAATATAT others(97): Show TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0257 a0002c0002t0003g0257	1	312	0.0032	-104	c.382 others(19): Show c.3825+2576_3825+2679del	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
YTHDC2_chr5_113508694_113600284	113587078	TAATATAT others(97): Show TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18994.hp2 NA19076.hp1 others(1): Show HG01934.hp1 NA18994.hp2 NA19076.hp1 NA19085.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0020 a0002c0002 a0013c0020	a0002c0002t0003 a0013c0020t0017 a0002c0002t0003 a0013c0020t0017	a0002c0002t0003g0242 a0002c0002t0003g0285 a0002c0002t0003g0298 others(1): Show a0002c0002t0003g0242 a0002c0002t0003g0285 a0002c0002t0003g0298 a0013c0020t0017g0241	4	266	0.0150	-104	c.382 others(19): Show c.3825+2608_3825+2711del	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZDHHC11B_chr5_705355_789729	748918	CGCCCACC others(97): Show CGCCCACCCCTTCCTCACTAAGTGCCGGGGTCACAGTGCCTACCCCTTCC TAAGTGCTGGGGTCACAGCACCCACCCCTTCCTCACTAAGTGCTGGGGTC ACAGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG01192.hp2 others(38): Show HG00544.hp1 HG01106.hp2 HG01192.hp2 HG01346.hp2 HG02027.hp2 HG02109.hp2 HG02132.hp1 HG02451.hp1 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18944.hp2 NA18950.hp1 NA18955.hp1 NA18962.hp1 NA18966.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19062.hp2 NA19080.hp1 NA19086.hp2 NA20129.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0007 a0010 a0011 a0016 a0019 a0020	a0001c0010 a0001c0011 a0001c0020 others(16): Show a0001c0010 a0001c0011 a0001c0020 a0001c0023 a0001c0035 a0001c0036 a0001c0038 a0001c0039 a0001c0046 a0003c0007 a0005c0027 a0005c0053 a0005c0064 a0007c0019 a0010c0057 a0011c0059 a0016c0060 a0019c0056 a0020c0055	a0001c0010t0016 a0001c0010t0056 a0001c0011t0014 others(21): Show a0001c0010t0016 a0001c0010t0056 a0001c0011t0014 a0001c0020t0033 a0001c0023t0032 a0001c0035t0058 a0001c0036t0016 a0001c0038t0034 a0001c0039t0052 a0001c0046t0018 a0003c0007t0008 a0003c0007t0013 a0003c0007t0037 a0005c0027t0013 a0005c0027t0017 a0005c0053t0017 a0005c0064t0017 a0007c0019t0017 a0007c0019t0027 a0010c0057t0008 a0011c0059t0017 a0016c0060t0013 a0019c0056t0008 a0020c0055t0008	a0001c0010t0016g0199 a0001c0010t0016g0200 a0001c0010t0016g0202 others(37): Show a0001c0010t0016g0199 a0001c0010t0016g0200 a0001c0010t0016g0202 a0001c0010t0016g0203 a0001c0010t0016g0205 a0001c0010t0056g0206 a0001c0011t0014g0091 a0001c0011t0014g0143 a0001c0011t0014g0144 a0001c0011t0014g0145 a0001c0011t0014g0146 a0001c0020t0033g0006 a0001c0023t0032g0249 a0001c0023t0032g0250 a0001c0035t0058g0235 a0001c0036t0016g0248 a0001c0038t0034g0255 a0001c0039t0052g0207 a0001c0046t0018g0196 a0003c0007t0008g0175 a0003c0007t0008g0177 a0003c0007t0008g0178 a0003c0007t0008g0182 a0003c0007t0008g0183 a0003c0007t0008g0185 a0003c0007t0013g0116 a0003c0007t0013g0186 a0003c0007t0037g0035 a0005c0027t0013g0179 a0005c0027t0017g0188 a0005c0053t0017g0176 a0005c0064t0017g0180 a0007c0019t0017g0174 a0007c0019t0027g0030 a0007c0019t0027g0031 a0010c0057t0008g0054 a0011c0059t0017g0173 a0016c0060t0013g0181 a0019c0056t0008g0187 a0020c0055t0008g0184	41	168	0.2440	-104	c.629 others(15): Show c.629-463_629-360del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	7/13			chr5	TogoVar
ZDHHC4_chr7_6572454_6594374	6577119	AAAATAAA others(97): Show AAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAAT AAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG03130.hp2 others(3): Show HG02647.hp1 HG02886.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0088	6	404	0.0149	-104	c.-54 others(9): Show c.-541_-438del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		334		chr7	TogoVar
ZGPAT_chr20_63703039_63741142	63731457	GGTGTGTA others(97): Show GGTGTGTATGTGTGCATGTGCATACGTGTGTAAAGTGTACAATTGGCCCT TGGTGTGTGTGTGATTGTGTGCATACGTGTGTAAAGTGTACAGTTGGCCC TTGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(89): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG01109.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG03017.hp1 HG03834.hp2 HG03927.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0010t0001 a0001c0001t0001 a0001c0001t0005 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0005g0117 a0001c0010t0001g0110	92	344	0.2674	-104	c.585 others(17): Show c.585-1737_585-1634del	ZGPAT	ENSG00000197114.12	transcript	ENST00000355969.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF511_chr10_133303914_133318161	133318017	CCCCCCCC others(97): Show CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACACA CCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	275	0.0036	-104	c.51 others(11): Show c.5152_*5255del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4857		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392909	AAGGCAGG others(97): Show AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTC	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA20752.hp2 NA18982.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0116 a0003c0007t0002 a0003c0007t0116	a0003c0007t0002g0301 a0003c0007t0116g0182 a0003c0007t0002g0301 a0003c0007t0116g0182	2	341	0.0059	-104	c.181 others(21): Show c.1811-12710_1811-12607del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACTN4_chr19_38642649_38736589	38735922	CGGGGCGG others(96): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGCAGGGGTTCTGGGGGCGGGGCAGGTCAGGTCTCGGGGGTC TCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03710.hp2 HG02735.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0198 a0001c0001t0019g0199 a0001c0001t0019g0198 a0001c0001t0019g0199	2	304	0.0066	-103	c.64 others(11): Show c.6491_*6593del	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4334		chr19	TogoVar
ACTR3C_chr7_150242212_150328545	150244958	GCTATATG others(96): Show GCTATATGAAGGACAGACACACAGATAGTACATGACTTCCCTTGAGAAAT GGCAAGATGTGGTTATATTAAAACTGGATTTCTTCATGTAAGCATCAGTA ATAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	292	0.0034	-103	c.25 others(11): Show c.2547_*2649del	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding		2253		chr7	TogoVar
ADAMTS17_chr15_99966437_100346975	100225692	TCTCTGTG others(96): Show TCTCTGTGCCCATTCAGTCCTTAGAGCAGTCATGGTCTCTGTGCCATTCA GTCCTTATAGCAGTCATAGCCTCTGTCCCATTCTGTCCTTACAGCAGTCA CGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0191 a0002c0001t0004g0191	1	226	0.0044	-103	c.107 others(21): Show c.1076-26372_1076-26270del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21			chr15	TogoVar
ADAMTS8_chr11_130399923_130433609	130418176	GTCTCAAA others(96): Show GTCTCAAACAAAACAAAACAAAATTAAAAACCAAAAAGAATATAAAATAC AAAGGCTATCAAGATGGATTTCTGAGTGATAAGATCGGGAAATCTCTGTC TGTC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01099.hp2 others(16): Show HG00741.hp1 HG01070.hp2 HG01099.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA19240.hp2	a0003 a0005 a0008 others(2): Show a0003 a0005 a0008 a0010 a0015	a0003c0002 a0005c0016 a0008c0022 others(2): Show a0003c0002 a0005c0016 a0008c0022 a0010c0020 a0015c0041	a0003c0002t0002 a0003c0002t0007 a0003c0002t0008 others(5): Show a0003c0002t0002 a0003c0002t0007 a0003c0002t0008 a0003c0002t0016 a0005c0016t0006 a0008c0022t0003 a0010c0020t0008 a0015c0041t0007	a0003c0002t0002g0040 a0003c0002t0002g0247 a0003c0002t0007g0044 others(13): Show a0003c0002t0002g0040 a0003c0002t0002g0247 a0003c0002t0007g0044 a0003c0002t0007g0045 a0003c0002t0007g0300 a0003c0002t0007g0307 a0003c0002t0007g0309 a0003c0002t0007g0312 a0003c0002t0008g0308 a0003c0002t0016g0313 a0005c0016t0006g0073 a0005c0016t0006g0080 a0008c0022t0003g0255 a0008c0022t0003g0256 a0010c0020t0008g0299 a0015c0041t0007g0311	19	422	0.0450	-103	c.960 others(15): Show c.960+774_960+876del	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	2/8			chr11	TogoVar
ADARB1_chr21_45069580_45231560	45133753	TGCCCGAC others(96): Show TGCCCGACGGTGTGTGCGCCCGATGGGTGTGTGTGCCCGACAGTGGTGTG TGCGCCCGATGGGTGTGTGTGCCCGACAGTGGTGTGTGCGCCCGCCGGGT GTGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	348	0.0029	-103	c.-48 others(17): Show c.-48+5190_-48+5292del	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADGRB1_chr8_142444649_142550007	142520383	GATGGTAG others(96): Show GATGGTAGTGATTGTGATGTTGGTAATGGTGATAGTGGTAATGATTGTAT GATGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTTGTGT GATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0097 a0001c0013t0001g0097	1	308	0.0032	-103	c.292 others(17): Show c.2922-434_2922-332del	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AIG1_chr6_143055889_143346058	143157315	CTCAGGCC others(96): Show CTCAGGCCTTGCCTTCCTTCTCCTTGACCACAATCCGCAGAGTGCTCTGA TTCTCATATTGGTATTTGCCTCCAGGCAGTCCCAGTTTCTGAATTTCCTT CTGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	202	0.0050	-103	c.298 others(17): Show c.298-7765_298-7663del	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKR1C4_chr10_5191837_5223949	5206690	TATCTCTA others(96): Show TATCTCTAAGGTATGAAAGACCACCAGAGAGTGGATTGGTAAAGATGATT TGGAGTAGAATGTATATAATTATAGAGGCCATAAAAACATGGGATGAGCA ATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01069.hp1 others(27): Show HG00099.hp2 HG00280.hp2 HG01069.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04228.hp1 NA18962.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20805.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0003 a0004c0006 others(2): Show a0001c0001 a0001c0003 a0004c0006 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0003t0001 a0004c0006t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0004c0006t0001 a0005c0010t0001 a0006c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0081 others(15): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0176 a0001c0003t0001g0010 a0001c0003t0001g0029 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0079 a0004c0006t0001g0037 a0004c0006t0001g0174 a0005c0010t0001g0076 a0006c0009t0001g0037	30	432	0.0694	-103	c.570 others(15): Show c.570+297_570+399del	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALDH1L2_chr12_105014790_105089458	105036057	TATATATA others(96): Show TATATATATACGTATATTTATATATGTGTATATATTATATATACGTATAT TTATATATGTGTATATATATTATATATATACGTATATTTATATATGTGTA TATA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0313 a0001c0001t0005g0313	1	358	0.0028	-103	c.214 others(19): Show c.2146-1762_2146-1660del	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALOXE3_chr17_8090900_8123514	8107862	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp2 NA18522.hp2 others(1): Show HG02886.hp2 HG03130.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0019 a0001c0002t0001g0324 a0001c0002t0003g0372 a0001c0002t0001g0019 a0001c0002t0001g0324 a0001c0002t0003g0372	4	420	0.0095	-103	c.168 others(17): Show c.1684+503_1684+605del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMTN_chr4_70513569_70537743	70516301	AATATATA others(96): Show AATATATATATATATATATATATACGTATATATATATATACGTATATATA TACATATATATGTATATATATACATGTATATATATACGTATATATATATA TACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01361.hp2 others(12): Show HG00639.hp1 HG01099.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02148.hp1 HG02273.hp2 HG02970.hp1 HG03041.hp1 HG03540.hp1 HG03704.hp1 NA19081.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0001 a0001c0002t0001g0041 a0001c0002t0001g0067 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0041 a0001c0002t0001g0067 a0001c0002t0006g0071	15	360	0.0417	-103	c.-23 others(11): Show c.-2368_-2266del	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2267		chr4	TogoVar
AMTN_chr4_70513569_70537743	70516302	ATATATAT others(96): Show ATATATATATATATATATATATACGTATATATATATATACGTATATATAT ACATATATATGTATATATATACATGTATATATATACGTATATATATATAT ACGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01192.hp2 others(20): Show HG01099.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp1 HG01361.hp1 HG01975.hp1 HG02129.hp1 HG02451.hp1 HG02559.hp1 HG02723.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 NA18972.hp1 NA18997.hp1 NA18998.hp1 NA19003.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 others(3): Show a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0058 a0001c0002t0001g0068	23	340	0.0676	-103	c.-23 others(11): Show c.-2367_-2265del	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2266		chr4	TogoVar
ANKRD36_chr2_97108153_97269521	97266402	CGGGGGTG others(96): Show CGGGGGTGGCTGGAGGCCCCGGTTGGGAGGTGCCTCACTGGGCAGGACCT CCAGAACTCCATGCCAGGGAGAATTCAAATCTCTGTCAGCCCCAGAACAC TGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02071.hp1 HG02083.hp2 others(13): Show HG00597.hp2 HG02071.hp1 HG02083.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 NA18941.hp2 NA18951.hp2 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18999.hp2 NA19070.hp1 NA19085.hp1 NA19088.hp1	a0004 a0004	a0004c0004 a0004c0009 a0004c0017 a0004c0004 a0004c0009 a0004c0017	a0004c0004t0002 a0004c0009t0002 a0004c0017t0002 a0004c0004t0002 a0004c0009t0002 a0004c0017t0002	a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 others(12): Show a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0190 a0004c0004t0002g0191 a0004c0004t0002g0203 a0004c0009t0002g0181 a0004c0009t0002g0182 a0004c0009t0002g0183 a0004c0009t0002g0184 a0004c0009t0002g0185 a0004c0017t0002g0188 a0004c0017t0002g0192	16	210	0.0762	-103	c.20 others(11): Show c.2081_*2183del	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding		1882		chr2	TogoVar

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