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
CHL1_chr3_191763_414417	261929	C C	CAGATCTA others(308): Show CAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0237 a0004c0004t0008g0237	1	290	0.0035	315	c.-95 others(334): Show c.-95+17253_-95+17254insTACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAG ATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTA CATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAG TACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTC ACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGG GCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CKMT1A_chr15_43688859_43704222	43691970	A A	ACAAGTGA others(308): Show ACAAGTGACCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCAAGACGGGCGGATCACGAGGTCAGGAGCTCGAGACCATCCTGGCTA ATACGGTGAAACCCCATCTCTACTAAAAATACGAAAAACAATTAGCCAGG CATGGTGGCGGGTGCCTGTAGTGCCAGCTACTTGGGAGACTGAGGCAGGA GAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCCAGATCGCGCC ACTGCACTACAGCCTAGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAGA AAAAGAAAAAAGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(91): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18978.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp1 NA19063.hp2 NA19072.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0003g0002	94	392	0.2398	315	c.-20 others(326): Show c.-2081_-2080insCAAGTGACCAGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGCTCG AGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAAATACGAA AAACAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTGCCAGCTACTTGG GAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTG AGCCCAGATCGCGCCACTGCACTACAGCCTAGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAGAAAAAGAAAAAAGCGCG	CKMT1A	ENSG00000223572.10	transcript	ENST00000413453.7	protein_coding		1888		chr15	TogoVar
CKMT1B_chr15_43589027_43604406	43592138	A A	ACAAGTGA others(308): Show ACAAGTGACCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCAAGACGGGCGGATCACGAGGTCAGGAGCTCGAGACCATCCTGGCTA ATACGGTGAAACCCCATCTCTACTAAAAATACGAAAAACAATTAGCCAGG CATGGTGGCGGGTGCCTGTAGTGCCAGCTACTTGGGAGACTGAGGCAGGA GAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCCAGATCGCGCC ACTGCACTACAGCCTAGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAGA AAAAGAAAAAAGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA19081.hp1 HG01167.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	348	0.0058	315	c.-20 others(326): Show c.-2081_-2080insCAAGTGACCAGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGCTCG AGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAAATACGAA AAACAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTGCCAGCTACTTGG GAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTG AGCCCAGATCGCGCCACTGCACTACAGCCTAGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAGAAAAAGAAAAAAGCGCG	CKMT1B	ENSG00000237289.10	transcript	ENST00000441322.6	protein_coding		1888		chr15	TogoVar
CLEC16A_chr16_10939564_11187186	10992535	T T	TAAAAAAT others(308): Show TAAAAAATAAAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(62): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02809.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18960.hp2 NA18964.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0150 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0234 a0001c0001t0002g0178 a0001c0001t0003g0167 a0001c0001t0003g0202 a0001c0001t0004g0148 a0001c0001t0004g0186 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0013g0187 a0001c0001t0013g0188 a0001c0001t0015g0184 a0001c0001t0015g0185 a0001c0001t0020g0179 a0001c0001t0022g0176 a0001c0001t0028g0198 a0001c0001t0031g0154 a0001c0001t0033g0175 a0001c0001t0035g0182 a0001c0010t0001g0163 a0001c0010t0001g0203	65	274	0.2372	315	c.107 others(334): Show c.1071+9560_1071+9561insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGCGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAATAAAAAAATAAAAAAGAA	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLTCL1_chr22_19174473_19296719	19251180	T T	TTGCACTT others(308): Show TTGCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0140 a0011c0015t0001g0140	1	346	0.0029	315	c.519 others(332): Show c.519+2778_519+2779insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	3/32			chr22	TogoVar
CMSS1_chr3_99812862_100186732	99936540	T T	TAATTTTT others(308): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19007.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0077 a0001c0001t0001g0069 a0001c0001t0002g0077	2	232	0.0086	315	c.64+ others(334): Show c.64+118512_64+118513insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAATTTTTGTATTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136898	A A	ATATATAA others(308): Show ATATATAAATTATATATTATATTTATATTATATATAAATTATATATTTAT ATTATATATAAATTATATATTTATATTATATATAAATATATATATTTATA TAAAATATAAATATATATATTATATATAATATAAATATATATATTTATAT ATGTATATTTATATATAATATAAATTATATAATTTATATTATATATAAAT TATATAATTTATATTATATATAAATATATATATTTATATTCTATATAAAT TATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAAT ATATATATTTATATTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp1 others(15): Show HG00558.hp1 HG00558.hp2 HG00609.hp1 HG01106.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01515.hp2 HG02015.hp1 HG02257.hp2 HG03579.hp2 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18988.hp1 NA19062.hp1 NA19081.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0030 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0138	18	152	0.1184	315	c.432 others(334): Show c.432-69067_432-69066insATATATAAATTATATATTTATATTAT ATATAAATTATATATTTATATTATATATAAATATATATATTTATATAAAA TATAAATATATATATTATATATAATATAAATATATATATTTATATATGTA TATTTATATATAATATAAATTATATAATTTATATTATATATAAATTATAT AATTTATATTATATATAAATATATATATTTATATTCTATATAAATTATAT AATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATATATA TATTTATATTCTATATAAATTATATATTATATTTATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136898	A A	ATATATAA others(308): Show ATATATAAATTATATATTATATTTATATTATATATAAATTATATATTTAT ATTATATATAAATTATATATTTATATTATATATAAATATATATATTTATA TAAAATATAAATATATATATTATATATAATATAAATATATATATTTATAT ATGTATATTTATATATAATATAAATTATATAATTTATATTCTATATAAAT TATATAATTTATATTATATATAAATATATATATTTATATTCTATATAAAT TATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAAT ATATATATTTATATTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	152	0.0066	315	c.432 others(334): Show c.432-69067_432-69066insATATATAAATTATATATTTATATTAT ATATAAATTATATATTTATATTATATATAAATATATATATTTATATAAAA TATAAATATATATATTATATATAATATAAATATATATATTTATATATGTA TATTTATATATAATATAAATTATATAATTTATATTCTATATAAATTATAT AATTTATATTATATATAAATATATATATTTATATTCTATATAAATTATAT AATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATATATA TATTTATATTCTATATAAATTATATATTATATTTATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136898	A A	ATATATAA others(308): Show ATATATAAATTATATATTATATTTATATTATATATAAATTATATATTTAT ATTATATATAAATTATATATTTATATTATATATAAATATATATATTTATA TAAAATATAAATATATATATTATATATAATATAAATATATATATTTATAT ATGTATATTTATATTATATATAAATTATATAATTTATATTATATATAAAT TATATAATTTATATTATATATAAATATATATATTTATATTCTATATAAAT TATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAAT ATATATATTTATATTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	152	0.0066	315	c.432 others(334): Show c.432-69067_432-69066insATATATAAATTATATATTTATATTAT ATATAAATTATATATTTATATTATATATAAATATATATATTTATATAAAA TATAAATATATATATTATATATAATATAAATATATATATTTATATATGTA TATTTATATTATATATAAATTATATAATTTATATTATATATAAATTATAT AATTTATATTATATATAAATATATATATTTATATTCTATATAAATTATAT AATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATATATA TATTTATATTCTATATAAATTATATATTATATTTATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136898	A A	ATATATAA others(308): Show ATATATAAATTATATATTATATTTATATTATATATAAATTATATATTTAT ATTTTATATAAATTATATATTTATATTATATATAAATATATATATTTATA TAAAATATAAATATATATATTATATATAATATAAATATATATATTTATAT ATGTATATTTATATATAATATAAATTATATAATTTATATTATATATAAAT TATATAATTTATATTATATATAAATATATATATTTATATTCTATATAAAT TATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAAT ATATATATTTATATTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp2 HG01109.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0050 a0001c0001t0001g0055	2	152	0.0132	315	c.432 others(334): Show c.432-69067_432-69066insATATATAAATTATATATTTATATTTT ATATAAATTATATATTTATATTATATATAAATATATATATTTATATAAAA TATAAATATATATATTATATATAATATAAATATATATATTTATATATGTA TATTTATATATAATATAAATTATATAATTTATATTATATATAAATTATAT AATTTATATTATATATAAATATATATATTTATATTCTATATAAATTATAT AATTTATATTCTATATAAATTATATAATTTATATTCTATATAAATATATA TATTTATATTCTATATAAATTATATATTATATTTATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT2_chr12_70238433_70359993	70321792	C C	CAAGAAAG others(308): Show CAAGAAAGGGAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	280	0.0036	315	c.238 others(332): Show c.238+2443_238+2444insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAGAAAGGGAGTTTG	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54134145	C C	CCTCTCCA others(308): Show CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	223	0.0045	315	c.-38 others(326): Show c.-3899_-3898insCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3616		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54134289	C C	CTCCACCT others(308): Show CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCCAC CTCCCCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	223	0.0045	315	c.-37 others(326): Show c.-3755_-3754insTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCCACCTCCCCTCTCTCTCTT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3472		chr19	TogoVar
CNTNAP5_chr2_124020287_124926219	124467314	C C	CAAGAGGA others(308): Show CAAGAGGAAAAGCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACAGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	64	0.0156	315	c.919 others(332): Show c.919-7412_919-7411insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC AGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAGCC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA4_chr11_73867667_73881846	73872336	T T	TCTTCTCC others(308): Show TCTTCTCCCCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG02886.hp1 others(1): Show HG01106.hp1 HG02809.hp1 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	4	394	0.0102	315	c.77 others(324): Show c.778_*779insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAGAAAAGGGGAGAAG	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		330		chr11	TogoVar
COL25A1_chr4_108803725_109307658	109079795	T T	TAAGAGTT others(308): Show TAAGAGTTCAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	130	0.0077	315	c.368 others(334): Show c.368-29617_368-29616insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGCTTGAACTCTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109217059	T T	TCTCTTTT others(308): Show TCTCTTTTCTTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03704.hp2 HG03710.hp2 others(1): Show HG00558.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0007 a0001c0004t0004 a0001c0001t0001 a0001c0002t0007 a0001c0004t0004	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0002t0007g0115 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0002t0007g0115 a0001c0004t0004g0027	4	130	0.0308	315	c.367 others(334): Show c.367+83523_367+83524insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAATTAAGAAAAGAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(308): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	376	0.0027	315	c.637 others(330): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(308): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	376	0.0027	315	c.637 others(330): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989142	T T	TATTCCTA others(308): Show TATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19077.hp1 NA19057.hp2 NA19077.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0314 a0007c0010t0001g0316 a0007c0010t0001g0314 a0007c0010t0001g0316	2	376	0.0053	315	c.637 others(330): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COPS3_chr17_17241616_17286246	17252332	G G	GCAGATAA others(308): Show GCAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTG GTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCC AGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACG CTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGC TGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGA TAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTG TGGGCTCTCCTGGGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	352	0.0028	315	c.102 others(334): Show c.1023+2526_1023+2527insTACCCAGGAGAGCCCACACACCAAAG CGTTATCTGTACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCA GGACAGCCCACACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACAC CAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGT ACCCAGGACAGCCCACACACCAAAGCGTTATCTGTACCCTGGACAGCCCA CACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTA TCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTG	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(308): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGC TCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG00738.hp1 others(14): Show HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG02109.hp1 HG03041.hp1 HG03195.hp2 HG03540.hp1 HG03710.hp1 NA18954.hp2 NA19055.hp1 NA19084.hp1 NA20300.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0104 a0002c0002t0002g0008 a0002c0002t0002g0033 others(11): Show a0002c0002t0001g0104 a0002c0002t0002g0008 a0002c0002t0002g0033 a0002c0002t0002g0046 a0002c0002t0002g0105 a0002c0002t0002g0109 a0002c0002t0002g0118 a0002c0002t0002g0121 a0002c0002t0002g0125 a0002c0002t0002g0130 a0002c0002t0002g0150 a0002c0002t0002g0190 a0002c0002t0002g0196 a0002c0002t0002g0220	17	330	0.0515	315	c.591 others(330): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(308): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGC TCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0122 a0002c0007t0005g0123 a0002c0007t0005g0122 a0002c0007t0005g0123	2	330	0.0061	315	c.591 others(330): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACACCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587887	G G	GCGTGTCA others(308): Show GCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGAAACACGGCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	348	0.0029	315	c.928 others(330): Show c.928-773_928-772insAACACGGCCCCCGTGTTACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGAAACACGGCCCCCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924235	C C	CAGCCCCC others(308): Show CAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGG CCCCCACACTAACCCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	350	0.0029	315	c.489 others(332): Show c.489-1489_489-1488insAGCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCA CACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAG CCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGTCCCCCACACTAACCCGGCCCCCACACTAACCCG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924811	C C	CCCCCCAC others(308): Show CCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCTCACACTGACCCAGCCCCCACACTG ACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCC CACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0022 a0022	a0022c0077 a0022c0077	a0022c0077t0001 a0022c0077t0001	a0022c0077t0001g0111 a0022c0077t0001g0111	1	350	0.0029	315	c.489 others(330): Show c.489-909_489-908insCACACTAACCCGGCCCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCTCACACTGAC CCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAA CCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAATCCGGCCCCCA CACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCC CACACTAACCCAGTCCCCACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240976264	T T	TCCCAGGC others(308): Show TCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTTATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTC AAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGG GTAGGAGCCTCAGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18963.hp2 HG00323.hp1 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0336 a0002c0011t0002g0243 a0002c0002t0002g0336 a0002c0011t0002g0243	2	350	0.0057	315	c.440 others(334): Show c.4402-6596_4402-6595insAGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTTAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTG CTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980265	A A	AGGAGCCC others(308): Show AGGAGCCCAGGCTCATCCCTGCTCGGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCGGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTC TGGGGTAGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0022 a0022	a0022c0091 a0022c0091	a0022c0091t0001 a0022c0091t0001	a0022c0091t0001g0133 a0022c0091t0001g0133	1	350	0.0029	315	c.440 others(334): Show c.4402-2592_4402-2591insGGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCGGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTC TGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980381	T T	TCTCTGGG others(308): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTGTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0135 a0014c0014t0001g0135	1	350	0.0029	315	c.440 others(334): Show c.4402-2477_4402-2476insTCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTGTCTGGGG TAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(308): Show TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0003 a0015c0017t0003	a0015c0017t0003g0053 a0015c0017t0003g0053	1	272	0.0037	315	c.173 others(332): Show c.173+4608_173+4609insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCATGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461481	A A	AGGACCTA others(308): Show AGGACCTATCCACACAGCAGCCACATTCACCATGGGGGCTGTATCCGCAC AGCACACACATTCACCGTGGAGGGCGTATCCGCACAGCGGCCACATTCAC CATGGAGGGCCTATCCACACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGC GTATCCGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAG CCACATTCACCATGGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0009 a0012c0019t0009	a0012c0019t0009g0055 a0012c0019t0009g0055	1	238	0.0042	315	c.635 others(332): Show c.635-2840_635-2839insCCCATGGTGAATGTGGCTGCTGTGCGGA TACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATACGCCCCCCACGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGTGGATAGGCCCTCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCTCCACGGTGAATGTGTGTGCTGTGCGGATACAG CCCCCATGGTGAATGTGGCTGCTGTGTGGATAGGTCC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(308): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCAT GGAGGGCCTATCCGCACAGCAGCCACATTCACCATGGAGGGCCTATCCGC ACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTC ACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTA TCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCA CATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGG GCGTATCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0007 a0003c0005t0004g0007	1	238	0.0042	315	c.635 others(332): Show c.635-2858_635-2857insCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGC GGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCAT GGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGC TGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATAGGCCC TCCATGGTGAATGTGGCTGCTGTGCGGATAGGCCCTCCATGGTGAATGTG GCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461622	G G	GGGCGTAT others(308): Show GGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACA GCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACC ATGGAGGGCGTATCCGCACAGCGGCCACATTCACCATGGATGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCG TATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGC CACATTCACCATGGAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0042 a0002c0012t0042	a0002c0012t0042g0091 a0002c0012t0042g0091	1	238	0.0042	315	c.635 others(332): Show c.635-2981_635-2980insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCATC CATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCCATGGTGAATGTGTG TGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACG CCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461687	A A	ATGGGGGG others(308): Show ATGGGGGGCCTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCG TATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGC CACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGG GGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCACA GCGGCCACATTCACCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0188 a0002c0003t0011g0188	1	238	0.0042	315	c.635 others(332): Show c.635-3046_635-3045insCGGTGAATGTGGCCGCTGTGCGGATACG CCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAAT GTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCC CATGGTGAATGTGGCCGCTGTGCGGATAGGCCCCCCA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(308): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACATTCAC CATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAGCCACA TTCACCATGGATGGCGTATCCGCACAGCAGCCACATTCACCATGGGGGGC GTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0030 a0011c0020t0030	a0011c0020t0030g0182 a0011c0020t0030g0182	1	238	0.0042	315	c.635 others(332): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCGGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATACGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(308): Show CCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATCCGCAC AGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACATTCAC CATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAGCCACA TTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGGGGGGC GTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 NA18952.hp2 others(1): Show HG02976.hp2 HG03195.hp2 NA18952.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0010t0018 a0001c0001t0001 a0001c0001t0005 a0001c0010t0018	a0001c0001t0001g0160 a0001c0001t0005g0187 a0001c0010t0018g0026 others(1): Show a0001c0001t0001g0160 a0001c0001t0005g0187 a0001c0010t0018g0026 a0001c0010t0018g0191	4	238	0.0168	315	c.635 others(332): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461779	A A	AGCCACAT others(308): Show AGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGT GGGGGGCGTATCCGCACAGCGGCCACATTTACCATGGATGGCGTATCCGC ACAGCAGCCACATTCACCATGGGGGGCGTATCCGCACAGCACACACATTC ACCATGGAGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTA TCCGCACAGCAGCCACATTCACCATGGATGGCGTATCTGCACAGCAGCCA CATTCACCATGGGGGGCGTATCCACACAGCACACACATTCACCATGGAGG GCATATCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	238	0.0042	315	c.635 others(332): Show c.635-3138_635-3137insCGCTGTGCGGATATGCCCTCCATGGTGA ATGTGTGTGCTGTGTGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGC AGATACGCCATCCATGGTGAATGTGGCTGCTGTGCGGATACGCCCCCCAT GGTGAATGTGGCCGCTGTGCGGATACGCCCTCCATGGTGAATGTGTGTGC TGTGCGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGCGGATACGCCA TCCATGGTAAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTG GCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CTNNA3_chr10_65907523_67701195	66484231	T T	TATTTCAG others(308): Show TATTTCAGTTTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAT TAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0003 a0001c0001t0016g0003	1	46	0.0217	315	c.153 others(336): Show c.1531+36385_1531+36386insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGTCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGTCCGCCACTACGCCCGGCTAATTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCATAAACTGAAAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(308): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01975.hp2 HG02109.hp1 others(6): Show HG01433.hp1 HG01975.hp2 HG02109.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 NA18985.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0010 a0003c0006 others(1): Show a0001c0002 a0001c0010 a0003c0006 a0003c0013	a0001c0002t0002 a0001c0010t0017 a0003c0006t0011 others(2): Show a0001c0002t0002 a0001c0010t0017 a0003c0006t0011 a0003c0006t0016 a0003c0013t0016	a0001c0002t0002g0064 a0001c0002t0002g0113 a0001c0010t0017g0034 others(6): Show a0001c0002t0002g0064 a0001c0002t0002g0113 a0001c0010t0017g0034 a0001c0010t0017g0035 a0003c0006t0011g0137 a0003c0006t0011g0151 a0003c0006t0011g0154 a0003c0006t0016g0014 a0003c0013t0016g0013	9	324	0.0278	315	c.330 others(330): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(308): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02922.hp2 others(5): Show HG02257.hp2 HG02622.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0008 a0001c0005t0026 a0001c0009t0012 a0001c0005t0008 a0001c0005t0026 a0001c0009t0012	a0001c0005t0008g0132 a0001c0005t0008g0133 a0001c0005t0008g0296 others(5): Show a0001c0005t0008g0132 a0001c0005t0008g0133 a0001c0005t0008g0296 a0001c0005t0008g0299 a0001c0005t0026g0298 a0001c0009t0012g0284 a0001c0009t0012g0285 a0001c0009t0012g0286	8	324	0.0247	315	c.330 others(330): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CUEDC1_chr17_57856243_57960412	57915232	T T	TAGAAAGT others(308): Show TAGAAAGTTCATTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02486.hp1 HG00639.hp2 HG01891.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0005 a0001c0002t0010 a0001c0007t0005 a0001c0001t0005 a0001c0002t0010 a0001c0007t0005	a0001c0001t0005g0047 a0001c0002t0010g0046 a0001c0007t0005g0012 a0001c0001t0005g0047 a0001c0002t0010g0046 a0001c0007t0005g0012	3	212	0.0142	315	c.-31 others(336): Show c.-315-29354_-315-29353insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACT ACAGGCGTGAGCCACCGCGCCCGGCCGGAAATGAACTTTCT	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(308): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACC ACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCAC CTGTCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	396	0.0025	315	c.513 others(330): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTA TTACTACTGCCACCACCACCTGTCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(308): Show GTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACC GCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTA CTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	396	0.0025	315	c.513 others(330): Show c.513-927_513-926insTCACCACTACCTGCCCACCACCATTACTGC TGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTAT TACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCAC TACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(308): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	315	c.-15 others(326): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CYP51A1_chr7_92107153_92139477	92122220	G G	GAAAGAAA others(308): Show GAAAGAAAAGCACAGATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG02717.hp2 others(6): Show HG00738.hp1 HG02109.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0010 a0001c0002t0002g0047 a0001c0002t0012g0124 a0001c0002t0002g0010 a0001c0002t0002g0047 a0001c0002t0012g0124	9	392	0.0230	315	c.108 others(332): Show c.1086+899_1086+900insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGATCTGTGCTTTTCTTT	CYP51A1	ENSG00000001630.18	transcript	ENST00000003100.13	protein_coding	7/9			chr7	TogoVar
CYP51A1_chr7_92107153_92139477	92122220	G G	GAAAGAAA others(308): Show GAAAGAAAAGCACAGATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACTCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	392	0.0026	315	c.108 others(332): Show c.1086+899_1086+900insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGATCTGTGCTTTTCTTT	CYP51A1	ENSG00000001630.18	transcript	ENST00000003100.13	protein_coding	7/9			chr7	TogoVar
CYSLTR2_chr13_48648929_48716226	48703805	G G	GTTAATTC others(308): Show GTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	318	0.0031	315	c.-1- others(330): Show c.-1-3003_-1-3002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTTAATTCTT	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(308): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03130.hp1 HG02896.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0089 a0001c0008t0001g0343 a0001c0001t0001g0089 a0001c0008t0001g0343	2	416	0.0048	315	c.500 others(332): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCUN1D4_chr4_51838153_51921837	51897576	T T	TAAAAATA others(308): Show TAAAAATAACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	262	0.0038	315	c.507 others(332): Show c.507-1682_507-1681insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAACCAA	DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(308): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	367	0.0027	315	c.-42 others(326): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar

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