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
TPO_chr2_1408463_1548673	1489933	A A	AGGAGTCA others(393): Show AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0007 a0010c0010t0007	a0010c0010t0007g0086 a0010c0010t0007g0086	1	117	0.0085	400	c.176 others(419): Show c.1768+1954_1768+1955insCAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490040	G G	GCGACACA others(393): Show GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0026 a0002c0002t0006g0026	1	35	0.0286	400	c.176 others(419): Show c.1768+2176_1768+2177insAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490249	C C	CAGTGTAA others(393): Show CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGACACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0003 a0008c0028t0003	a0008c0028t0003g0003 a0008c0028t0003g0003	1	123	0.0081	400	c.176 others(419): Show c.1768+2269_1768+2270insCGCCACGAGGGTCCCACACAGGAGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGA GACACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAATAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1527408	C C	CAACCGCC others(393): Show CAACCGCCTCATATTCCCCCCACTGTGTGGACCCTTCTCAAATCCCCCCT AATGTCAGCAACTTCCCTAAATCCCCCAACTGTGTTCAACCTCCCCAAAT CCCTCCCACTGTGTGCAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCT CCCCAAATACCCCCCACTGTGTGCAACTTCCTCAAGTCCCCCACTGTGTG CAACCCCCACAAATCCCCCCACTGTGCGCAACCTCCTCTAATCCCCTCAC TGTGTGCAACCTCCACAAATGCCCCCCACAGTGCACAACCTCCTCAAATC CCCCACCACTGTGAGCAACCTGCCCAAATCCCCCCACTGTGAGTAACCTC CTGCAATTGCCCCGCACTGTGCAACCTCCTCAAATCCCCCCCACAGTGCA A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 NA18612.hp2 others(2): Show HG00408.hp2 HG00423.hp1 NA18612.hp2 NA18998.hp1 NA19011.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0003c0006 others(1): Show a0001c0001 a0003c0003 a0003c0006 a0004c0005	a0001c0001t0005 a0003c0003t0005 a0003c0006t0004 others(1): Show a0001c0001t0005 a0003c0003t0005 a0003c0006t0004 a0004c0005t0005	a0001c0001t0005g0077 a0003c0003t0005g0042 a0003c0006t0004g0100 others(2): Show a0001c0001t0005g0077 a0003c0003t0005g0042 a0003c0006t0004g0100 a0003c0006t0004g0101 a0004c0005t0005g0075	5	128	0.0391	400	c.261 others(421): Show c.2618+10430_2618+10431insGCCTCATATTCCCCCCACTGTGTG GACCCTTCTCAAATCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCAA CTGTGTTCAACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAAT CCTCCCGACTCTGTGCAACCTCCCCAAATACCCCCCACTGTGTGCAACTT CCTCAAGTCCCCCACTGTGTGCAACCCCCACAAATCCCCCCACTGTGCGC AACCTCCTCTAATCCCCTCACTGTGTGCAACCTCCACAAATGCCCCCCAC AGTGCACAACCTCCTCAAATCCCCCACCACTGTGAGCAACCTGCCCAAAT CCCCCCACTGTGAGTAACCTCCTGCAATTGCCCCGCACTGTGCAACCTCC TCAAATCCCCCCCACAGTGCAAAACC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(393): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGAA GGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGG GAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAG GAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGC GAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGG G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	87	0.0115	400	c.30+ others(417): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGA GGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAA GGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAG GGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097618	T T	TGTGTATA others(393): Show TGTGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTA TATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	243	0.0041	400	c.-48 others(411): Show c.-4838_-4837insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTAT ATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATAT ATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGC ACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGT GTATATGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4812		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097658	C C	CACGCGTG others(393): Show CACGCGTGCGTATATATACATATACACGCGTGCGTATATACATATACACG CGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATACACATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	256	0.0039	400	c.-48 others(411): Show c.-4878_-4877insATATATGTGTATACGCACGCGTGTATATGTATAT ATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATAT ACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGT ATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT ATATATACGCACGCGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4852		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(393): Show CATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATATGGGTATACATGTATACATGTATACATGTATATGGG TATACATGTATACATGTATACATGTATATGGGTATACATGTATACATGTA TATGGGTATACATGTATACATGTATACATGTATATGGGTATACATGTATA T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0239 a0004c0005t0004g0240 a0004c0005t0004g0239 a0004c0005t0004g0240	2	153	0.0131	400	c.170 others(419): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACCCATAT ACATGTATACATGTATACATGTATACCCATATACATGTATACATGTATAC ATGTATACCCATATACATGTATACATGTATACATGTATACCCGTATACAT GTATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGT ATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTAT ACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATAC CCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATACAT ATATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(393): Show CATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACA TGTATATATGTATACATGTATACGGGTATACATGTATATATGTATACATG TATACGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTA TATATGTATACATGTATACGGGTATACATGTATATATGTATACATGTATA CGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATATGGGTATACATGTATACATGTATACATGTATATGGG TATACATGTATACATGTATATGGGTATACATGTATACATGTATACATGTA TATGGGTATACATGTATACATGTATACATGTATATGGGTATACATGTATA T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0228 a0001c0001t0006g0228	1	152	0.0066	400	c.170 others(419): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACATGTAT ACCCATATACATGTATACATGTATACCCATATACATGTATACATGTATAC ATGTATACCCATATACATGTATACATGTATACATGTATACCCGTATACAT GTATACATATATACATGTATACCCGTATACATGTATACATATATACATGT ATACCCGTATACATGTATACATATATACATGTATACCCGTATACATGTAT ACATATATACATGTATACCCGTATACATGTATACATATATACATGTATAC CCGTATACATGTATACATATATACATGTATACCCGTATACATGTATACAT ATATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPV3_chr17_3505502_3562812	3519850	C C	CTGGATGG others(393): Show CTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGAT GGATGAATGATTAGATGGATGGATGGATGGATGGATGGATAGCTGGATGG ATGGACCGATTGATCGATGGATGGATGGATGACTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGGATGG ACTGATTGATCGATGGATGGATGGATGATTGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGATGGATGAATGA TTAGATGGATGGATGGATGGATGGATGGATAGCTGGATGGATGGACCGAT TGATCGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGG A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0017 a0017	a0017c0081 a0017c0081	a0017c0081t0003 a0017c0081t0003	a0017c0081t0003g0298 a0017c0081t0003g0298	1	44	0.0227	400	c.181 others(419): Show c.1811-1001_1811-1000insTCCATCCAGTCATCCATCCATTCATC CATTTAATCATCCATCCATCGATCAATCGGTCCATCCATCCAGCTATCCA TCCATCCATCCATCCATCCATCTAATCATTCATCCATCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCAATCA TCCATCCATCCATCGATCAATCAGTCCATCCATCCATCTAATCATCCATC TAATCATCCATCCATCCATCCATCCATCCATCCATCCATCCAGTCATCCA TCCATCCATCGATCAATCGGTCCATCCATCCAGCTATCCATCCATCCATC CATCCATCCATCTAATCATTCATCCATCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCA	TRPV3	ENSG00000167723.15	transcript	ENST00000576742.6	protein_coding	14/17			chr17	TogoVar
TTLL8_chr22_50013575_50063298	50057371	G G	GTGAGTCA others(393): Show GTGAGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGG TTGGGGTCAGGTCTGGGTTGGGGTCAGGACTGGGTTTGGTGTCAGGTCTG GGCTGTGAGTCAGGTCTGGGTTGTGGGTCAGGTCTGGGTTGGGGTCAGGT CTGGGTTGGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGATCA GGTCTGGGTTGGGATCGGGTCTGGGTTGGGGTCAGGTCTGGGTTGAGCGG GAGGTCTGGGTTGGGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGG GATCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTG GGGTCAGGTCTGGGTTGGGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGT T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0002 a0005c0028t0002	a0005c0028t0002g0188 a0005c0028t0002g0188	1	222	0.0045	400	c.-38 others(415): Show c.-38-399_-38-398insAACCCAGACCTGACCCCAACCCAGACCTGA TCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCAACCCAGACCT GACCCCAACCCAGACCTGATCCCCAACCCAGACCTGACCCCAACCCAGAC CTGATCCCCAACCCAGACCTCCCGCTCAACCCAGACCTGACCCCAACCCA GACCCGATCCCAACCCAGACCTGATCCCCCAACCCAGACCTGACCCCAAC CCAGACCTGATCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCACA ACCCAGACCTGACTCACAGCCCAGACCTGACACCAAACCCAGTCCTGACC CCAACCCAGACCTGACCCCAACCCAGACCTGACCCCAACCCAGACCTGAC CCCAACCCAGACCTGACTCA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
UMAD1_chr7_7635752_7884223	7679054	T T	TATATTTA others(393): Show TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA TTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTTACATATTTA GTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTA C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	232	0.0043	400	c.82+ others(415): Show c.82+5617_82+5618insTATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(393): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	141	0.0071	400	c.82+ others(415): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(393): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	71	0.0141	400	c.82+ others(415): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(393): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	71	0.0141	400	c.82+ others(415): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(393): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	301	0.0033	400	c.53+ others(415): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR86_chr7_151376124_151415038	151397644	A A	ATAGCGGG others(393): Show ATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGAGGA AGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGGAGG AAGAGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTG GGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTG TAGCGGGAGGAAGAGGGCGTAGCAGGAGGAAGGGCATAGCGGGAGGAAGA GGGTGTAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGGCATAGCGGGAG GAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGT GGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGT G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02615.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0136 a0001c0001t0007g0069 a0001c0001t0004g0136 a0001c0001t0007g0069	2	399	0.0050	400	c.306 others(417): Show c.306-1449_306-1448insCACCCTCTTCCTCCCGCTACACCCTCTT CCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTACACC CTCTTCCTCCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCCGCTAC ACCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCT GCTACGCCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTACACCCTCT TCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTACAC CCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTA TGCCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACACCCTCTTCCTCCCG CTACACCCTCTTCCTCCCGCTA	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
WDR86_chr7_151376124_151415038	151397799	A A	AAGAGGGT others(393): Show AAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGGCATAGCG GGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTG TAGTGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGA GGGTGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAG GAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGGCATAGCGG GAGGAAGAGGGTGTAGCGGGAGGAAGAGGGCGTAGCAGGAGGAAGGGCAT AGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGG CATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGGCATAGCGGGAGGAA G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0335 a0003c0009t0001g0335	1	318	0.0031	400	c.306 others(417): Show c.306-1604_306-1603insCTTCCTCCCGCTATGCCCTTCCTCCCGC TACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCT CCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACGCCCTCTT CCTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACC CTCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCTCCCGCT ATGCCCTTCCTCCCGCTACACCCTCTTCCTCCCGCTACACCCTCTTCCTC CCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTACACCCTCT TCCTCCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACCC TCTTCCTCCCGCTACACCCTCT	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATTATA others(393): Show ATATTATATATATATATAATATATATATATTATATATATATATAATATAT ATATATTATATATATATATAATATATATATATTATATATATATAATATAT ATATATTATATATATATATATAATATATATAATATATATATAATATATAT ATATTATATATATATTATATATATATTATATATATTATATATATATTATA TATATATTATATATATATAATATATATAATATATATATAATATATATTAT ATATATAATATATATATATTATATATATAATATATATATTTAATATATAT ATTATATATATAATATATATTATATATATAATATATATATTTAATATATA TTATATATATAATATATATATTATATATATAATATATATAATATATATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0151 a0003c0004t0001g0151	1	147	0.0068	400	c.38 others(411): Show c.3884_*3885insAATATATATATTATATATATTATATATATAATAT ATATATTATATATATAATATATATTAAATATATATATTATATATATAATA TATATTATATATATAATATATATATTAAATATATATATTATATATATAAT ATATATATATTATATATATAATATATATTATATATATATTATATATATTA TATATATATAATATATATATAATATATATATAATATATATAATATATATA TAATATATATATAATATATATATATTATATATATATTATATATATTATAT ATATATATATAATATATATATATTATATATATATAATATATATATATTAT ATATATATATAATATATATATATTATATATATATATAATATATATATATT ATATATATATATAATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATACGTAT others(393): Show ATACGTATCATATGTGATATATATCATATATATCACATATATGATACGTA TCATATGTGATATATATCATATATATCACATATGATATATATCATATATA TCACATGTGATATATATCATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCATATGTGATATATAGCATATATATC ATATGTGATATATAGCATATATATCATATATCATATATATCATATATATC ATATATCATATATATCATATATCATATATCATATATATCATATATCATAT ATATCATATGTGATATATATGATATATATGATATATATCATATATGATAT ATATGATATATCACATATATATGATATATATCACATATATATCATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	243	0.0041	400	c.-34 others(411): Show c.-3475_-3474insTACGTATCATATGTGATATATATCATATATATCA CATATATGATACGTATCATATGTGATATATATCATATATATCACATATGA TATATATCATATATATCACATGTGATATATATCATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCATATGTGATA TATAGCATATATATCATATGTGATATATAGCATATATATCATATATCATA TATATCATATATATCATATATCATATATATCATATATCATATATCATATA TATCATATATCATATATATCATATGTGATATATATGATATATATGATATA TATCATATATGATATATATGATATATCACATATATATGATATATATCACA TATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(394): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGG AGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGG GGAGACGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAG GAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGG GAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	30	0.0333	401	c.51 others(412): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCGTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTC CCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTC CCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGGTC others(394): Show CCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATGCTCCC TCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTC CCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGC TCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTC CCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGT CCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCC TCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGT CCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGT GT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA21309.hp1 HG03453.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0020 a0003c0029 a0001c0020 a0003c0029	a0001c0020t0002 a0003c0029t0031 a0001c0020t0002 a0003c0029t0031	a0001c0020t0002g0181 a0003c0029t0031g0222 a0001c0020t0002g0181 a0003c0029t0031g0222	2	48	0.0417	401	c.147 others(422): Show c.1474-30595_1474-30594insGGTCAGTGTCCTCCTGGTCAGTAC TCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCA GTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGT CAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCA GTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGT CAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTC AGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCA GTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGT CAGTGCTCCCTCCCTGGTCAGTGTCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(394): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	123	0.0081	401	c.-1- others(416): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(394): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0179 a0001c0005t0001g0179	1	192	0.0052	401	c.-48 others(416): Show c.-48+934_-48+935insCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC TCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCT GTCCCCCCACACCCCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(394): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCA CCCCACCTGTCCCTCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCA CCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0001 a0004c0038t0001	a0004c0038t0001g0027 a0004c0038t0001g0027	1	192	0.0052	401	c.-48 others(416): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTTCACCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCTGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACC CCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCC CCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825135	C C	CCCACCTG others(394): Show CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTC CCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGC TGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCA AT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0001 a0001c0069t0001	a0001c0069t0001g0010 a0001c0069t0001g0010	1	342	0.0029	401	c.-48 others(418): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTG CACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTAC TCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCAC CTGTCCCCCCGCAATCCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825139	C C	CCTGTTCA others(394): Show CCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCT GTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCC AG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0127 a0002c0127	a0002c0127t0001 a0002c0127t0001	a0002c0127t0001g0013 a0002c0127t0001g0013	1	362	0.0028	401	c.-48 others(418): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT TCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACC TGTTTACTCTGCACCCCAGCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(394): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATGATATATATGAATATATATATCATATATGATATATATGA ATATATATATCATATATGATATATATGAATATATATATCATATATGATAT ATATATTCATATATATCATATATGATATATATGAATATATATATCATATA TG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02683.hp1 HG00741.hp1 HG02683.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0165 a0002c0001t0006g0166 a0002c0001t0006g0165 a0002c0001t0006g0166	2	269	0.0074	401	c.924 others(418): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGAATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
AXIN1_chr16_282440_357723	334539	A A	AGCATGCC others(394): Show AGCATGCCAATAACACAGCACCCAGTACCACGGCATGCCAAAAACACAGC ACCCAGTACCATGGCACACTAATTACACAGCACCCAGTACCATGGCACAC TGATAACACAGCACCCAGTAGCACAGCACGCCAATAATGCAGCACCCAGT ACCATGGCATGCTAATTACACAGCACCCAATACCACAGCACACCAATAAC ATAGCACCCAGTACCACAGCATGCCAATAACACAGCACCTAGTACCACAA CACACTAATATCACAGCACCCAGTGCCATAGCATGCCAATAACAGCACCC AGCACCATGGCATGCCAAAAGCAAACCATCCAGTACCATGACACGCTAAT TACACAGCACCCAGTACCACAACACACCAATAACACAGCACCCAGTACCA CG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0196 a0001c0003t0026g0196	1	220	0.0045	401	c.878 others(420): Show c.878+11608_878+11609insCGTGGTACTGGGTGCTGTGTTATTGG TGTGTTGTGGTACTGGGTGCTGTGTAATTAGCGTGTCATGGTACTGGATG GTTTGCTTTTGGCATGCCATGGTGCTGGGTGCTGTTATTGGCATGCTATG GCACTGGGTGCTGTGATATTAGTGTGTTGTGGTACTAGGTGCTGTGTTAT TGGCATGCTGTGGTACTGGGTGCTATGTTATTGGTGTGCTGTGGTATTGG GTGCTGTGTAATTAGCATGCCATGGTACTGGGTGCTGCATTATTGGCGTG CTGTGCTACTGGGTGCTGTGTTATCAGTGTGCCATGGTACTGGGTGCTGT GTAATTAGTGTGCCATGGTACTGGGTGCTGTGTTTTTGGCATGCCGTGGT ACTGGGTGCTGTGTTATTGGCATGC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(394): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	299	0.0033	401	c.36 others(412): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
C20orf96_chr20_265863_295750	279062	G G	GGGAGGGA others(394): Show GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGCGGGACGGAGGGTGGGAGGGAGGGAGGGATGGAGGGAGGG AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGG CGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGCGGGCGGG AC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	303	0.0033	401	c.465 others(416): Show c.465+109_465+110insGTCCCGCCCGCCCTCCCTCCATCCCTCCCG CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCG TCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCT CCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCATCCCTCCCTCCCTCCCA CCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCC TCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTC CCGCCCTCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404061	T T	TGGGGGGG others(394): Show TGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGA CGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCCCC GAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGG GGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGACGGGGC CCTGCCCCGAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGG TGTGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCC CCGAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	197	0.0051	401	c.30 others(412): Show c.3034_*3035insCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCC CCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCACACCCC TCGGGGCAGGGCCCCGTCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCC CGTCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCC CACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCACACCCCTCGGGG CAGGGCCCCGTCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCC CCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCACACC CCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCACACCCCTCGGGGCAGGGC CCCGTCCCCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1383		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(394): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGG GCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG TC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0295 a0008c0023t0001g0295	1	214	0.0047	401	c.144 others(418): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(394): Show TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTC CC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0067 a0001c0001t0057g0067	1	203	0.0049	401	c.482 others(418): Show c.482+1348_482+1349insTTCCCTCCTTCCTTCCTTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTT CGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(394): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCCCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCTCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCC TCCTCTCCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCCCTC CT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG03195.hp2 others(1): Show HG02280.hp1 HG02622.hp1 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0034 a0001c0003t0001g0094 a0001c0004t0001g0022 others(1): Show a0001c0001t0001g0034 a0001c0003t0001g0094 a0001c0004t0001g0022 a0001c0004t0001g0095	4	6	0.6667	401	c.255 others(418): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCCCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCTCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCC TATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCT TCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(394): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCC TCCTCTCCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCCCTC CT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(70): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG02080.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18951.hp1 NA18979.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0039 a0001c0040 a0001c0041 a0001c0043 a0002c0020	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(40): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0007 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0008 a0001c0010t0001 a0001c0010t0003 a0001c0010t0006 a0001c0011t0001 a0001c0012t0005 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0005 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0023t0001 a0001c0024t0001 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0005 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0043t0001 a0002c0020t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0029 others(70): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0003t0001g0011 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0084 a0001c0003t0001g0110 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0004t0001g0031 a0001c0004t0001g0050 a0001c0004t0002g0008 a0001c0005t0001g0052 a0001c0005t0001g0088 a0001c0005t0003g0055 a0001c0006t0001g0009 a0001c0006t0007g0098 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0067 a0001c0008t0001g0074 a0001c0008t0001g0103 a0001c0009t0001g0113 a0001c0009t0008g0077 a0001c0010t0001g0065 a0001c0010t0003g0057 a0001c0010t0006g0062 a0001c0011t0001g0099 a0001c0012t0005g0027 a0001c0013t0001g0093 a0001c0013t0001g0105 a0001c0014t0001g0071 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0016t0005g0116 a0001c0017t0001g0025 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0023t0001g0018 a0001c0024t0001g0069 a0001c0027t0001g0014 a0001c0028t0001g0089 a0001c0029t0001g0096 a0001c0031t0001g0032 a0001c0032t0001g0048 a0001c0033t0001g0114 a0001c0034t0001g0086 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0039t0001g0047 a0001c0040t0001g0117 a0001c0041t0001g0085 a0001c0043t0001g0051 a0002c0020t0001g0021	73	75	0.9733	401	c.255 others(418): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCC TATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCT TCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(394): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCC TCCTCTCCCCTCCCCTCCTCTCCTGTCCTTTCTTCTCCTCTCCTCCCCTC CT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp2 HG01884.hp2 others(22): Show HG00438.hp1 HG01255.hp2 HG01884.hp2 HG02109.hp1 HG02572.hp2 HG02622.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18979.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0030 a0001c0037 a0001c0038	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0011t0006 a0001c0012t0011 a0001c0021t0002 a0001c0022t0001 a0001c0025t0004 a0001c0026t0009 a0001c0030t0001 a0001c0037t0004 a0001c0038t0010	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0061 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0003g0058 a0001c0001t0012g0063 a0001c0002t0001g0020 a0001c0002t0001g0039 a0001c0002t0002g0091 a0001c0002t0004g0001 a0001c0003t0001g0026 a0001c0005t0001g0005 a0001c0006t0001g0017 a0001c0009t0001g0013 a0001c0011t0001g0109 a0001c0011t0006g0056 a0001c0012t0011g0036 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0025t0004g0106 a0001c0026t0009g0073 a0001c0030t0001g0028 a0001c0037t0004g0019 a0001c0038t0010g0059	25	27	0.9259	401	c.255 others(418): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCC TGTCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCT TCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(394): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCTCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCC TCCTCTCCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCCCTC CT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20300.hp1 HG02486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0001g0068 a0001c0001t0002g0003	2	4	0.5000	401	c.255 others(418): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCTCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCC TATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCT TCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(394): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCTCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCC TCCTCTCCCCTCCCCTCCTCTCCTGTCCTTTCTTCTCCTCTCCTCCCCTC CT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	3	0.3333	401	c.255 others(418): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCTCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCC TGTCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCT TCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMKK2_chr12_121232692_121301709	121255316	T T	TTATATAT others(394): Show TTATATATATAATTATATATATAATTATATATATATAATTATATATATAT AATTATATATTTTTATATATATAATTATATATATAATTTTATATATATAT AATTATATATAATTATATATATATAATTATATATATTATATATATAATTA TATATATATATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATATAAAATTATATATATAATTTTATAT ATAAAATTATATATATAATTTTATATATATAATTATATATATAATTTTAT ATATATAATTATATATATATAATTTTATATATATATAATTATATATATAA AATTATATATATAATTATATATATATAAAATTTATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	319	0.0031	401	c.907 others(416): Show c.907+233_907+234insTATATATATATATATATATAAATTTTATAT ATATATAATTATATATATAATTTTATATATATAATTATATATATATAAAA TTATATATATATAATTATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATAT ATATATAATTATATATATAAAATTATATATATAATTATATATATATAAAA TTATATATATAATATATATATATAATTATATATATAATATATATAATTAT ATATATATAATTATATATAATTATATATATATAAAATTATATATATAATT ATATATATAAAAATATATAATTATATATATATAATTATATATATATAATT ATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	92	0.0109	401	c.154 others(420): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18962.hp2 NA19083.hp1 others(1): Show HG00408.hp1 NA18962.hp2 NA19083.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0002g0246	4	95	0.0421	401	c.154 others(420): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATATAATATATATTATATTATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	92	0.0109	401	c.154 others(420): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATATAATATATATTATATTA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(394): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATATAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	92	0.0109	401	c.154 others(420): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATATAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(394): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCCTCCCTCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCTCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCT CT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0016 a0001c0001t0019g0016	1	12	0.0833	401	c.-45 others(422): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCCTCCCTCCCTCCCCTCCCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCTCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61444267	G G	GTGTCTCC others(394): Show GTGTCTCCGTGTGTCTTTGTGTGTGTAATGTGTGTTTGTGTATCTGTGTA TGAGTCTTTGTGTGTGTTTCTGTGTATCTGTGTGTGTCCATGTCTATGTG TGTCTGTGTGTGTATGTATGTCTGGGTGTATATCTGTGTGTGTGTCTTTG CGTTCACCTGTGTGTGTGTGCATCTGTGTGTACATTTGTGTGTTTCTGCA TGTGTGTGTCTGCGTACATCTGTGTCTGTGTGTATATTTGTGTATCCGTA TGTATGTGTATCTGTGTGTGTCTTTGTGTACATCCGTGTCTGTGTGTATA TTTGTATCTGTGTGTTTCTCTGTGTGCATCTGTGTATATTTGTGAGTTTC TGCATGTGTGTGTGTGTCTGTGTGTGTGTCTGTGTATCTATTTGTATGTA TC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG02148.hp2 others(5): Show HG00423.hp2 HG01243.hp2 HG02148.hp2 HG02922.hp1 HG03453.hp2 HG03579.hp1 NA18941.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0023 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0044 a0001c0003t0035 others(4): Show a0001c0001t0001 a0001c0001t0044 a0001c0003t0035 a0001c0007t0009 a0001c0023t0042 a0002c0005t0019 a0002c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0044g0085 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0044g0085 a0001c0003t0035g0043 a0001c0007t0009g0017 a0001c0023t0042g0084 a0002c0005t0019g0056 a0002c0008t0001g0028	8	99	0.0808	401	c.169 others(422): Show c.169+189333_169+189334insCTCCGTGTGTCTTTGTGTGTGTAA TGTGTGTTTGTGTATCTGTGTATGAGTCTTTGTGTGTGTTTCTGTGTATC TGTGTGTGTCCATGTCTATGTGTGTCTGTGTGTGTATGTATGTCTGGGTG TATATCTGTGTGTGTGTCTTTGCGTTCACCTGTGTGTGTGTGCATCTGTG TGTACATTTGTGTGTTTCTGCATGTGTGTGTCTGCGTACATCTGTGTCTG TGTGTATATTTGTGTATCCGTATGTATGTGTATCTGTGTGTGTCTTTGTG TACATCCGTGTCTGTGTGTATATTTGTATCTGTGTGTTTCTCTGTGTGCA TCTGTGTATATTTGTGAGTTTCTGCATGTGTGTGTGTGTCTGTGTGTGTG TCTGTGTATCTATTTGTATGTATCTGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(394): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	8	0.1250	401	c.69 others(412): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CMIP_chr16_81439808_81716762	81704325	T T	TCTCCTCC others(394): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCC TGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTC CCCCTCCTCCCTGCCCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCT GCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCAC CCTCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCC TGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTC CCCCTCCCTCCCTGCCCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCA CC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	253	0.0040	401	c.209 others(418): Show c.2091+475_2091+476insCTTACTCTCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCCTCCCTG CCCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCC CCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCC TCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTG CCCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCC CACTCACCCTCCTCCCTGCCCCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(394): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGG AAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGG ACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGACGGGAGGGGGG AGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAA GGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAG GGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGG AGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGG GA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	189	0.0053	401	c.637 others(416): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCC CTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCC CTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCT CCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCCTCCCCC CTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(394): Show AGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGG TGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTG GTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGT GGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGG TGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGG TACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGT GGTGGTGGCAGTGGCACTTGGTGGTGGTGGTGCTTGGTGGTGGTGATGGT ACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGG TG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	20	0.0500	401	c.-9- others(414): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGT GGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGG TGGTACTTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTT GGTGGTGGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGT GGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGG TGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTG GCGGTACTTGGTGGTGGTGGCAGTGGCACTTGGTGGTGGTGGTGCTTGGT GGTGGTGATGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGT GGTACTTGGTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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