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
AFDN_chr6_167821911_167977023	167905660	T T	TAAAAACA others(294): Show TAAAAACAAATGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 NA19030.hp1 HG02615.hp1 HG02622.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0028 a0001c0006 a0002c0028	a0001c0006t0001 a0002c0028t0001 a0001c0006t0001 a0002c0028t0001	a0001c0006t0001g0309 a0001c0006t0001g0312 a0002c0028t0001g0320 a0001c0006t0001g0309 a0001c0006t0001g0312 a0002c0028t0001g0320	3	313	0.0096	301	c.165 others(320): Show c.1651-1499_1651-1498insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAACAAATGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	12/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(294): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGAGGGGGGAGGAGGAGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAG GA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	119	0.0084	301	c.125 others(322): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTC CCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTC CCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTC CTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTC ACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANGPTL4_chr19_8359155_8379370	8363566	T T	TCTTTTCT others(294): Show TCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTC TGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTC CGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02976.hp1 others(2): Show HG02717.hp1 HG02895.hp2 HG02976.hp1 HG03579.hp1 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0011 a0003c0003t0001 a0003c0003t0011	a0003c0003t0001g0023 a0003c0003t0001g0094 a0003c0003t0011g0095 a0003c0003t0001g0023 a0003c0003t0001g0094 a0003c0003t0011g0095	5	399	0.0125	301	c.-75 others(310): Show c.-756_-755insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGAGCCCGGC	ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding		588		chr19	TogoVar
ANO2_chr12_5557655_5950259	5660426	T T	TAGAACAC others(294): Show TAGAACACGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCC TGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	113	0.0088	301	c.154 others(322): Show c.1546-12626_1546-12625insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGTTCTGTCGCCCAGGCAGGAGTGCTGTGGCGCGATCTCC GCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGGCGTGTTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(294): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00621.hp2 others(24): Show HG00544.hp1 HG00558.hp1 HG00621.hp2 HG01070.hp2 HG02040.hp1 HG02071.hp1 HG02135.hp1 HG04228.hp2 NA18941.hp2 NA18949.hp2 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18974.hp2 NA18980.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(5): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 a0002c0001t0011 a0002c0001t0017 a0002c0001t0018 a0002c0001t0019	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(24): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0002c0001t0001g0048 a0002c0001t0001g0058 a0002c0001t0001g0070 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0158 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0002g0053 a0002c0001t0002g0077 a0002c0001t0002g0123 a0002c0001t0007g0059 a0002c0001t0011g0079 a0002c0001t0017g0157 a0002c0001t0018g0060 a0002c0001t0019g0071	27	233	0.1159	301	c.494 others(316): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ARFIP1_chr4_152774954_152917357	152804213	T T	TATATATA others(294): Show TATATATAATATAACATGTATTATATATTATATATAACATAACATGTATT ATATATTATATATAATATAAGATGTATTATATATTATATATAATATAACA TGTATTATATATTATATATAATATAACATGTATTATATATTATATATAAT ATAACATGTATTATATATTATATATAATATAACATGTATTATATATTATA TATAATATAACATGTATTATATATTATATATAATATAACATGTATTATAT ATTATATATAATATAACATGTATTATATATAATATAACATGTATTATATA TA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04199.hp2 HG04184.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0212 a0001c0001t0002g0213	2	222	0.0090	301	c.-10 others(320): Show c.-10+24014_-10+24015insTATATATAACATAACATGTATTATAT ATTATATATAATATAAGATGTATTATATATTATATATAATATAACATGTA TTATATATTATATATAATATAACATGTATTATATATTATATATAATATAA CATGTATTATATATTATATATAATATAACATGTATTATATATTATATATA ATATAACATGTATTATATATTATATATAATATAACATGTATTATATATTA TATATAATATAACATGTATTATATATAATATAACATGTATTATATATAAT ATATAATATAACATGTATTATATAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1844406	C C	CGGGAGAA others(294): Show CGGGAGAATCCAGGGGTCCCTGGGGCCTGGTGGATGACAGAGACGGGAGA ATCCAGGGGTCACCGGGGCCTGGTGGACGACAGAGATGGGAGAATCCAGG GGTCCCTGGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCT GGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCTGGGGCCT GCTGGACGACAGAGACGGGAGAATCCAGGGGTCCCTGGGGCCTGCTGGAC GACAGAGACGGGAGAATCCAGGGGTCACCGGGGCCTGGTGGATGACAGAG AT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG01884.hp1 others(17): Show HG00642.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA20805.hp2	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0012 a0001c0023 a0001c0046 a0001c0123 a0003c0040 a0003c0044 a0003c0139 a0019c0103	a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 others(15): Show a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0012 a0001c0003t0006 a0001c0003t0042 a0001c0004t0005 a0001c0005t0016 a0001c0005t0027 a0001c0008t0002 a0001c0012t0001 a0001c0023t0001 a0001c0046t0001 a0001c0123t0001 a0003c0040t0011 a0003c0044t0010 a0003c0139t0011 a0019c0103t0002	a0001c0001t0002g0069 a0001c0001t0019g0245 a0001c0002t0001g0068 others(17): Show a0001c0001t0002g0069 a0001c0001t0019g0245 a0001c0002t0001g0068 a0001c0002t0001g0273 a0001c0002t0012g0190 a0001c0003t0006g0353 a0001c0003t0042g0122 a0001c0004t0005g0162 a0001c0005t0016g0167 a0001c0005t0027g0272 a0001c0008t0002g0242 a0001c0012t0001g0034 a0001c0023t0001g0038 a0001c0046t0001g0333 a0001c0046t0001g0334 a0001c0123t0001g0332 a0003c0040t0011g0041 a0003c0044t0010g0361 a0003c0139t0011g0270 a0019c0103t0002g0040	20	359	0.0557	301	c.37+ others(314): Show c.37+987_37+988insCCTGGGGCCTGGTGGATGACAGAGACGGGAGA ATCCAGGGGTCACCGGGGCCTGGTGGACGACAGAGATGGGAGAATCCAGG GGTCCCTGGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCT GGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCTGGGGCCT GCTGGACGACAGAGACGGGAGAATCCAGGGGTCCCTGGGGCCTGCTGGAC GACAGAGACGGGAGAATCCAGGGGTCACCGGGGCCTGGTGGATGACAGAG ATGGGAGAATCCAGGGGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1844406	C C	CGGGAGAA others(294): Show CGGGAGAATCCAGGGGTCCCTGGGGCCTGGTGGATGACAGAGACGGGAGA ATCCAGGGGTCACCGGGGCCTGGTGGACGACAGAGATGGGAGAATCCAGG GGTCCCTGGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCT GGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCTGGGGCCT GCTGGACGACAGAGATGGGAGAATCCAGGGGTCCCTGGGGCCTGCTGGAC GACAGAGACGGGAGAATCCAGGGGTCACCGGGGCCTGGTGGATGACAGAG AT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0042 a0001c0101t0001g0042	1	340	0.0029	301	c.37+ others(314): Show c.37+987_37+988insCCTGGGGCCTGGTGGATGACAGAGACGGGAGA ATCCAGGGGTCACCGGGGCCTGGTGGACGACAGAGATGGGAGAATCCAGG GGTCCCTGGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCT GGGGCCTGGTGGACGACAGAGACGGGAGAATCCAGGGGTCCCTGGGGCCT GCTGGACGACAGAGATGGGAGAATCCAGGGGTCCCTGGGGCCTGCTGGAC GACAGAGACGGGAGAATCCAGGGGTCACCGGGGCCTGGTGGATGACAGAG ATGGGAGAATCCAGGGGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATCAY_chr19_3875685_3933082	3909129	A A	AGGGAGGC others(294): Show AGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCA GTAAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAA CTCCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTAC TC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	363	0.0028	301	c.648 others(316): Show c.648-348_648-347insAGGCAGGAGAATCGCTTGAACCCAGGAGGC GGAGGTTGCAGTAAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGAC AAGAACGAAACTCCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTC TCTACTAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0223 a0001c0001t0017g0223	1	64	0.0156	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	64	0.0156	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp1 others(90): Show HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18966.hp2 NA18969.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19087.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0004t0002	a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0046 others(90): Show a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0215 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0274 a0001c0001t0002g0284 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0336 a0001c0001t0002g0346 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0360 a0001c0001t0002g0363 a0001c0001t0002g0372 a0001c0001t0002g0376 a0001c0001t0002g0380 a0001c0001t0006g0118 a0001c0001t0006g0170 a0001c0001t0006g0288 a0001c0001t0006g0369 a0001c0001t0007g0344 a0001c0001t0017g0226 a0001c0001t0024g0356 a0001c0001t0025g0203 a0001c0001t0027g0040 a0001c0001t0028g0279 a0001c0004t0002g0095	93	156	0.5962	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACAAGGGAGGCT GA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0019 a0001c0001t0042g0019	1	64	0.0156	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACAA GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(189): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0044 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0002c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(189): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0362 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0375 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0298 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0327 a0001c0001t0002g0332 a0001c0001t0002g0359 a0001c0001t0002g0378 a0001c0001t0003g0179 a0001c0001t0003g0208 a0001c0001t0004g0060 a0001c0001t0004g0138 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0252 a0001c0001t0004g0367 a0001c0001t0005g0016 a0001c0001t0005g0057 a0001c0001t0005g0079 a0001c0001t0005g0123 a0001c0001t0005g0132 a0001c0001t0005g0169 a0001c0001t0005g0308 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0007g0017 a0001c0001t0007g0024 a0001c0001t0007g0158 a0001c0001t0011g0309 a0001c0001t0011g0365 a0001c0001t0011g0377 a0001c0001t0018g0098 a0001c0001t0018g0124 a0001c0001t0021g0364 a0001c0001t0026g0004 a0001c0001t0029g0251 a0001c0001t0030g0047 a0001c0001t0031g0148 a0001c0001t0032g0136 a0001c0001t0033g0260 a0001c0001t0034g0316 a0001c0001t0035g0083 a0001c0001t0036g0185 a0001c0001t0037g0234 a0001c0001t0041g0292 a0001c0001t0044g0358 a0001c0006t0001g0207 a0001c0007t0001g0263 a0001c0008t0001g0093 a0002c0005t0001g0306	192	255	0.7529	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03834.hp1 HG00639.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0021 a0001c0001t0001g0022	2	65	0.0308	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18951.hp2 NA18946.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0331 a0001c0001t0001g0137 a0001c0001t0001g0331	2	65	0.0308	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CTATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	64	0.0156	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACTATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18989.hp1 NA19004.hp1 HG02074.hp1 NA18989.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0004 a0001c0001t0016 a0001c0003t0004	a0001c0001t0016g0130 a0001c0001t0016g0259 a0001c0003t0004g0059 a0001c0001t0016g0130 a0001c0001t0016g0259 a0001c0003t0004g0059	3	66	0.0455	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(294): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATTGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0353 a0001c0001t0002g0353	1	64	0.0156	301	c.648 others(316): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(294): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCCCCACCCCCCACCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0067 a0001c0011t0067	a0001c0011t0067g0131 a0001c0011t0067g0131	1	5	0.2000	301	c.39+ others(318): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTC CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCCACCCCCCACCCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(294): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCACCCCCCCACCCCCCAC CTCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACACCCCCACCCACC TCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCCACCTCCCCCCAC CCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCC CTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC CC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0038	a0001c0005t0038g0172 a0001c0005t0038g0172	1	5	0.2000	301	c.39+ others(318): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCACCCCCCCAC CCCCCACCTCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCCACCTC CCCCCACCCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCC CCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723294	C C	CCCCCCAC others(294): Show CCCCCCACACCCCCCCACCTCCCCCACCCCCCCCACCCCCCACCTCCCCC ACCTCCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCCACCT CCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCT CT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	252	0.0040	301	c.39+ others(318): Show c.39+32844_39+32845insACACCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCC CCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCCACCTCTCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(294): Show GATATATATCATATATATTTATATATGATATATATCATATATATTTATAT ATGATATATATCATATATAAATATATATGATATATATCATATATTTATAT ATGATATATATCATATATATTTATATATGATATATATCATATATAAATAT ATATGATATATATCATATATTTATATATGATATATATCATATATATTTAT ATATGATATATATCATATATATTTATATATGATATATATCATATATATTT ATATATGATATATATCATATATATTTATATATGATATATATCATATATAT AT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0251 a0001c0001t0029g0251	1	217	0.0046	301	c.29- others(318): Show c.29-11787_29-11786insATATATATATGATATATATCATATATAA ATATATATGATATATATCATATATAAATATATATGATATATATCATATAT AAATATATATGATATATATCATATATAAATATATATGATATATATCATAT ATAAATATATGATATATATCATATATATTTATATATGATATATATCATAT ATAAATATATATGATATATATCATATATAAATATATGATATATATCATAT ATATTTATATATGATATATATCATATATAAATATATATGATATATATCAT ATATAAATATATATGATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82971776	A A	ACAGGGGC others(294): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGT GCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCACAGGGGC TAGAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTGGT GCCGACCACACCACACCACAGGCCAGAAGGACCTGGAGCCGACACACCAC AC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp2 HG02132.hp2 others(2): Show HG00438.hp1 HG02027.hp2 HG02132.hp2 HG02165.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0002t0002 a0002c0005t0003 others(1): Show a0001c0001t0002 a0001c0002t0002 a0002c0005t0003 a0002c0009t0013	a0001c0001t0002g0059 a0001c0002t0002g0087 a0002c0005t0003g0057 others(2): Show a0001c0001t0002g0059 a0001c0002t0002g0087 a0002c0005t0003g0057 a0002c0005t0003g0058 a0002c0009t0013g0088	5	248	0.0202	301	c.460 others(318): Show c.460-6031_460-6030insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCT GGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTG TGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCA GTACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271973	C C	CTATTTTT others(294): Show CTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTTAGCCGGGATGGTCTCGATCTCCTGATCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG03540.hp1 others(1): Show HG02145.hp2 HG02451.hp2 HG03540.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0005 others(1): Show a0001c0002 a0002c0003 a0002c0005 a0003c0001	a0001c0002t0001 a0002c0003t0001 a0002c0005t0002 others(1): Show a0001c0002t0001 a0002c0003t0001 a0002c0005t0002 a0003c0001t0001	a0001c0002t0001g0059 a0002c0003t0001g0037 a0002c0005t0002g0074 others(1): Show a0001c0002t0001g0059 a0002c0003t0001g0037 a0002c0005t0002g0074 a0003c0001t0001g0007	4	74	0.0541	301	c.242 others(322): Show c.2426-96344_2426-96343insTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGATC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCATATTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(294): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01123.hp1 HG00642.hp2 HG01109.hp2 HG01123.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0153 a0003c0003t0001g0312 a0003c0003t0001g0313 a0001c0001t0001g0153 a0003c0003t0001g0312 a0003c0003t0001g0313	3	412	0.0073	301	c.121 others(320): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGCTGGAC TGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(294): Show GTGATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATG ATGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGAT GGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGGTGAT GA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 NA20300.hp1 HG02258.hp2 HG02717.hp1 NA20300.hp1	a0016 a0022 a0016 a0022	a0016c0015 a0022c0022 a0016c0015 a0022c0022	a0016c0015t0001 a0022c0022t0001 a0016c0015t0001 a0022c0022t0001	a0016c0015t0001g0044 a0016c0015t0001g0046 a0022c0022t0001g0047 a0016c0015t0001g0044 a0016c0015t0001g0046 a0022c0022t0001g0047	3	172	0.0174	301	c.963 others(318): Show c.963+3456_963+3457insTCATCACCATCACCGTCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCAT CACCATCACATCATCACCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C8orf90_chr8_141509671_141523729	141515291	C C	CATCCACC others(294): Show CATCCACCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCA TCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACC CACCCACACATTCATCCATACATCCATCCACCCACGCACCTCTCTACCCA CCCATCCATCCACCCATCTACCCACCCATTCACCCAACCACCCATCCATG CATCCACCCAGGCACCCACCCACCCATCCACCCACCCATTCACCCACCCA ACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCACCCAC CT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	43	0.0233	301	c.79+ others(314): Show c.79+521_79+522insCCCACACTTCCACCCACCCACCCACCCAACCA TCCATCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCC CACCCATCCACCCACCCACACATTCATCCATACATCCATCCACCCACGCA CCTCTCTACCCACCCATCCATCCACCCATCTACCCACCCATTCACCCAAC CACCCATCCATGCATCCACCCAGGCACCCACCCACCCATCCACCCACCCA TTCACCCACCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCAC CCACCCACCCACCTATCCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515302	C C	CCACACTT others(294): Show CCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCACCC ACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCAC ACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATCC ATCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCATCCAC CCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTACC CATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCATCTA TT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG06807.hp2 HG02683.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0071 a0001c0001t0001g0072	2	3	0.6667	301	c.79+ others(314): Show c.79+529_79+530insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTATTCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515302	C C	CCACACTT others(294): Show CCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCACCC ACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCAC ACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATCC ATCCACCCATCCACCCACCCATTCACCCAATCACCCATCCATGCATCCAC CCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTACC CATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCATCTA TT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp2 HG02615.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	3	0.6667	301	c.79+ others(314): Show c.79+529_79+530insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAATCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTATTCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515302	C C	CCACACTT others(294): Show CCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCATCC ACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCAC ACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATCC ATCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCATCCAC CCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTACC CATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCATCTA TT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03453.hp2 HG00438.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0002t0001g0075 a0001c0001t0001g0076 a0001c0002t0001g0075	2	3	0.6667	301	c.79+ others(314): Show c.79+529_79+530insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCATCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTATTCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(294): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATG TG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0006 a0010c0020t0006	a0010c0020t0006g0083 a0010c0020t0006g0083	1	103	0.0097	301	c.300 others(318): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39602010	T T	TTCCCTCC others(294): Show TTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC CTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0197 a0001c0002t0004g0197	1	192	0.0052	301	c.482 others(318): Show c.482+1360_482+1361insCTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTCCCT CCCTCCCTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTT CGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCTTCC others(294): Show CTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCCTCCCTCCCTCC TTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	22	0.0455	301	c.482 others(318): Show c.482+1379_482+1380insCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCCTCCC TCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCCTTC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(294): Show GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGG GAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGG GA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0339 a0001c0001t0036g0339	1	66	0.0152	301	c.104 others(320): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CANT1_chr17_78986716_79014764	79004406	G G	GGGAGAGG others(294): Show GGGAGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGAGAGTTAGGGAGAG GGGAGCTAGGGAGAGGACAGTTAGGGAGAGGAGTTAGGGAGGGGGGAGTT AGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGAGGTTAGGGAGG GGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGT TAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAG AGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTT AA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	389	0.0051	301	c.-14 others(320): Show c.-147+5257_-147+5258insTTAACTCCTCTCCCTAACTCCCCCCT CCCTAACTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAAC TCCCCTCTCCCTAACTCCCCTCCCTAACTCCCTTCTCCCTAACCCCCCTC TCCCTAACCCCCCTCTCCCTAACTCCCCTCCCTAACCTCCCTCTCCCTAA CTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCTCT CCCTAACTGTCCTCTCCCTAGCTCCCCTCTCCCTAACTCTCCTCTCCCTA ACTCCCCTCCCTAACCTCCCTCTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44182074	A A	ACTCACAC others(294): Show ACTCACACACACACACACTCACATACAGACACAACCACACCACACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACACAACCAC AC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	301	c.193 others(318): Show c.1938+755_1938+756insTCACACACACACACACTCACATACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACACAACCACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(294): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	52	0.0192	301	c.143 others(320): Show c.1432+1127_1432+1128insTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(294): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG02055.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0094 a0001c0001t0009g0046 a0001c0001t0001g0094 a0001c0001t0009g0046	2	346	0.0058	301	c.626 others(316): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CD5_chr11_61097489_61132852	61100156	A A	ACATCAAC others(294): Show ACATCAACATGGAGATTCACACATATCAACATGGAGATCACATTCACACA CATCAACATGGAGATCACATTCACACACATCAACATGGAGATCACAAACA CACATCAACATGGAGATCAAATTCACACATCAACATGGAGATTACACACA CATCAACATGGAGATCACATTCACACACATCAACATGGAGATCACATTCA CAACACAAACATGGAGATCACACACACATATATCAAATGGGGATTACACA CACATCAACCCCAACATGGAGATCACACACACAGCACAGAGATCACACAT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	145	0.0069	301	c.-24 others(312): Show c.-2405_-2404insCATCAACATGGAGATTCACACATATCAACATGGA GATCACATTCACACACATCAACATGGAGATCACATTCACACACATCAACA TGGAGATCACAAACACACATCAACATGGAGATCAAATTCACACATCAACA TGGAGATTACACACACATCAACATGGAGATCACATTCACACACATCAACA TGGAGATCACATTCACAACACAAACATGGAGATCACACACACATATATCA AATGGGGATTACACACACATCAACCCCAACATGGAGATCACACACACAGC ACAGAGATCACACATGT	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2332		chr11	TogoVar
CDH4_chr20_61247261_61945617	61337298	A A	ATGATGAT others(294): Show ATGATGATAATGATGGTGGTATGATGATGTGGATGGTAATGGTGATGATA ACAGTGGATAATGATGGCAATGCAAGTGATGATATTGATGATGATGGTGA TGACAGTGCTGATAATGATCATAATGGTGATGATGATGATGGTGATTATT GTAATAGTGATGACAGTGATGATGATAATGATGGTGATAAGAGTGGATAA TGATAATAATAATGATGATGGTGATTTTAATAGTGATGATGATGTTAAGA TGATTATGGTGATGATGATAGTGATGATGATGGTGATGATAACAGTGGAT AC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp2 others(42): Show HG00408.hp1 HG00423.hp2 HG00639.hp2 HG00738.hp2 HG01081.hp2 HG01255.hp2 HG01433.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0037 a0001c0001t0044 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0034 a0001c0003t0038 a0001c0003t0041 a0001c0006t0006 a0001c0007t0009 a0001c0007t0047 a0001c0010t0001 a0001c0010t0008 a0001c0013t0006 a0001c0020t0006 a0001c0021t0005 a0001c0023t0042 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0002t0022 a0002c0004t0001 a0002c0004t0033 a0002c0005t0010 a0002c0008t0001 a0002c0008t0003 a0002c0009t0032 a0002c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0032 others(42): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0002g0075 a0001c0001t0008g0013 a0001c0001t0008g0021 a0001c0001t0017g0039 a0001c0001t0018g0091 a0001c0001t0027g0019 a0001c0001t0028g0092 a0001c0001t0030g0089 a0001c0001t0037g0055 a0001c0001t0044g0085 a0001c0003t0001g0015 a0001c0003t0001g0037 a0001c0003t0002g0002 a0001c0003t0004g0054 a0001c0003t0034g0023 a0001c0003t0038g0081 a0001c0003t0041g0086 a0001c0006t0006g0036 a0001c0007t0009g0017 a0001c0007t0009g0038 a0001c0007t0009g0044 a0001c0007t0047g0065 a0001c0010t0001g0027 a0001c0010t0008g0045 a0001c0013t0006g0035 a0001c0020t0006g0093 a0001c0021t0005g0047 a0001c0023t0042g0084 a0002c0002t0003g0067 a0002c0002t0003g0069 a0002c0002t0004g0022 a0002c0002t0004g0096 a0002c0002t0012g0020 a0002c0002t0022g0105 a0002c0004t0001g0033 a0002c0004t0001g0094 a0002c0004t0033g0095 a0002c0005t0010g0068 a0002c0008t0001g0028 a0002c0008t0003g0041 a0002c0009t0032g0026 a0002c0014t0001g0090	45	90	0.5000	301	c.169 others(320): Show c.169+82365_169+82366insGATAATGATGGTGGTATGATGATGTG GATGGTAATGGTGATGATAACAGTGGATAATGATGGCAATGCAAGTGATG ATATTGATGATGATGGTGATGACAGTGCTGATAATGATCATAATGGTGAT GATGATGATGGTGATTATTGTAATAGTGATGACAGTGATGATGATAATGA TGGTGATAAGAGTGGATAATGATAATAATAATGATGATGGTGATTTTAAT AGTGATGATGATGTTAAGATGATTATGGTGATGATGATAGTGATGATGAT GGTGATGATAACAGTGGATACTGAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(294): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTC CCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCC TTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTT CC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 NA19240.hp1 HG01109.hp1 HG02257.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0032 a0002c0002t0003g0069 a0001c0001t0001g0005 a0001c0001t0001g0032 a0002c0002t0003g0069	3	5	0.6000	301	c.169 others(322): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCGCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCT TCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCT CCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCT CTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(294): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTC CCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCC TTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTT CC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02559.hp2 HG03195.hp2 others(2): Show HG01123.hp1 HG02559.hp2 HG03195.hp2 HG03225.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0003t0039 a0001c0010t0001 others(2): Show a0001c0001t0002 a0001c0003t0039 a0001c0010t0001 a0002c0002t0003 a0002c0004t0001	a0001c0001t0002g0088 a0001c0003t0039g0063 a0001c0010t0001g0027 others(2): Show a0001c0001t0002g0088 a0001c0003t0039g0063 a0001c0010t0001g0027 a0002c0002t0003g0087 a0002c0004t0001g0010	5	7	0.7143	301	c.169 others(322): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCT TCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCT CCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCT CTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(294): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATATA AAATAAATATTTATTTAATATATTAAATAAATATTTATTTTAATATATTA AATAAATATTTATTTAATATATTAAATAAATATTTATTTTAATATATTAA ATAAATATTTATTTTAATATATTAAATAAATATTTATTTTAATATATAAA AT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp1 HG03486.hp2 others(1): Show HG00639.hp1 HG03139.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0015 a0001c0002t0008g0015	4	344	0.0116	301	c.80- others(316): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTAATATATTAAATAAATATTT ATTTTAATATATTAAATAAATATTTATTTAATATATTAAATAAATATTTA TTTTAATATATTAAATAAATATTTATTTTAATATATTAAATAAATATTTA TTTTAATATATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLASP2_chr3_33491245_33723254	33681093	C C	CCAGCCTG others(294): Show CCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAG AATAAAGTAATTTCAATATAAATTTAGAAAAGATATAATGTATACATACA CACGCACACACACAAATACATATGTTAACATCACTTCTTTCTTTCATCCA TAAAATGATGTAGAATTTACTCAAATGGAATTGTTAGCCCTGGAAGTAGA AAATGAATAGATGATCAAGTCAACAAAAAGCTTATTTCTGAGACAATCTT ATTACCAGCAAATAATTGGTATTGGCAAACAACTGCTGCTAAGAGAGACA AT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	276	0.0036	301	c.644 others(318): Show c.644+2965_644+3265dupATTGTCTCTCTTAGCAGCAGTTGTTTGC CAATACCAATTATTTGCTGGTAATAAGATTGTCTCAGAAATAAGCTTTTT GTTGACTTGATCATCTATTCATTTTCTACTTCCAGGGCTAACAATTCCAT TTGAGTAAATTCTACATCATTTTATGGATGAAAGAAAGAAGTGATGTTAA CATATGTATTTGTGTGTGTGCGTGTGTATGTATACATTATATCTTTTCTA AATTTATATTGAAATTACTTTATTCTTTTTTTTTTTTTTTTTGAGATGGA GTCTCGCTCTGTCACCCAGGCTG	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	6/38			chr3	TogoVar
CLIP2_chr7_74284407_74410935	74369677	T T	TGAAACCC others(294): Show TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATAGTGGTG CTTGCCTGTAATTCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTG AACCCAGGAGGCAGAGGTTGCTGAGCCAGGCTCCCTCCACTGCACTCCAG CCTGAGTAACAGAGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAA AATCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCA AGGTGGGCGGATCACGAGGTCAGGAGCTCCAAACCAGCCTGGCTAACATG GC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	272	0.0037	301	c.138 others(320): Show c.1381-3057_1381-2757dupAAAATCCAGGCACGGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGG AGCTCCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAA TACAAAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTC GGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTG AGCCAGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCT GCCTCAAAAAAAAAAAAAAAAAAAA	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CMPK1_chr1_47328790_47383839	47359371	T T	TAAGAAAC others(294): Show TAAGAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC TGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02257.hp2 HG02622.hp1 others(1): Show HG01069.hp1 HG02257.hp2 HG02622.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0005g0117 a0001c0001t0005g0122 a0001c0004t0001g0096 others(1): Show a0001c0001t0005g0117 a0001c0001t0005g0122 a0001c0004t0001g0096 a0001c0004t0001g0098	4	338	0.0118	301	c.172 others(318): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAGAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47359374	G G	GAAACCTT others(294): Show GAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG03486.hp2 HG02145.hp2 HG02717.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0317 a0001c0001t0001g0023 a0001c0001t0001g0317	3	359	0.0084	301	c.172 others(318): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNBD2_chr20_35963590_36035700	35975467	A A	ATTTTTTT others(294): Show ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTTTTTTTTTATTTT TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTA AT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	149	0.0067	301	c.190 others(316): Show c.190-476_190-475insTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCT TTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCAGCTAATTTTTTT	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT3_chr19_54132762_54160681	54133800	C C	CCCTCCCT others(294): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	204	0.0049	301	c.-42 others(312): Show c.-4244_-4243insCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3961		chr19	TogoVar

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