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
TBXAS1_chr7_139824264_140025293	139950667	CTCCATCT others(137): Show CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp2 HG02451.hp2 others(4): Show HG00642.hp2 HG01255.hp2 HG02451.hp2 HG02559.hp1 HG02698.hp1 HG03239.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0147 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0246	7	270	0.0259	-144	c.451 others(17): Show c.451-2619_451-2476del	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM144_chr4_158205486_158260416	158257032	ATTATATA others(137): Show ATTATATATAGTATTATATATTATATATAGTATTATATATATTATATATA GTATTATATATTATATATAGTATTATATATATTATATATAGTATTATATA TTATATATAGTATTATATATAATATATAGTATTATATATAGTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(29): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01975.hp1 HG01978.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp2 NA18992.hp2 NA19001.hp2 NA19077.hp1 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0028 a0001c0001t0040 a0001c0001t0044 a0001c0001t0056 a0001c0001t0057 a0001c0002t0002 a0001c0002t0012 a0001c0002t0060 a0001c0002t0063	a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0034 others(27): Show a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0002g0203 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0005g0024 a0001c0001t0012g0137 a0001c0001t0012g0146 a0001c0001t0028g0119 a0001c0001t0028g0120 a0001c0001t0040g0020 a0001c0001t0044g0069 a0001c0001t0056g0158 a0001c0001t0057g0131 a0001c0002t0002g0139 a0001c0002t0012g0011 a0001c0002t0012g0080 a0001c0002t0060g0154 a0001c0002t0063g0134	32	274	0.1168	-144	c.35 others(11): Show c.3506_*3649del	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1617		chr4	TogoVar
TMX2_chr11_57707593_57745973	57716574	CCCACCTC others(137): Show CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGAGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTGGGGGGCTGACT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	344	0.0029	-144	c.189 others(17): Show c.189+3770_189+3913del	TMX2	ENSG00000213593.10	transcript	ENST00000278422.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TP73_chr1_3647516_3741201	3674989	GGTCTCCT others(137): Show GGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTG TCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTC TCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp2 HG02559.hp2 others(9): Show HG01167.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02818.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 a0001c0004t0009 a0001c0005t0011 a0001c0007t0031 a0001c0019t0009	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0213 a0001c0001t0002g0200 a0001c0001t0044g0030 a0001c0004t0009g0037 a0001c0004t0009g0039 a0001c0005t0011g0025 a0001c0007t0031g0047 a0001c0019t0009g0045	12	358	0.0335	-144	c.-33 others(17): Show c.-33-7131_-33-6988del	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1533824	GTGTGCAT others(137): Show GTGTGCATTCTCCTCAAATGCCCCTAGCTTTGTGAAACCTCCCCAAATCC CCCCCACTCTGTGTGCAACCTCCCCAGATCTCCTTTCTGTGCAACCTCCA TAAATCCAACCAAATGTATGCAACCTCCTCAAATCCCCACCACTC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0004 a0007c0021t0004	a0007c0021t0004g0031 a0007c0021t0004g0031	1	130	0.0077	-144	c.261 others(19): Show c.2619-6763_2619-6620del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPPP_chr5_654862_698352	667977	CAGAGAGG others(137): Show CAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACA GAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACTGG AGAGGGGTCCGCGTGGGCCCCATCAGGGAAGTACCGACAAGCACA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG02615.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0212 a0001c0001t0033g0345 a0001c0001t0033g0212 a0001c0001t0033g0345	2	409	0.0049	-144	c.312 others(17): Show c.312-1998_312-1855del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TRIML1_chr4_188134441_188152743	188151977	TGAGAAGG others(137): Show TGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGGGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	228	0.0044	-144	c.46 others(11): Show c.4606_*4749del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4235		chr4	TogoVar
TRIO_chr5_14138342_14515204	14403401	TGATGAGG others(137): Show TGATGAGGGTGTAGGTTGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGTAG GTTGTGGTGAGGGTGCAGGTTGTGGTGAGGGTGCAGGTGGTGGTGGTGAG GGTGTAGGTGGTGGTGGTGAGGGTGCAGGTTGTGGTGAGGGTGCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02145.hp2 others(10): Show HG01074.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG03098.hp1 HG03130.hp1 HG03486.hp1 HG03516.hp1 NA20300.hp2	a0001 a0012 a0015 a0001 a0012 a0015	a0001c0004 a0012c0028 a0015c0052 a0001c0004 a0012c0028 a0015c0052	a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 others(3): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0011 a0012c0028t0006 a0015c0052t0008	a0001c0004t0001g0004 a0001c0004t0001g0106 a0001c0004t0001g0107 others(10): Show a0001c0004t0001g0004 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0111 a0001c0004t0001g0113 a0001c0004t0001g0119 a0001c0004t0001g0189 a0001c0004t0002g0175 a0001c0004t0008g0060 a0001c0004t0011g0008 a0012c0028t0006g0110 a0015c0052t0008g0061	13	198	0.0657	-144	c.471 others(19): Show c.4716+2339_4717-2302del	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPM4_chr19_49152792_49216836	49166425	TCCCTCTC others(137): Show TCCCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCCC CCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCCCCC TCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0007 a0003c0005t0001g0007	1	312	0.0032	-144	c.267 others(15): Show c.267+285_267+428del	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM7_chr15_50552158_50691797	50640369	CGGGCTCA others(137): Show CGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTAGGAGGGTA GGCACATACCACCATGCCGGGGTAATTTTTTTTTCTTTTTTTTTTTTTTT TTAGAAAGTGTCTTACCATGTTGCCCAGGCTAGTTTTGAACTCCT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	352	0.0028	-144	c.536 others(15): Show c.536-965_536-822del	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	5/38			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042044	TTCATAAC others(137): Show TTCATAACCACACCTGGCCAGAGGTGCCGGGGGGGCATCATAACCACACC TGGCCAGAGGTGCCGGTGGGACTTCATAACCCCACCTGGCCAGAGGTGCC GGGGGGACTTCATAACCACACCTGGCCAGAGGTACCGGGGGGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02615.hp2 HG02647.hp2 HG01099.hp1 HG02615.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135	3	351	0.0086	-144	c.-26 others(11): Show c.-2645_-2502del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2476		chr15	TogoVar
TYMS_chr18_652653_678578	666888	GGGAGATG others(137): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT GATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	482	0.0021	-144	c.455 others(17): Show c.455-2169_455-2026del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UMPS_chr3_124725452_124754273	124750106	GGACGGGG others(137): Show GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCAGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCCGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0020 a0002c0002t0011g0020	1	434	0.0023	-144	c.60 others(11): Show c.6023_*6166del	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		834		chr3	TogoVar
UNC93A_chr6_167286315_167321014	167295439	CCCTCGTG others(137): Show CCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGAACCTC GCCTCCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTGCCTCGTGCT CCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02559.hp1 HG02040.hp1 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0003c0009t0001 a0001c0001t0002 a0003c0009t0001	a0001c0001t0002g0295 a0003c0009t0001g0250 a0001c0001t0002g0295 a0003c0009t0001g0250	2	448	0.0045	-144	c.270 others(15): Show c.270-549_270-406del	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNKL_chr16_1358205_1419704	1386157	CCAGCACT others(137): Show CCAGCACTTTGGGAGGCCAAGGTGGGCAGATTACTGGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAA AAAAAATTAGCCAAGGCCGGGCGCGGTGGCTCACACCTGTAATCG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0274 a0001c0001t0018g0273 a0001c0001t0003g0274 a0001c0001t0018g0273	2	322	0.0062	-144	c.108 others(17): Show c.1087-916_1087-773del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	9/14			chr16	TogoVar
VAV2_chr9_133756894_133997324	133827216	GCTACTGC others(137): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp1 HG01243.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0028 a0002c0001 a0001c0028 a0002c0001	a0001c0028t0005 a0002c0001t0002 a0001c0028t0005 a0002c0001t0002	a0001c0028t0005g0024 a0002c0001t0002g0134 a0001c0028t0005g0024 a0002c0001t0002g0134	2	200	0.0100	-144	c.449 others(17): Show c.449+6912_449+7055del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827226	TGCCCACT others(137): Show TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCC CACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0169 a0001c0009t0002g0169	1	200	0.0050	-144	c.449 others(17): Show c.449+6902_449+7045del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827274	CGCCCACT others(137): Show CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0183 a0001c0007t0003g0183	1	200	0.0050	-144	c.449 others(17): Show c.449+6854_449+6997del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827308	GCCAGCTA others(137): Show GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCA GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	200	0.0050	-144	c.449 others(17): Show c.449+6820_449+6963del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827312	GCTACTGC others(137): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 NA19064.hp2 HG02145.hp1 HG02647.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0001 a0001c0009 a0002c0001	a0001c0009t0021 a0002c0001t0002 a0002c0001t0031 a0001c0009t0021 a0002c0001t0002 a0002c0001t0031	a0001c0009t0021g0104 a0002c0001t0002g0187 a0002c0001t0031g0102 a0001c0009t0021g0104 a0002c0001t0002g0187 a0002c0001t0031g0102	3	200	0.0150	-144	c.449 others(17): Show c.449+6816_449+6959del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827418	TGCCCACT others(137): Show TGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0097 a0001c0003t0006g0097	1	200	0.0050	-144	c.449 others(17): Show c.449+6710_449+6853del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827732	CGGGCATC others(137): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01243.hp1 others(2): Show HG00639.hp1 HG01175.hp1 HG01243.hp1 HG02976.hp2 HG04184.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0001 a0001c0004t0002 a0001c0009t0002 a0001c0004t0001 a0001c0004t0002 a0001c0009t0002	a0001c0004t0001g0131 a0001c0004t0001g0180 a0001c0004t0002g0023 others(2): Show a0001c0004t0001g0131 a0001c0004t0001g0180 a0001c0004t0002g0023 a0001c0004t0002g0196 a0001c0009t0002g0027	5	200	0.0250	-144	c.449 others(17): Show c.449+6396_449+6539del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827780	CGGGCATC others(137): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGG GGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGG CATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0175 a0001c0007t0003g0175	1	200	0.0050	-144	c.449 others(17): Show c.449+6348_449+6491del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828003	GGGCTGAC others(137): Show GGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAG GCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGC TGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0075 a0002c0001t0004g0075	1	200	0.0050	-144	c.449 others(17): Show c.449+6125_449+6268del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828042	CGCCCACT others(137): Show CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	200	0.0050	-144	c.449 others(17): Show c.449+6086_449+6229del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828305	GTGGGGGC others(137): Show GTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02451.hp1 HG02647.hp1 others(4): Show HG00544.hp2 HG02451.hp1 HG02647.hp1 HG02897.hp2 HG02976.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0019 a0002c0001 a0001c0009 a0001c0019 a0002c0001	a0001c0009t0002 a0001c0009t0021 a0001c0019t0010 others(2): Show a0001c0009t0002 a0001c0009t0021 a0001c0019t0010 a0002c0001t0001 a0002c0001t0004	a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0169 others(4): Show a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0169 a0001c0009t0021g0104 a0001c0019t0010g0090 a0002c0001t0001g0065 a0002c0001t0004g0075	7	200	0.0350	-144	c.449 others(17): Show c.449+5823_449+5966del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828320	CCTACCGC others(137): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGACCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp1 others(54): Show HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02273.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03225.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18952.hp1 NA18959.hp2 NA19000.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0022 a0001c0023 a0001c0028 a0001c0030 a0002c0001 a0002c0005 a0002c0011 a0002c0031 a0004c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0034 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0034 a0001c0003t0002 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0007t0003 a0001c0007t0011 a0001c0008t0001 a0001c0008t0002 a0001c0022t0015 a0001c0023t0019 a0001c0028t0005 a0001c0030t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0010 a0002c0001t0018 a0002c0001t0035 a0002c0005t0001 a0002c0011t0003 a0002c0031t0001 a0004c0014t0001	a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0103 others(54): Show a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0179 a0001c0002t0034g0117 a0001c0003t0002g0119 a0001c0003t0016g0054 a0001c0004t0001g0189 a0001c0004t0002g0029 a0001c0007t0003g0095 a0001c0007t0011g0120 a0001c0007t0011g0124 a0001c0008t0001g0011 a0001c0008t0002g0174 a0001c0022t0015g0055 a0001c0023t0019g0138 a0001c0028t0005g0024 a0001c0030t0001g0014 a0002c0001t0001g0002 a0002c0001t0001g0022 a0002c0001t0001g0043 a0002c0001t0001g0062 a0002c0001t0001g0077 a0002c0001t0001g0108 a0002c0001t0001g0111 a0002c0001t0001g0133 a0002c0001t0001g0147 a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0178 a0002c0001t0001g0193 a0002c0001t0002g0006 a0002c0001t0002g0032 a0002c0001t0002g0060 a0002c0001t0002g0071 a0002c0001t0002g0074 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0004g0039 a0002c0001t0004g0142 a0002c0001t0010g0031 a0002c0001t0018g0199 a0002c0001t0018g0200 a0002c0001t0035g0144 a0002c0005t0001g0037 a0002c0005t0001g0068 a0002c0005t0001g0110 a0002c0011t0003g0135 a0002c0031t0001g0163 a0004c0014t0001g0015	57	200	0.2850	-144	c.449 others(17): Show c.449+5808_449+5951del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VPS53_chr17_503668_719839	594827	CGAGGAAG others(137): Show CGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT GGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCCACCCTG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0089 a0002c0003t0089	a0002c0003t0089g0175 a0002c0003t0089g0175	1	232	0.0043	-144	c.121 others(19): Show c.1218+6824_1218+6967del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82614238	CGTCCCGC others(137): Show CGTCCCGCCACAGGGAGTGAGGAGGGCAGGCCGCCCCGTCCCGCCACAGG GAGTGAGGAGGGCAGGCCGCCCCGTCCCGACACAGGGAGTGAGGAGGGCA GGCTGTCCTGTCCCGACACAGGGAATGAGGAGGGCAGGCTGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00597.hp2 others(73): Show HG00140.hp2 HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02280.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18939.hp2 NA18943.hp2 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18991.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0002t0002 a0001c0002t0013 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0013 a0001c0002t0015 a0003c0005t0002	a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0002t0002g0001 others(66): Show a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0143 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0013g0067 a0001c0002t0015g0080 a0003c0005t0002g0017	76	382	0.1990	-144	c.15 others(11): Show c.1537_*1680del	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		323		chr17	TogoVar
XG_chrX_2747040_2821500	2773502	AGAAGGAA others(137): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0059 a0001c0001t0029g0059	1	322	0.0031	-144	c.104 others(16): Show c.104-1102_104-959del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773614	AGAAGGAA others(137): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0124 a0001c0001t0047g0124	1	322	0.0031	-144	c.104 others(16): Show c.104-1086_104-943del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773630	AGAAGGAA others(137): Show AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG01891.hp2 others(4): Show HG00280.hp1 HG00544.hp1 HG01891.hp2 HG01952.hp2 HG02293.hp1 HG02723.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0049 a0001c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0312 a0001c0001t0002g0117 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0312 a0001c0001t0002g0117 a0001c0001t0003g0178 a0001c0001t0012g0289 a0001c0001t0049g0122 a0001c0002t0001g0011	7	322	0.0217	-144	c.104 others(16): Show c.104-1070_104-927del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF136_chr19_12158096_12194871	12171082	ACCTTGGC others(137): Show ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCAG GCCCCACCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGGTTTCACCA TGTTGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	366	0.0027	-144	c.3+7 others(13): Show c.3+7880_3+8023del	ZNF136	ENSG00000196646.12	transcript	ENST00000343979.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF253_chr19_19860882_19899674	19885254	TCTTTCTT others(137): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0328 a0002c0003t0005g0328	1	370	0.0027	-144	c.226 others(17): Show c.226+5109_226+5252del	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62369789	TATATATA others(137): Show TATATATATATGTCCCATATATATATATCTCATATATATGTCCCATATAT ATATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCC ATATATATATATATCTCATATATATGTCCCATATATATATATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03139.hp1 NA18957.hp1 HG02698.hp1 HG03139.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0159 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0159	3	350	0.0086	-144	c.-46 others(11): Show c.-4682_-4539del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4579		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392715	TGGGAAGG others(137): Show TGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGA CCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGGCCAGGTGGGGGAAAG GCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0071 a0001c0028t0071	a0001c0028t0071g0128 a0001c0028t0071g0128	1	346	0.0029	-144	c.181 others(21): Show c.1811-12556_1811-12413del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392805	TGGGGGAA others(137): Show TGGGGGAAAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0192 a0002c0003t0192	a0002c0003t0192g0204 a0002c0003t0192g0204	1	346	0.0029	-144	c.181 others(21): Show c.1811-12646_1811-12503del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1237068	CCGGTGGT others(136): Show CCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCC GGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG GTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp2 HG04184.hp2 others(1): Show HG02080.hp2 HG02602.hp2 HG04184.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0004 a0002c0004t0028 a0002c0002t0002 a0002c0002t0004 a0002c0004t0028	a0002c0002t0002g0075 a0002c0002t0004g0095 a0002c0002t0004g0101 others(1): Show a0002c0002t0002g0075 a0002c0002t0004g0095 a0002c0002t0004g0101 a0002c0004t0028g0020	4	106	0.0377	-143	c.136 others(19): Show c.1362-3366_1362-3224del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238830	GCCTCCCG others(136): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCC TCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTT	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	106	0.0094	-143	c.136 others(19): Show c.1361+3158_1361+3300del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239429	CCCCTCTG others(136): Show CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	-143	c.136 others(19): Show c.1361+2559_1361+2701del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239597	CCCCTCTG others(136): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	106	0.0094	-143	c.136 others(19): Show c.1361+2391_1361+2533del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239669	CCCCTCTG others(136): Show CCCCTCTGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCCCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC CCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0061 a0002c0002t0042g0061	1	106	0.0094	-143	c.136 others(19): Show c.1361+2319_1361+2461del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239813	CCCCTCTC others(136): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCC TCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0081 a0001c0001t0056g0081	1	106	0.0094	-143	c.136 others(19): Show c.1361+2175_1361+2317del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239837	CCCCCCTG others(136): Show CCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	106	0.0094	-143	c.136 others(19): Show c.1361+2151_1361+2293del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGL_chr1_99845361_99929020	99924983	CCTCAACC others(136): Show CCTCAACCTCCTGGGCTCAAACTACCCTCCCACCTCAGCATCCCAAGTAG CTAGGATGACAGGCGTACAACTACTGCACCCACCTAACTTTTGCATTTCT TTTTTTGTAGAGATGGGGGTCCACACTGTGTTGTCTAGGCTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	318	0.0031	-143	c.33 others(11): Show c.3333_*3475del	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding		964		chr1	TogoVar
AGL_chr1_99845361_99929020	99925078	TTTCTTTT others(136): Show TTTCTTTTTTTGTAGAGATGGGGGTCCACACTGTGTTGTCTAGGCTGGTC TCAACCTCCTGGGCTCAAACTACCCTCCCACCTCAGCATCCCAAGTAGCT AGGATGACAGGCGTACAACTACTGCACCCACCTAACTTTTGCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(111): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18989.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0016 a0017 a0024	a0001c0001 a0001c0002 a0001c0014 others(9): Show a0001c0001 a0001c0002 a0001c0014 a0002c0003 a0002c0007 a0003c0006 a0004c0005 a0004c0018 a0006c0008 a0016c0028 a0017c0027 a0024c0034	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(17): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0014t0016 a0002c0003t0005 a0002c0007t0002 a0002c0007t0005 a0003c0006t0008 a0004c0005t0002 a0004c0018t0005 a0006c0008t0007 a0006c0008t0008 a0016c0028t0002 a0017c0027t0013 a0024c0034t0005	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 others(102): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0297 a0001c0001t0005g0252 a0001c0001t0007g0207 a0001c0001t0007g0229 a0001c0001t0007g0231 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0240 a0001c0001t0008g0260 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0002t0005g0041 a0001c0002t0005g0088 a0001c0002t0006g0069 a0001c0002t0008g0051 a0001c0014t0016g0127 a0001c0014t0016g0157 a0002c0003t0005g0024 a0002c0003t0005g0029 a0002c0003t0005g0031 a0002c0003t0005g0033 a0002c0003t0005g0034 a0002c0003t0005g0035 a0002c0003t0005g0036 a0002c0003t0005g0038 a0002c0003t0005g0039 a0002c0003t0005g0040 a0002c0003t0005g0052 a0002c0003t0005g0054 a0002c0003t0005g0092 a0002c0003t0005g0100 a0002c0003t0005g0103 a0002c0007t0002g0003 a0002c0007t0002g0146 a0002c0007t0002g0147 a0002c0007t0002g0148 a0002c0007t0005g0279 a0002c0007t0005g0287 a0002c0007t0005g0290 a0003c0006t0008g0191 a0004c0005t0002g0107 a0004c0005t0002g0109 a0004c0005t0002g0110 a0004c0005t0002g0113 a0004c0005t0002g0114 a0004c0005t0002g0122 a0004c0005t0002g0123 a0004c0005t0002g0124 a0004c0005t0002g0125 a0004c0005t0002g0141 a0004c0005t0002g0154 a0004c0005t0002g0158 a0004c0005t0002g0162 a0004c0005t0002g0163 a0004c0005t0002g0164 a0004c0005t0002g0167 a0004c0005t0002g0171 a0004c0005t0002g0173 a0004c0018t0005g0032 a0006c0008t0007g0230 a0006c0008t0007g0241 a0006c0008t0008g0016 a0006c0008t0008g0203 a0016c0028t0002g0249 a0017c0027t0013g0202 a0024c0034t0005g0198	114	318	0.3585	-143	c.34 others(11): Show c.3428_*3570del	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding		1059		chr1	TogoVar
ALG12_chr22_49895229_49923438	49902648	CTGTGTGG others(136): Show CTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATA GTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTG CACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(119): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00642.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0008	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0002c0003 a0002c0013 a0005c0014 a0006c0016 a0007c0017 a0008c0018	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(40): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0064 a0001c0002t0065 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0074 a0001c0004t0009 a0001c0004t0019 a0001c0004t0032 a0001c0005t0013 a0001c0005t0020 a0001c0005t0021 a0001c0005t0034 a0001c0010t0066 a0001c0015t0012 a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 a0002c0003t0028 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040 a0002c0003t0042 a0002c0013t0030 a0005c0014t0013 a0006c0016t0041 a0007c0017t0007 a0008c0018t0067	a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(82): Show a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0007g0008 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0084 a0001c0002t0008g0013 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0078 a0001c0002t0008g0085 a0001c0002t0010g0047 a0001c0002t0010g0048 a0001c0002t0010g0189 a0001c0002t0010g0190 a0001c0002t0012g0050 a0001c0002t0012g0191 a0001c0002t0012g0192 a0001c0002t0016g0023 a0001c0002t0016g0083 a0001c0002t0026g0041 a0001c0002t0027g0049 a0001c0002t0029g0074 a0001c0002t0033g0075 a0001c0002t0035g0069 a0001c0002t0036g0082 a0001c0002t0037g0076 a0001c0002t0064g0172 a0001c0002t0065g0173 a0001c0002t0068g0188 a0001c0002t0069g0187 a0001c0002t0070g0186 a0001c0002t0071g0100 a0001c0002t0072g0174 a0001c0002t0074g0194 a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0009g0096 a0001c0004t0019g0028 a0001c0004t0032g0097 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0013g0088 a0001c0005t0020g0024 a0001c0005t0021g0025 a0001c0005t0034g0089 a0001c0010t0066g0184 a0001c0015t0012g0193 a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0017g0015 a0002c0003t0028g0158 a0002c0003t0028g0182 a0002c0003t0038g0057 a0002c0003t0039g0055 a0002c0003t0040g0051 a0002c0003t0042g0098 a0002c0013t0030g0052 a0005c0014t0013g0090 a0006c0016t0041g0099 a0007c0017t0007g0080 a0008c0018t0067g0185	122	348	0.3506	-143	c.10 others(11): Show c.1047_*1189del	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1047		chr22	TogoVar
ARHGAP18_chr6_129571132_129715177	129625337	ATATTTAT others(136): Show ATATTTATATGTAATATATATTATGTATATTTATATATATTATATATTAT ATATTTATACATATGTATTATATATTATATATAATATATATTATATATAA TATATATTTTATATTATATATTATATATAATATATATTTTATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18943.hp2 NA18963.hp1 others(1): Show HG02451.hp2 NA18943.hp2 NA18963.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0216 a0001c0001t0001g0218 a0002c0002t0001g0038 others(1): Show a0001c0001t0001g0216 a0001c0001t0001g0218 a0002c0002t0001g0038 a0002c0002t0003g0043	4	238	0.0168	-143	c.786 others(17): Show c.786+3873_786+4015del	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGEF10_chr8_1818926_1963641	1888189	TTTGCGAG others(136): Show TTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTG TGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGG GGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00642.hp1 others(21): Show HG00280.hp1 HG00621.hp2 HG00642.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG04115.hp2 HG06807.hp1 NA18941.hp1 NA18994.hp2 NA19010.hp2 NA19011.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0035 a0001c0041 a0001c0132 a0004c0040 a0004c0139 a0005c0087 a0010c0097	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0002t0001 a0001c0002t0010 a0001c0003t0020 a0001c0003t0026 a0001c0003t0063 a0001c0003t0068 a0001c0006t0001 a0001c0009t0023 a0001c0009t0058 a0001c0035t0001 a0001c0041t0007 a0001c0132t0020 a0004c0040t0065 a0004c0139t0009 a0005c0087t0002 a0010c0097t0014	a0001c0001t0002g0224 a0001c0001t0004g0141 a0001c0001t0006g0115 others(21): Show a0001c0001t0002g0224 a0001c0001t0004g0141 a0001c0001t0006g0115 a0001c0001t0019g0278 a0001c0002t0001g0037 a0001c0002t0001g0198 a0001c0002t0001g0211 a0001c0002t0001g0267 a0001c0002t0010g0212 a0001c0003t0020g0083 a0001c0003t0026g0190 a0001c0003t0063g0089 a0001c0003t0068g0338 a0001c0006t0001g0219 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0009t0058g0200 a0001c0035t0001g0045 a0001c0041t0007g0097 a0001c0132t0020g0084 a0004c0040t0065g0181 a0004c0139t0009g0196 a0005c0087t0002g0276 a0010c0097t0014g0205	24	363	0.0661	-143	c.118 others(19): Show c.1182+2484_1182+2626del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804104	CCCTCCTT others(136): Show CCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCC TCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0001t0023g0157 a0001c0001t0023g0158	2	254	0.0079	-143	c.163 others(15): Show c.163-849_163-707del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

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