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
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(491): Show ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGGATT AATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCA TCACCCCTGGATTAATCCCCCCATCACCCCTGGTTTAATCCCCCCATCAC CCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCGCCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0086 a0002c0021t0002g0086	1	159	0.0063	498	c.141 others(517): Show c.1418-5719_1418-5718insTCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCC CCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCAC CCCTGGTTTAATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCGCCCCAGGATT AATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCAGCCCTGGATTAATACTCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(491): Show ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCGATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGGATT AATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCA TCACCCCTGGATTAATCCCCCCATCACCCCTGGTTTAATCCCCCCATCAC CCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCGCCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0045 a0001c0011t0001g0045	1	159	0.0063	498	c.141 others(517): Show c.1418-5719_1418-5718insTCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCGATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCC CCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCAC CCCTGGTTTAATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCGCCCCAGGATT AATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCAGCCCTGGATTAATACTCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TSPAN8_chr12_71120096_71162999	71139972	C C	CCTTCATT others(491): Show CCTTCATTCATTCATTCATTCATTCATACATTCAACATTACTGCCATACC TCTATGTGTCAGATATTGTGCGAAATAATACATAAGACCTTTAGAACCTA CTAGGGAAGGTTAATAAGTAAGCAAATAGCTACAGTGGGAGTGGCCCCAG AAGCAAAGGGCAAGACAGGGGATGGGATTTTCAAACCAGGGCAGAAGTGA ATAAGGTATTTGTAAGAGTGAGGGTAGGAAAAGCTTTCCGGAAAGACAAC GTGGCAGTACAGTGCTGGTGTGTTTGGGAACTGAGAAGCCTTGGGTATGG CAGGAGACCGGCAAAACTGTTTCCAGTAAATGATGGAAGATGAATCCAAG TGTGGGTTGGGGTAAAATCATAGGTGTTCTACATGCCATGCTAAAAAAAA AGTTTAAATGAATGAGATAATCAGAATTATCTCTTAGAGAGCATTGAGGA GGATAAATTGGGTTTGGATAATTCACAGGCATTCACTTAAAAAGTACAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp1 HG01934.hp1 others(33): Show HG01257.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02165.hp1 HG02698.hp1 HG03654.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp2 NA18998.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19063.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA19091.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0006 a0003c0004t0001g0010 others(11): Show a0003c0004t0001g0001 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0041 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0133 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0146 a0003c0004t0001g0149 a0003c0004t0001g0264	36	319	0.1129	498	c.124 others(513): Show c.124-125_124-124insTTGTACTTTTTAAGTGAATGCCTGTGAATT ATCCAAACCCAATTTATCCTCCTCAATGCTCTCTAAGAGATAATTCTGAT TATCTCATTCATTTAAACTTTTTTTTTAGCATGGCATGTAGAACACCTAT GATTTTACCCCAACCCACACTTGGATTCATCTTCCATCATTTACTGGAAA CAGTTTTGCCGGTCTCCTGCCATACCCAAGGCTTCTCAGTTCCCAAACAC ACCAGCACTGTACTGCCACGTTGTCTTTCCGGAAAGCTTTTCCTACCCTC ACTCTTACAAATACCTTATTCACTTCTGCCCTGGTTTGAAAATCCCATCC CCTGTCTTGCCCTTTGCTTCTGGGGCCACTCCCACTGTAGCTATTTGCTT ACTTATTAACCTTCCCTAGTAGGTTCTAAAGGTCTTATGTATTATTTCGC ACAATATCTGACACATAGAGGTATGGCAGTAATGTTGAATGTATGAATGA ATGAATGAATGAATGAAG	TSPAN8	ENSG00000127324.9	transcript	ENST00000247829.8	protein_coding	3/8			chr12	TogoVar
TSPAN8_chr12_71120096_71162999	71139972	C C	CCTTCATT others(491): Show CCTTCATTCATTCATTCATTCATTCATACATTCAACATTACTGCCATACC TCTATGTGTCAGATATTGTGCGAAATAATACATAAGACCTTTAGAACCTA CTAGGGAAGGTTAATAAGTAAGCAAATAGCTACAGTGGGAGTGGCCCCAG AAGCAAAGGGCAAGACAGGGGATGGGATTTTCAAACCAGGGCAGAAGTGA ATAAGGTATTTGTATGAGTGAGGGTAGGAAAAGCTTTCCGGAAAGACAAC GTGGCAGTACAGTGCTGGTGTGTTTGGGAACTGAGAAGCCTTGGGTATGG CAGGAGACCGGCAAAACTGTTTCCAGTAAATGATGGAAGATGAATCCAAG TGTGGGTTGGGGTAAAATCATAGGTGTTCTACATGCCATGCTAAAAAAAA AGTTTAAATGAATGAGATAATCAGAATTATCTCTTAGAGAGCATTGAGGA GGATAAATTGGGTTTGGATAATTCACAGGCATTCACTTAAAAAGTACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18971.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 others(46): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0018 a0001c0001t0002g0203 a0001c0001t0003g0026 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0004g0057	80	363	0.2204	498	c.124 others(513): Show c.124-125_124-124insTTGTACTTTTTAAGTGAATGCCTGTGAATT ATCCAAACCCAATTTATCCTCCTCAATGCTCTCTAAGAGATAATTCTGAT TATCTCATTCATTTAAACTTTTTTTTTAGCATGGCATGTAGAACACCTAT GATTTTACCCCAACCCACACTTGGATTCATCTTCCATCATTTACTGGAAA CAGTTTTGCCGGTCTCCTGCCATACCCAAGGCTTCTCAGTTCCCAAACAC ACCAGCACTGTACTGCCACGTTGTCTTTCCGGAAAGCTTTTCCTACCCTC ACTCATACAAATACCTTATTCACTTCTGCCCTGGTTTGAAAATCCCATCC CCTGTCTTGCCCTTTGCTTCTGGGGCCACTCCCACTGTAGCTATTTGCTT ACTTATTAACCTTCCCTAGTAGGTTCTAAAGGTCTTATGTATTATTTCGC ACAATATCTGACACATAGAGGTATGGCAGTAATGTTGAATGTATGAATGA ATGAATGAATGAATGAAG	TSPAN8	ENSG00000127324.9	transcript	ENST00000247829.8	protein_coding	3/8			chr12	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(491): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	8	0.1250	498	c.657 others(513): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCC CCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(491): Show ACACACCACACAACCACACACCCACACACACCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCCCACACCACCCCATAC ACCCACACACCACACCCCACACACACCACACCCCACACACACACCCAAAC CACACACACCACCACACCCACACACCACCCTACACCCACACACACGACCA CACCCCAGCACACCCACACACCACTACCACACCACACACCACACCCAACA CACACCACACCCCACACACACACACCCCCACACACACCACACACCCCCCA CACACCAACCCACACACACCACACACCCCCACACACCACACACCATACAC ACCACACCCCACACACACCACACCCCCACACACCACACCCCACACACCAC ACCCCACACACACCACACACCACACACACCACACCCATACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACCACACACCC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	290	0.0034	498	c.35 others(517): Show c.35+21398_*35+21399insCACACAACCACACACCCACACACACC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCCCACACCACCCCATACACCCACACACCACACCCCACACACACCACACC CCACACACACACCCAAACCACACACACCACCACACCCACACACCACCCTA CACCCACACACACGACCACACCCCAGCACACCCACACACCACTACCACAC CACACACCACACCCAACACACACCACACCCCACACACACACACCCCCACA CACACCACACACCCCCCACACACCAACCCACACACACCACACACCCCCAC ACACCACACACCATACACACCACACCCCACACACACCACACCCCCACACA CCACACCCCACACACCACACCCCACACACACCACACACCACACACACCAC ACCCATACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACCACACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBOX5_chr20_3102573_3164865	3125264	G G	GCCCCGTC others(491): Show GCCCCGTCTGGGAGGTGAGGAGCGCCTCTGCCCAGCCGCCCATCATCTGG GAAGTGAGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGGTGAGGAGCG CCTCTGCCCAGCTGCCCCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCC GCCCATCATCTGGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGA GAAGTGAGGAGTACCTCTGCCCGGCCGCCCATCATCTGAGAAGTGAGGAG TGCCTCTGCCCGGCCACCCATCGTCTGGGAGGTGAGGAGCACCTCTGCCC GGCCGCCCATCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCGCCCATC GTCTGGGAGGTGAGGAGTGCCTCTGCCCGGCCACCCCGTCTGAGAAGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGTGCCTC TGCCTGGCCGCCCATCATCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	382	0.0026	498	c.-41 others(515): Show c.-41-2356_-41-1859dupTGGCCGGGCAGAGGCGCTCCTCACCTCC CAGATGATGGGCGGCCAGGCAGAGGCACTCCTCACTTCCCAGACGGGGCG GCTGCCGGGCAGAGGCGCTCCTCACTTCTCAGACGGGGTGGCCGGGCAGA GGCACTCCTCACCTCCCAGACGATGGGCGGCCGGGCAGAGGCGCTCCTCA CCTCCCAGACGATGGGCGGCCGGGCAGAGGTGCTCCTCACCTCCCAGACG ATGGGTGGCCGGGCAGAGGCACTCCTCACTTCTCAGATGATGGGCGGCCG GGCAGAGGTACTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGGCGCTC CTCACTTCCCAGATGATGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCA GACGGGGCAGCTGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCG GGCAGAGGCGCTCCTCACTTCCCAGATGATGGGCGGCTGGGCAGAGGCGC TCCTCACCTCCCAGACGGGG	UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding	1/4			chr20	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(491): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0233 a0001c0001t0054g0233	1	105	0.0095	498	c.82+ others(513): Show c.82+5644_82+5645insTATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX3B_chrX_8459830_8471510	8467067	A A	AGGGAGGG others(491): Show AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGAAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0011	1	260	0.0038	498	c.68 others(507): Show c.684_*685insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGAAGGAAG AGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		558		chrX	TogoVar
VCX_chrX_7838171_7849143	7844561	A A	AAGAGGTG others(491): Show AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGCGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGAGGAAGAGGAGGTGTGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0001 a0002c0002t0015g0001	1	332	0.0030	498	c.54 others(507): Show c.545_*546insAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAGGAAGAGG AGGTGTGTGGGG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		419		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(491): Show TCCTCTCCCCTCCCCCTCCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCCTCCC CTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCC CCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTC TCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCTCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0083 a0009c0011t0001g0083	1	33	0.0303	498	c.53- others(511): Show c.53-442_53-441insCCCCTCCCCCATCCTCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCC CCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCC CCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTC CCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCC CTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCTCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241674897	T T	TCCTTCTT others(491): Show TCCTTCTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCC TTCCCTCCCTCCTTCCTTCTTTCCTTCCTTTTCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTCC CTCCCTCCTTCCTTCCTCTCTCCTCCCTTCTTTCTTTCTTTCCTTCTTTC CTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCCTTCCCTCCCT CCTTCCTTCTTTCCTTCCTTTTCTCCCTCCCTCCTTCCTGCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19240.hp1 NA19056.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0011 a0008c0007 a0001c0011 a0008c0007	a0001c0011t0003 a0008c0007t0002 a0001c0011t0003 a0008c0007t0002	a0001c0011t0003g0004 a0008c0007t0002g0074 a0001c0011t0003g0004 a0008c0007t0002g0074	2	289	0.0069	498	c.483 others(513): Show c.483+150_483+151insCCTTCTTTCCTCCCTTTCTCCCTCCCTCTC TTCCTTCCTTTCTTCTTCCTTCCCTCCCTCCTTCCTTCTTTCCTTCCTTT TCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCTTTCCTTCCTCCCTCCCTCCTTCCTTCCTCTCTCCTCCCTTCT TTCTTTCTTTCCTTCTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTT TCTTCTTCCTTCCCTCCCTCCTTCCTTCTTTCCTTCCTTTTCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCT CCTTCCTTCCTCCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(491): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATATGTATATATGTATATATATACATGTATA CATATGTATATATGTATACATATGTATATATGTATATATGTATACATATG TATATATGTATATATGTATAAATATACATATGTATATATATGTATATATG TATACATATGTATATATACATATGTATATATATGTATATATGTATACATA TGTATATATACATATGTATATATATGTATACATATGCATATATACATATG TATATATATGTATATATGTATACATATGTATATATGCATATATATACATA TGTATATATGCATATATATACATATGTGTATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19058.hp1 HG00609.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	94	0.0213	498	c.-15 others(519): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATATGTATATATGTATATATATACAT GTATACATATGTATATATGTATACATATGTATATATGTATATATGTATAC ATATGTATATATGTATATATGTATAAATATACATATGTATATATATGTAT ATATGTATACATATGTATATATACATATGTATATATATGTATATATGTAT ACATATGTATATATACATATGTATATATATGTATACATATGCATATATAC ATATGTATATATATGTATATATGTATACATATGTATATATGCATATATAT ACATATGTATATATGCATATATATACATATGTGTATATATGTATATATGT ATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCAGAT others(491): Show CATCAGATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	193	0.0052	498	c.-36 others(509): Show c.-3672_-3671insATCAGATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCATATATATCACATATATGATATATATAT CATATATATCACATATATGATATATATATCATATATATCACATATATGAT ATATATATCATATATATCACATATATGATATATATATCATATATATCACA TATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(492): Show TGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGGTGGGATG GATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATA AATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAAT GAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGGT GGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGG TGGGTGGAATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGG ATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA20300.hp2 NA19240.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0017 a0001c0002 a0004c0017	a0001c0002t0001 a0004c0017t0001 a0001c0002t0001 a0004c0017t0001	a0001c0002t0001g0014 a0004c0017t0001g0076 a0001c0002t0001g0014 a0004c0017t0001g0076	2	91	0.0220	499	c.278 others(516): Show c.2787+965_2787+966insTTAGCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTATCCATCCATCCCACCCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(492): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAA CACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp1 HG02083.hp2 HG02132.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0003c0008t0020 a0001c0001t0003 a0003c0008t0020	a0001c0001t0003g0149 a0003c0008t0020g0131 a0001c0001t0003g0149 a0003c0008t0020g0131	2	203	0.0099	499	c.61+ others(514): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGG GGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACT GAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGAT GTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(492): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAG CCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	272	0.0037	499	c.61+ others(514): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTG ATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGG GGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGG GTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(492): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCCCCCCATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAG TCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	272	0.0037	499	c.61+ others(514): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGG GGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGG GTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCC others(492): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	247	0.0040	499	c.37 others(510): Show c.3715_*3716insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(492): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCACC CACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTCA TCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCAT TCACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0189 a0002c0003t0020g0189	1	7	0.1429	499	c.775 others(514): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGGTGGAAGGGTGGGTGAATTAATGGGTAGG TAAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTG GGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGA TGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTG GGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGA TGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAA ATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATG GGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AHRR_chr5_316714_443285	398159	G G	GTTAGCCC others(492): Show GTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGA CCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTA GCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCAT CCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTC CTGACCATCCACGTAGCCCCTGACCGTCCACGTAGCTCCTGACCATCCAT GTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGA CCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAG CTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATC CACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCT GACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0016 a0001c0001t0059g0016	1	261	0.0038	499	c.352 others(518): Show c.352-15184_352-15183insTAGCCCCTGACCATCCACGTAGCCCC TGACCATCCACGTAGCTCCTGACCATCCACGTAGCTCCTGACCATCCATG TTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGAC CATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAG CCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCGTC CACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTCC TGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACG TAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACC ATCCACGTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCC CCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCA CGTAGCTCCTGACCATCCATGTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(492): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGGGGAGGAGGAGGGGGGGGAGGAGGGGGGGGGGAGGGGGG GAGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGG GGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGG AGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGG GGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	183	0.0055	499	c.125 others(520): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTCCCCC TCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCCTCCTCCC CCCCCTCCTCCTCCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCT TCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCC TCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCT TCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(492): Show CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTT ACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCACTTC CCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGA GCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCC GTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTA GCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGACCATTTCC CACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCCCCGTGACCA CGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGA GCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	209	0.0048	499	c.-21 others(510): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGT GTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(492): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCCG CACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCC CACCTGTCTCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGC ACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTC CCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0048 a0005c0039t0048	a0005c0039t0048g0095 a0005c0039t0048g0095	1	321	0.0031	499	c.-48 others(516): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCC ACCTGTCCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCT GTCCCCCCGCACCCCACCTGTCTCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCA CCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCC GCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049392	G G	GGGGGGCA others(492): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAG AGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGG AACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG GGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	296	0.0034	499	c.53 others(510): Show c.5338_*5339insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCC ATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGC CCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTC CCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCC CTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTG TTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2711		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(492): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACAT ATAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATAT AAATATATATATTTGTATGACATATAAATATATATATTTGTATGATATAT AAATATATATATTTGTATGATATATAAATATATATATTTGTATGATATAT AAATATATATATTTGTATGATATATAAATATATATATTTGTATGATATAT AAATATATATATTTGTATGATATATAAATATATATATGTATGATATATAA ATATATATATTTGTATGATATATAAATATATATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19003.hp2 NA18971.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0236 a0001c0002t0001g0007 a0001c0002t0001g0236	2	310	0.0065	499	c.671 others(516): Show c.671-1245_671-1244insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TGTCATACAAATATATATATTTATATGTCATACAAATATATATATTTATA TGTCATACAAATATATATTTATATGTCATACAAATATATATTTATATATC ATACAAATATATATATCATACAAATATATATATATTTATATATCATACAA ATATATATATATTTATATATCATACAAATATATATTTATATATCATACAT GTATATTTATATATCATACAAATATATATATTTATATATCATACAAATAT ATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
C2CD4C_chr19_400445_414147	404260	C C	CGGGGCCC others(492): Show CGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGA GGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGA CGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGG GGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGACG GGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGGACGGGGCCCTGTCCTGAG GGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGAC GGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGG GTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACG GGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGG TGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0036 a0002c0003t0036	a0002c0003t0036g0119 a0002c0003t0036g0119	1	204	0.0049	499	c.28 others(510): Show c.2835_*2836insCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCC CGTCCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACAC CCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCC GTCCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACC CCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCG TCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCCCTCACACC CCTCAGGACAGGGCCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCC GTCCCCCCCTCAGACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCC CTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGT CCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCC TCAGGACAGGGCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1184		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(492): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGG GGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(32): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG02145.hp2 HG02155.hp2 HG02451.hp1 HG02647.hp2 HG02735.hp2 HG02976.hp1 HG03139.hp1 HG03491.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18951.hp2 NA18963.hp2 NA18970.hp1 NA18991.hp2 NA19030.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp2	a0003 a0006 a0011 others(3): Show a0003 a0006 a0011 a0015 a0021 a0046	a0003c0003 a0003c0015 a0003c0046 others(5): Show a0003c0003 a0003c0015 a0003c0046 a0006c0008 a0011c0011 a0015c0016 a0021c0049 a0046c0047	a0003c0003t0001 a0003c0015t0001 a0003c0046t0001 others(5): Show a0003c0003t0001 a0003c0015t0001 a0003c0046t0001 a0006c0008t0001 a0011c0011t0001 a0015c0016t0001 a0021c0049t0001 a0046c0047t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 others(32): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0145 a0003c0003t0001g0147 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0173 a0003c0003t0001g0177 a0003c0003t0001g0179 a0003c0003t0001g0181 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0188 a0003c0003t0001g0190 a0003c0003t0001g0194 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0015t0001g0146 a0003c0015t0001g0193 a0003c0046t0001g0172 a0006c0008t0001g0157 a0011c0011t0001g0017 a0015c0016t0001g0014 a0015c0016t0001g0183 a0021c0049t0001g0174 a0046c0047t0001g0149	35	248	0.1411	499	c.144 others(516): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(492): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0271	1	248	0.0040	499	c.144 others(516): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCGCCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(492): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	248	0.0040	499	c.144 others(516): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(492): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGC AGCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	248	0.0040	499	c.144 others(516): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(492): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0018 a0002c0008t0018	a0002c0008t0018g0220 a0002c0008t0018g0220	1	103	0.0097	499	c.300 others(516): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72114242	T T	TGGGAAGG others(492): Show TGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGTAAAAATAAAAGTGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	97	0.0103	499	c.245 others(516): Show c.245-7949_245-7948insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTTTTACTCCCTTCC CTTCCCTTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTATATAT others(492): Show TTATATATATAATTATATATATATATAATTTTATATATAATTATATATAT AATTTTATATATAATTATATATATAATTTTATATATAATTATATATATAA TTTTATATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATTATATAATTTTATATATATAATTATATATATTATATAATTATATAT ATAATTTTATATATATATAATTATATATACAATTTTATAATATATATAAT TATATATACAATTATATATATATATAATTATATATATAATTATATATATA TAATTGTATATATAATTTTATATATATATAATTATATATATAATTATATA TATATAATTATATATATTTATATATATATATAATTATATATATAATTATA TATATAAAATTATATATATAATTATATATATATAATTATATATATAATTT TATATATATAATTTTATATAATTTTATATATAATTATATATATAATTTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0297 a0003c0018t0002g0297	1	286	0.0035	499	c.907 others(514): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATATAATTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTATATATATATA TAAATATATATAATTATATATATATAATTATATATATAATTATATATATA TAAAATTATATATACAATTATATATATATAATTATATATATAATTATATA TATATATAATTGTATATATAATTATATATATTATAAAATTGTATATATAA TTATATATATATAAAATTATATATATAATTATATAATATATATAATTATA TATATAAAATTATATAATATATATAATTATATATATATAAAATTATATAT ATAATTATATATATATAAAATTATATATATAATTATATATAAAATTATAT ATATAATTATATATAAAATTATATATATAATTATATATAAAATTATATAT ATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(492): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	220	0.0045	499	c.803 others(513): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(492): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATAGCATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTT TATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGT AGTTATATATACTATATATACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01168.hp1 others(8): Show HG00639.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01515.hp1 HG02004.hp2 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0003c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0036 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0036 a0001c0002t0003 a0003c0006t0001 a0003c0007t0017	a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0007g0118 others(8): Show a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0007g0118 a0001c0001t0036g0125 a0001c0002t0003g0059 a0001c0002t0003g0126 a0003c0006t0001g0031 a0003c0006t0001g0067 a0003c0006t0001g0071 a0003c0006t0001g0213 a0003c0007t0017g0241	11	37	0.2973	499	c.349 others(514): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATAGCATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTT TATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGT AGTTATATATACTATATATACTATATATAGTTTATATATATACTATATAT ACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(492): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTGTATATACACTATATATAGCATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTT TATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGT AGTTATATATACTATATATACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	27	0.0370	499	c.349 others(514): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTGTATATACACTATATATAGCATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTT TATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGT AGTTATATATACTATATATACTATATATAGTTTATATATATACTATATAT ACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(492): Show CACTATATATAGTAGTTATATATACACTATATAATAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTAGTTATAT ATACTATATATACACTATATATAGTAGTTATATATACTATATATACACTA TATATAGTTTATATATACTATATATAAACTATATATAGTAGTTATATATA CTACTATATATACTACTATATATAGTATATACTATATATACACTATATAT AGTAGTTATATATACTACTATATATACTACTATATATAGTATATACTATA TATACACTATATATACACTATATATAGCATATATACTATATATACACTAT ATATAGTAGTTATATATACTATATATACACTATACATACACTATATATAG TTTATATATACTATATATAGTAGTTATATATACTATATATAGTATATATA GTATATATAAACTATATATACTATATATAGTTTATATATAAACTATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0256 a0001c0003t0015g0256	1	27	0.0370	499	c.349 others(514): Show c.349+948_349+949insTACACTATATAATAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTAGTTATATAT ACTATATATACACTATATATAGTAGTTATATATACTATATATACACTATA TATAGTTTATATATACTATATATAAACTATATATAGTAGTTATATATACT ACTATATATACTACTATATATAGTATATACTATATATACACTATATATAG TAGTTATATATACTACTATATATACTACTATATATAGTATATACTATATA TACACTATATATACACTATATATAGCATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTT TATATATACTATATATAGTAGTTATATATACTATATATAGTATATATAGT ATATATAAACTATATATACTATATATAGTTTATATATAAACTATATATAC TATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(492): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCCTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCTCCCTCTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0181 a0001c0003t0002g0181	1	2	0.5000	499	c.75- others(516): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCCTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(492): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCTCCCTCTTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02109.hp2 HG02273.hp2 others(11): Show HG01258.hp1 HG02109.hp2 HG02273.hp2 HG02602.hp2 HG02622.hp2 HG03139.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18983.hp2 NA19010.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0021 a0001c0001t0032 a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0005t0001	a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0175 others(11): Show a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0004g0179 a0001c0001t0006g0118 a0001c0001t0012g0178 a0001c0001t0021g0017 a0001c0001t0032g0075 a0001c0002t0001g0160 a0001c0002t0001g0176 a0001c0002t0004g0120 a0001c0003t0003g0137 a0001c0005t0001g0163	14	15	0.9333	499	c.75- others(516): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(492): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCTTCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCTCCCTCTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0037 a0001c0002t0013g0037	1	2	0.5000	499	c.75- others(516): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCTTCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCTCCTCCTTCCCCTTC CCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCACCTTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCTTCTTCCTCCTCCCTTCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTC CCTCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCTCCTCCCTTCCCCCTTTCTCCTTATCCCTCCTCCCT TCCCCCTTCCTCCTTCCCCTTCCACCCTTCCCCCTTACCCCCTCCTCTCT TCCTCCTTCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0002 a0002c0001t0023g0002	1	8	0.1250	499	c.69 others(510): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTC TCCTCCTTCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCA CCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCTTCTTCCTCCTCCCTTCCCCTTCTTCCCTCCCC CCTTCCCCCTTCCTCCCTCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTTCTCC TTATCCCTCCTCCCTTCCCCCTTCCTCCTTCCCCTTCCACCCTTCCCCCT TACCCCCTCCTCTCTTCCTCCTTCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0010 a0007c0011t0010	a0007c0011t0010g0023 a0007c0011t0010g0023	1	8	0.1250	499	c.69 others(510): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01993.hp1 HG02273.hp2 others(2): Show HG01928.hp2 HG01993.hp1 HG02273.hp2 HG03540.hp1 HG03704.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0017 a0002c0001t0002g0006 a0002c0001t0002g0017	5	12	0.4167	499	c.69 others(510): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20356898	C C	CTGAGAGG others(492): Show CTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACT GCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03209.hp1 HG03486.hp2 others(1): Show HG01361.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0003t0003 a0002c0002t0003 a0001c0001t0003 a0001c0003t0003 a0002c0002t0003	a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142 others(1): Show a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142 a0002c0002t0003g0101	4	210	0.0190	499	c.351 others(518): Show c.3514-3308_3514-3307insAGGAGGTGGTCACACTGAGGGGAAGT GGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCATACTGTG AGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACT GAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTG GTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGAT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(492): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAT AGTGTGCGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01243.hp1 others(6): Show HG00735.hp1 HG01074.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp1 HG04199.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0007 a0002c0004 others(3): Show a0001c0001 a0001c0007 a0002c0004 a0002c0034 a0003c0005 a0014c0030	a0001c0001t0002 a0001c0007t0002 a0002c0004t0006 others(3): Show a0001c0001t0002 a0001c0007t0002 a0002c0004t0006 a0002c0034t0002 a0003c0005t0002 a0014c0030t0002	a0001c0001t0002g0198 a0001c0007t0002g0222 a0001c0007t0002g0231 others(6): Show a0001c0001t0002g0198 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0002c0004t0006g0020 a0002c0034t0002g0034 a0003c0005t0002g0069 a0003c0005t0002g0218 a0014c0030t0002g0056	9	52	0.1731	499	c.351 others(518): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGG TCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCATAGTGTGCGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAG GAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(492): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATATGATACAAATG ATATATATGATATATATGATATATATCAGATATATATATCATATATATCA TATATATCATTTGTATCATATATATATCATATATATCATATGTATCATAT ATATCATGTATATATCATATATATCATATATATCATATATGTATTCATAT ATATCATATATATTCATATATCATATATATTCATATATATCATATATTCA TATATATCATATATATTCATATATATCATATATTCATATATATCATATAT ATTCATATATATATCATATATATTCATATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0148 a0001c0005t0003g0148	1	4	0.2500	499	c.267 others(516): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATATGATACAAATGAT ATATATGATATATATGATATATATCAGATATATATATCATATATATCATA TATATCATTTGTATCATATATATATCATATATATCATATGTATCATATAT ATCATGTATATATCATATATATCATATATATCATATATGTATTCATATAT ATCATATATATTCATATATCATATATATTCATATATATCATATATTCATA TATATCATATATATTCATATATATCATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATCATATA TATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(492): Show AGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0024 a0001c0013t0001g0024	1	298	0.0034	499	c.85- others(516): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCTTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(492): Show CCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCG GCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACC CGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCC CCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCGGCC CCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0180 a0015c0015t0001g0180	1	265	0.0038	499	c.489 others(516): Show c.489-1413_489-1412insACACTAACCCAGTCCCCACACTGACCCA GCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCC GGCCCCCCACACTGACCCGGCCCCCCACACTGACCCAGTCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACT AACCCGGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCC CCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3323980	T T	TTGTTAAA others(492): Show TTGTTAAAATAGACACACACCCAACCCCAGAGACCCAGGAGGGGGAGTTT CCTTCACCCCACCTTTCATCATGGTTAAAACAGACACACATCTAACACCC AGAGACTCGGGAGGGGGAGTTTCCTTCACCCCACCTTTCATCATTGTTAA AATAGACACACACCCAACCCCAGAGACCCAGGAGGGGGAGTTTCCTTCAC CCCACCTTTCATCGTTGTTAAAATAGGCCACACCTAACCCCTGAGACCCA GGAGGGGGAGTTTCCTTCACCCCACTAGTCGTCACTGTTAAAATAGACAC ACATCTAATCCCCAGGGACCCAGGAAGGGGCGTTTCCTTCCCCCTACCTT TGGTCACTGTTAAAATAGGCCCACACCTAATCCTCAGAGACCCAGGAGTG GGAGTTTCCTTCCCCCCACCATTCTTCACTGTTAAAATAGACACACATTC AACCCCCAGAGACCCAGGAGGGGGAGTTTCTTCCCCCCACCATTCGTCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02572.hp1 others(2): Show HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 NA18522.hp2	a0002 a0008 a0018 others(1): Show a0002 a0008 a0018 a0020	a0002c0070 a0002c0072 a0008c0088 others(2): Show a0002c0070 a0002c0072 a0008c0088 a0018c0042 a0020c0112	a0002c0070t0046 a0002c0072t0003 a0008c0088t0076 others(2): Show a0002c0070t0046 a0002c0072t0003 a0008c0088t0076 a0018c0042t0004 a0020c0112t0081	a0002c0070t0046g0092 a0002c0072t0003g0066 a0008c0088t0076g0057 others(2): Show a0002c0070t0046g0092 a0002c0072t0003g0066 a0008c0088t0076g0057 a0018c0042t0004g0004 a0020c0112t0081g0090	5	126	0.0397	499	c.363 others(520): Show c.3632-15478_3632-15477insGTGACGAATGGTGGGGGGAAGAAA CTCCCCCTCCTGGGTCTCTGGGGGTTGAATGTGTGTCTATTTTAACAGTG AAGAATGGTGGGGGGAAGGAAACTCCCACTCCTGGGTCTCTGAGGATTAG GTGTGGGCCTATTTTAACAGTGACCAAAGGTAGGGGGAAGGAAACGCCCC TTCCTGGGTCCCTGGGGATTAGATGTGTGTCTATTTTAACAGTGACGACT AGTGGGGTGAAGGAAACTCCCCCTCCTGGGTCTCAGGGGTTAGGTGTGGC CTATTTTAACAACGATGAAAGGTGGGGTGAAGGAAACTCCCCCTCCTGGG TCTCTGGGGTTGGGTGTGTGTCTATTTTAACAATGATGAAAGGTGGGGTG AAGGAAACTCCCCCTCCCGAGTCTCTGGGTGTTAGATGTGTGTCTGTTTT AACCATGATGAAAGGTGGGGTGAAGGAAACTCCCCCTCCTGGGTCTCTGG GGTTGGGTGTGTGTCTATTTTAACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar

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