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
CCDC183_chr9_136791338_136812741	136802807	T T	TGGGGGCC others(469): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	375	0.0027	476	c.666 others(491): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802816	C C	CCCAGGGC others(469): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCTCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	396	0.0025	476	c.666 others(489): Show c.666+88_666+89insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(469): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19058.hp2 NA18957.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0123 a0001c0001t0001g0002 a0001c0001t0001g0123	2	244	0.0082	476	c.666 others(491): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(469): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	12	0.0833	476	c.-45 others(497): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(469): Show CATACATATATACATATGTGTGTATACACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTGTATGCACATACATATA TACATATGTGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACATACATATATACATATGTGTGTG TATACACACATATATACATATGTGTGTGTATACACACACACATATGTATA TATGTATGTGTATACACACACATATATGTATATATGTATGTGCATACACA CACACACGTATATATGTATGTGTATACACATACATATATACATATGTGTG TGTATACACATACATATATACGTGTGTGTGTGTATGCACATACACATATA CATATATGTGTGTGTATACACATACATATATACATATGTGTGTATACACA CATATATACATATGTGTGTATACACAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	63	0.0159	476	c.253 others(495): Show c.253-58756_253-58755insATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACATATAT GTATATGTGTATGTGCATACACACACACACGTATATATGTATGTGTATAC ACACACATATGTATATATGTATGTGTATACACATACATATATACGTGTGT GTGTGTATGCACATACATATATACATATATGTGTGTGTATACACATACAT ATATACATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTAT ACACACACATATGTATATATGTATGTGTATACACACATATGTATATATGT GTGTATACACACATATGTATATATGTATGTGTATACACACACACATATGT ATATATGTATGTGCATACACACACATATGTATATATGTATGTGTATACAC ACACACATATGTATATATGTATGTGTATACACACATATGTATATATGTAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(469): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTGTATGCACATACATATATACATATGTGTGTGT GTATGCACATACATATATACATATGTGTGTATACACATACATATATACAT ATGTGTGTATACACACATATATACATATGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACATGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	143	0.0070	476	c.253 others(495): Show c.253-58771_253-58770insTATGTATATATGTATGTGTATACACA CATATGTATATATGTGTGTATACACACATATGTATATATGTATGTGTATA CACACACATATATGTATATGTGTATGTGCATACACACACACACATGTATA TATGTATGTGTATACACACACATATGTATATATGTATGTGTATACACATA CATATATACATGTGTGTGTGTGTATGCACATACATATATACATATATGTG TGTGTATACACATACATATATACATATGTGTGTGTGTATACACACACATA TGTATATATGTGTGTATACACACATATGTATATATGTGTGTATACACACA TATGTATATATGTATGTGTATACACACATATGTATATATGTATGTGCATA CACACACACATATGTATATATGTATGTGCATACACACACACATATGTATA TATGTATGTGTATACACACACACATATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(469): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0064 a0001c0003t0005g0064	1	2	0.5000	476	c.75- others(493): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCC	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(469): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18945.hp1 NA19067.hp2 NA18943.hp1 NA18945.hp1 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0001 a0001c0002t0001g0005	3	10	0.3000	476	c.69 others(487): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTC CTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(469): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC ATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACAC GTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATAT ACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATAC ACGTATATATACTCATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	353	0.0028	476	c.894 others(491): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACACGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0092 a0012c0015t0001g0092	1	213	0.0047	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01255.hp1 NA19081.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0002c0002t0001 a0007c0010t0001 a0001c0001t0001 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0125 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0125 a0002c0002t0001g0085 a0007c0010t0001g0010	6	218	0.0275	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG02622.hp1 HG00733.hp1 HG00735.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0191 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0191	3	215	0.0140	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 NA19064.hp2 HG00642.hp1 HG01167.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0211 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0211	3	215	0.0140	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01496.hp2 HG00544.hp1 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0097 a0002c0002t0001g0066 a0002c0002t0001g0097	2	214	0.0093	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	213	0.0047	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACACGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(469): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACGTGTATATATACTCA TATACATCTGTATATATACGTGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATA TACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	213	0.0047	476	c.894 others(491): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACACGTATAT ATACACATGTATATGAGTATATATACACGTATATATACAGATGTATATGA GTATATATACACGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(469): Show CAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGAGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGCAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0266 a0002c0015t0004g0266	1	273	0.0037	476	c.85- others(493): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTGCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCTCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTGCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(469): Show TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	329	0.0030	476	c.51+ others(491): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(469): Show GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGG AGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGG AGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAG AAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGG AGGGGAGAAGAAGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	52	0.0192	476	c.158 others(493): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCT CCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCT CCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTT CTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478270	A A	AGGGGAGG others(469): Show AGGGGAGGGAGGGGAGGGGAGGGAGTAGGGAGGGGAGGGGTGGGGAGGGG AGGGGAGGGGAGGGGTGAAGGGAGGGGAGGGGGGGGAGGGGAGAAGAAGG GAGGGGAGGGGAGGGGAGAAGAAGGAGGGAGGGGGAGGGGAGGGGAGAAG AAGGGAGGGGAGGGGAGGGGGAGGGGAGAAGAAGGGAGGGGAGGGAGAAG AAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAGA AGGGAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAG GGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAG AAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAAAA GGGAGGGGAGAAGAAGGGAGGAGAGGGGAGGGGAGGGGAGAAGAAGGGAG GGAGGGGAGGGGAGGGGAGGGGTGAGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	86	0.0116	476	c.158 others(493): Show c.158-5722_158-5721insCCTCACCCCTCCCCTCCCCTCCCCTCCC TCCCTTCTTCTCCCCTCCCCTCCCCTCTCCTCCCTTCTTCTCCCCTCCCT TTTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTC TCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCC TCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTCCCTT CTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTC TTCTCCCTCCCCTCCCTTCTTCTCCCCTCCCCCTCCCCTCCCCTCCCTTC TTCTCCCCTCCCCTCCCCCTCCCTCCTTCTTCTCCCCTCCCCTCCCCTCC CTTCTTCTCCCCTCCCCCCCCTCCCCTCCCTTCACCCCTCCCCTCCCCTC CCCTCCCCACCCCTCCCCTCCCTACTCCCTCCCCTCCCCTCCCTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	4087067	A A	ATATATAC others(469): Show ATATATACACATATGTATATACACACATATATACACATATGTATATACAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACACATATATACACATATGTATATACACACATATATACACATATGTATAT ACACACATATATACACATATGTATATACACACATATATACACATATGTAT ATACACACATATATACACATATGTATATACACACATATATACACATATGT ATATACACACATATATACACATATGTATATACACACATATACATATATGT ATATATACACATATATACATATATGTATATATACACATATATACATATAT GTATATATACACATATATACATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0040 a0001c0003t0010g0040	1	78	0.0128	476	c.-15 others(497): Show c.-159+64112_-159+64113insCATATATGTATATATGTGTATATA TACATATATGTATATATGTGTATATATACATATATGTATATATGTGTATA TATACATATATGTATATGTGTGTATATACATATGTGTATATATGTGTGTA TATACATATGTGTATATATGTGTGTATATACATATGTGTATATATGTGTG TATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATGTG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATA TGTGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATA TGTGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATA TGTGTGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATA TA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(469): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTC CACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	52	0.0192	476	c.13 others(487): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGG GTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGG TGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGG GTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGG others(469): Show GGGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGA GGTGGGGGGAGGAGCAAATGTGGAGGTGAGGGGAGGAGCAAATGTGGAGG TGCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAG GTGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTG GAGGTGTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGC TTGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGA CTGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCATGGAGGTGGGG AGGTTGGAGCAAGTGTGGAGGTGGGGGGATTGGAGCAAATGTGGATGTGC TGCGGGGGAAGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGGT GCTGGGGGGAGGAGCAAGCGTGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0038 a0002c0004t0038	a0002c0004t0038g0159 a0002c0004t0038g0159	1	302	0.0033	476	c.49 others(487): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCCACCTCCACGCTTGCTCTTCCCCCGCAGCACATC CACATTTGCTCCAATCCCCCCACCTCCACACTTGCTCCAACCTCCCCACC TCCATGCTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCAGTCCCAAC CTCCACCTTGCTCCTCCCCCCAGCACCTCCACGCTTGCGCCAAGCCCCCC ACCTCCACGCTTGCACATCCACACTTGCTTCTCCCAACACCTCCACGCTT GCTCTTCCCCCACTATCTCCACACCTGCTCCTCCCCCCAGCACCTCCACA TTTGCTCCTCCCCCCACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCAC ATTTGCTCCTCCCCTCACCTCCACATTTGCTCCTCCCCCCACCTCCACGC TTGCTTCTCCCCCCAGCACCTCCACATTTGCTCCTCCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745155	A A	AGGCAAGC others(469): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCT ATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCG GGCTGTTCACACTCACCTATCTAATGAGACAGGGTCAGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTC ACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAG GCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGG CATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAG ACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCAC ACTCACCTATCTAATGAGACAGGGTCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03225.hp2 others(1): Show HG02572.hp1 HG02723.hp1 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0011 a0001c0006t0009 a0001c0006t0011	a0001c0006t0009g0224 a0001c0006t0011g0222 a0001c0006t0011g0223 others(1): Show a0001c0006t0009g0224 a0001c0006t0011g0222 a0001c0006t0011g0223 a0001c0006t0011g0225	4	342	0.0117	476	c.164 others(495): Show c.1645-1478_1645-1477insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGG CCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGG TGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGAC CCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGG TCATGCCGCTTGCCTGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGC CCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745186	C C	CGGCTGTT others(469): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACA GGGTCAGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCA AGCGGCATGACCAGGTCTCCTAGGCCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0014g0220 a0001c0001t0014g0221	2	366	0.0055	476	c.164 others(495): Show c.1645-1509_1645-1508insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCTGACC CTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGT CATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(469): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCA AGCGGCATGACCAGGTCTCCTAGGCCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 NA20805.hp1 HG01175.hp1 HG01361.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0019 a0003c0003t0004 a0003c0003t0019	a0003c0003t0004g0198 a0003c0003t0004g0200 a0003c0003t0019g0006 a0003c0003t0004g0198 a0003c0003t0004g0200 a0003c0003t0019g0006	3	179	0.0168	476	c.164 others(495): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCC CTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGT CATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(469): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATATA GTATATATACACTATATATATAGTATATATACACTATATATACACTATAT ATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTGTA TATGTATATATAGTGTATATATACACTGTATATGTATATATAGTGTATAT ATACACTATATATACACTGTATATGTATATATAGTGTATATATACACTAT ACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGT ATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTAT ATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	150	0.0067	476	c.114 others(495): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATACAT ATACAGTGTATATATACACTATATATACACTATATATGTATATATATACA TATATAGTGTATATATAGTGTATATATACTATATATATAGTGTATATATA CTATATATATAGTGTATATATACTATATATATAGTGTATATATACTATAT ATATAGTGTATATATACTATATATATAGTGTATATATACTATATATAGTG TATATATACTATACATATATAGTGTATATATAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(469): Show TTATATATAAATATATATAAATATACATTTATATATAAATATATATAAAT ATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATAT AAATATACATGTATATTTATTCATATATAAATATATATAAATATACATGT ATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCAT ATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATAT ATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATAT ATATAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0056 a0001c0002t0009g0056	1	70	0.0143	476	c.-97 others(493): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(469): Show TTATATATAAATATATATAAATATACATTTATATATAAATATATATAAAT ATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATAT AAATATACATGTATATTTATTCATATATAAATATATATAAATATACATGT ATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCAT ATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATAT ATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ATATATAAATATATATAAATATACATGTATATTTATTCACATATAAATAT ATATAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02976.hp1 others(1): Show HG02486.hp1 HG02559.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0021 a0001c0002t0009 a0001c0002t0021	a0001c0002t0009g0053 a0001c0002t0009g0054 a0001c0002t0009g0055 others(1): Show a0001c0002t0009g0053 a0001c0002t0009g0054 a0001c0002t0009g0055 a0001c0002t0021g0052	4	73	0.0548	476	c.-97 others(493): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(469): Show TAGTAACTATATTAATATTATAGTTAGTATATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTATATTAATATATAGTAACTATATTAATAATATAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0203 a0005c0011t0004g0203	1	134	0.0075	476	c.-28 others(487): Show c.-2852_-2851insAGTAACTATATTAATATTATAGTTAGTATATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAATAATA TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCC others(469): Show TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTC CTTCCTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(66): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2 HG03942.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA19043.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0003t0003 a0001c0004t0002 a0005c0010t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 others(66): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0301 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0004g0165 a0001c0001t0004g0184 a0001c0001t0007g0156 a0001c0001t0007g0287 a0001c0001t0009g0182 a0001c0002t0001g0045 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0138 a0001c0002t0005g0121 a0001c0002t0005g0125 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0008g0130 a0001c0002t0008g0131 a0001c0002t0008g0133 a0001c0002t0008g0143 a0001c0003t0003g0018 a0001c0003t0003g0021 a0001c0004t0002g0154 a0001c0004t0002g0155 a0001c0004t0002g0181 a0001c0004t0002g0186 a0005c0010t0001g0042	69	312	0.2212	476	c.485 others(493): Show c.485+4045_485+4046insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCC others(469): Show TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTTCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTC CTTCCTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18960.hp2 NA18946.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0195 a0001c0001t0001g0196	2	245	0.0082	476	c.485 others(493): Show c.485+4045_485+4046insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTTCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(469): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACAAACACAACCACACACACCAC ACATACCACACACACACCACACATACCACACACACACCACACACACAACC ACACACACCACACCATACACACAACCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01257.hp1 others(9): Show HG00099.hp2 HG00642.hp2 HG01257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02922.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0021 a0001c0032 a0001c0047 a0001c0050	a0001c0001t0159 a0001c0002t0028 a0001c0003t0134 others(8): Show a0001c0001t0159 a0001c0002t0028 a0001c0003t0134 a0001c0005t0019 a0001c0005t0028 a0001c0006t0016 a0001c0006t0051 a0001c0021t0160 a0001c0032t0088 a0001c0047t0084 a0001c0050t0023	a0001c0001t0159g0290 a0001c0002t0028g0238 a0001c0003t0134g0140 others(9): Show a0001c0001t0159g0290 a0001c0002t0028g0238 a0001c0003t0134g0140 a0001c0005t0019g0031 a0001c0005t0019g0043 a0001c0005t0028g0115 a0001c0006t0016g0105 a0001c0006t0051g0028 a0001c0021t0160g0293 a0001c0032t0088g0097 a0001c0047t0084g0141 a0001c0050t0023g0066	12	20	0.6000	476	c.203 others(493): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTGGTTGTGTTTGTGGTGTGTGTATGTGTGGTCTGTTGTGTG TTGTGTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTGGTGTGTGTGGTATG TGTGGTGTGTGTGTATGGTGTGTGTTTGTGGTGTGTGGTGTGTGTATGTG TGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGTGTGGTT GTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTGTGTGGT GTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGATTTGTGT GGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGTGTGTGT GTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(469): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATAATTCTATATATATAATATATATTATATATATTCTATATATATA ATATATATTATATATATAATTCTATATATATAATATATATTATATATATA TTCTATATATATAATATATATTATATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATAATTCTATATATATAATATATATTATATATATAATTCTATATAT ATAATATATATTATATATATAATTCTATATATATAATATATATTATATAT ATAATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	4	0.2500	476	c.62- others(495): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATAGAATTATATATATAAT ATATATTATATATATAGAATTATATATATAATATATATTATATATATAGA ATATATATATAATATATATTATATATATAGAATTATATATATAATATATA TTATATATATAGAATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(469): Show TAGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGTGCATGTGTATCCAT GTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGT GTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTGC ATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCATG TGTGTATATGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTGTA TTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTGTA TGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTGCA TGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTG TACATGTATGTATACGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTA TGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02257.hp1 HG00099.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0001 a0001c0001t0037g0014 a0001c0001t0011g0001 a0001c0001t0037g0014	2	27	0.0741	476	c.946 others(493): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACGTATACATACATGTAC ACACACATGCATACACATACACACAAGTACATAGACACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACATATACACAC ATGCAACACAAATACACATACACACAGGTATACACACATGCCCATACATG CACACACATGCATACACATGCACACACAAATACATATACGTGTATACACA CATACATGCACGCACGTGCATACACATGCACACACAAATATACACACACA TGGATACACATGCACACACATATACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(469): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCCAT GTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTGTGT GTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGT GCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCACGTGTG TATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTGTA TTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTGTA TGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTGCA TGTGTATATATGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTACA TGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTA TGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0152 a0001c0001t0081g0152	1	26	0.0385	476	c.946 others(493): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACGTGCAACACAAATACACACAGGTATACACACATGCCCATACATGCA CACACATGCATACACATGCACACACAAATACATATACGTGTATACACACA CACACATGCACGCACGTGCATACACATGCACACACAAATATACACACACA TGGATACACATGCACACATATACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(469): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTAT GTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGT GTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATGTG TGTATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTGTA TTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTGTA TGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTATGTGTGCATG TGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTACA TGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTA TGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0008 a0001c0001t0126g0008	1	26	0.0385	476	c.946 others(493): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATACAC ACATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCACA CACATGCATACACATGCACACACAAATACATATACGTGTATACACACACA TACATGCACGCACGTGCATACACATGCACACACAAATATACACACACATG GATACACATGCACACATATACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(469): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTGT GTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGT GCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATGTGTG TATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTATGTGTA TTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTGTA TGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTGCA TGTGTATATATGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTACA TGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTA TGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0102 a0001c0001t0028g0102	1	26	0.0385	476	c.946 others(493): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACATACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCA CACACATGCATACACATGCACACACAAATACATATACGTGTATACACACA CACATGCACGCACGTGCATACACATGCACACACAAATATACACACACATG GATACACATGCACACATATACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(469): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTAT CCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGT ATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGT GTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCATG TGTGTATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTATGTGTATG CATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTGCATG TGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGTGTGTACA TGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTA TGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0023 a0001c0001t0022g0023	1	26	0.0385	476	c.946 others(493): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACATGCATACACGTGCACATGTAAATACACACGCACAAATAC ACGTACACACAGGTATACACATGCACATGTAAATACACACACATACACAC ATGCAACACAAATACACACAGGTATACACACATGCCCATACATGCACACA CATGCATACACATGCACACACAAATACATATACGTGTATACACACACATA CATGCACGCACGTGCATACACATGCACACACAAATATACACACACATGGA TACACATGCACACATATACACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(469): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0055	1	217	0.0046	476	c.174 others(495): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAP3_chr4_17572198_17612970	17580165	C C	CATATATA others(469): Show CATATATATATATACACATATATATATATATATATATATACATACATATA TATATATATACATACATATATATATATATACATACATACATATATATACA TACATACATATATATATATATACATACATATATATATATACATACATATA TATATATACATACATATATATATATATACACATACATATATATATACATA CATATATATATATATACATACATATATATATATACATACATATATATATA TACACATACATATATATATACATACATATATATATATACACATATATATA TATACATACATATATATACACATACATATATATATATACACATACATATA TATATATACACATACATATATATATACACATATATATATATACACACATA TATATATATACACATATATATATACACATATACATATATATATATACATA CACATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0119 a0001c0004t0001g0119	1	253	0.0040	476	c.218 others(491): Show c.218+239_218+240insCACATATATATATATATATATATATACATA CATATATATATATATACATACATATATATATATATACATACATACATATA TATACATACATACATATATATATATATACATACATATATATATATACATA CATATATATATATACATACATATATATATATATACACATACATATATATA TACATACATATATATATATATACATACATATATATATATACATACATATA TATATATACACATACATATATATATACATACATATATATATATACACATA TATATATATACATACATATATATACACATACATATATATATATACACATA CATATATATATATACACATACATATATATATACACATATATATATATACA CACATATATATATATACACATATATATATACACATATACATATATATATA TACATACACATATATATATATATATATGTATATATATATATATATA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LBP_chr20_38341482_38382013	38379056	T T	TGGGGGGG others(469): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCCTTTGCCTGGCCGCCCCTA CTGGGAAGTGAGGTGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0097 a0001c0014t0003g0097	1	189	0.0053	476	c.23 others(487): Show c.2387_*2388insGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCCTTT GCCTGGCCGCCCCTACTGGGAAGTGAGGTGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2044		chr20	TogoVar
LINGO2_chr9_27932617_29218601	28189273	A A	AAGGAAGG others(469): Show AAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGTAAGGGAGG GAGGAAGGAAGGAAGGAAGGGAGGGAGGGAAGAAGGAAGGGAGGGAGGAA GGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGG GAAGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAAGAAGGAAGG GAGGGAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGGAGGAAGGAAGGAAGTGAGGGAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGTGAGGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	61	0.0164	476	c.-36 others(497): Show c.-36+105934_-36+105935insCCCTTCCTTCCTCCCTCACTTCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCACTTCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTTCTTCCCTCCCTTCCTTCTTCCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC TTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCTTCCCTCCCTCCCTTCCTTCCTTCCTTC CTCCCTCCCTTACTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCT TCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRP1B_chr2_140226423_142136016	141095338	T T	TGATAGGT others(469): Show TGATAGGTTCTCTTTATTTTTTTTTTTTTTATTTTTTTTTTTTTTGATCT TAAATATTTTAATAGCTGCATTAAAAAAGTAAAAAAAGAATAAGTCAATT TAGTAATACATTTAATTTTACCCAATATGAAAATATATTACAACGTAATG ATAAGTATGTGAGGCGAAGGATATGTTAATTAGCCTAATTTAATCATACC ACATTGTATACATGTATCATTTTTTTTTTTTTTAATTTTTTTTTTTTATT ATACTCTAAGCTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA TGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAG CATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACC ACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATT GTTCAATTCCCACCTAAACTATCGCAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0005 a0001c0012t0003g0005	1	19	0.0526	476	c.101 others(497): Show c.1014-33066_1014-33065insTTGCGATAGTTTAGGTGGGAATTG AACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAGCTTAGAG TATAATAAAAAAAAAAAATTAAAAAAAAAAAAAATGATACATGTATACAA TGTGGTATGATTAAATTAGGCTAATTAACATATCCTTCGCCTCACATACT TATCATTACGTTGTAATATATTTTCATATTGGGTAAAATTAAATGTATTA CTAAATTGACTTATTCTTTTTTTACTTTTTTAATGCAGCTATTAAAATAT TTAAGATCAAAAAAAAAAAAAATAAAAAAAAAAAAAATAAAGAGAACCTA TC	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP8_chr1_53237364_53333070	53284187	C C	CGGGCCGC others(469): Show CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0101 a0003c0005t0002g0101	1	289	0.0035	476	c.368 others(493): Show c.368-3473_368-3472insAGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(469): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGC GGCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0231 a0002c0003t0002g0231	1	45	0.0222	476	c.171 others(493): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTG ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGG GGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(469): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG02132.hp1 others(14): Show HG00733.hp2 HG01070.hp2 HG02132.hp1 HG02293.hp1 HG02486.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG03017.hp1 HG03130.hp2 HG03579.hp2 HG03654.hp1 NA18974.hp2 NA18995.hp2 NA19063.hp2 NA19079.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0006 a0009 a0012 a0014	a0001c0001 a0003c0003 a0004c0004 others(4): Show a0001c0001 a0003c0003 a0004c0004 a0006c0008 a0009c0027 a0012c0014 a0014c0028	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(4): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0006c0008t0001 a0009c0027t0001 a0012c0014t0001 a0014c0028t0007	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0134 others(14): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0184 a0001c0001t0001g0218 a0001c0001t0001g0272 a0003c0003t0001g0036 a0004c0004t0001g0101 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0166 a0006c0008t0001g0068 a0006c0008t0001g0075 a0009c0027t0001g0074 a0012c0014t0001g0133 a0014c0028t0007g0076	17	63	0.2698	476	c.483 others(491): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75906505	A A	AATATATA others(469): Show AATATATATACATATTATATATATTATATATATACATATATATGTATATA TACATATATAATATGTATATATGTATATATATGTATAATATATATATTGT ATATATATATTATACATATGTATATATATATTATACATATATATATGTAT AATATATATAATGTATATATATACATATTATATATTATATATAATATATA CAAATATATTATATATAATATATACATATTATATATTATATATATAATAT ATATACATATTATATTATATATAATATATATACATATTACATATATTATA TATAATATATATACATATATAATATATTATATATTATATATATTATATAT AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATATATTATATATTATATATAATATATAATATATTA TATATTATATATAATATATTATATATC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	314	0.0032	476	c.262 others(495): Show c.2620-6191_2620-6190insATATATATACATATTATATATATTAT ATATATACATATATATGTATATATACATATATAATATGTATATATGTATA TATATGTATAATATATATATTGTATATATATATTATACATATGTATATAT ATATTATACATATATATATGTATAATATATATAATGTATATATATACATA TTATATATTATATATAATATATACAAATATATTATATATAATATATACAT ATTATATATTATATATATAATATATATACATATTATATTATATATAATAT ATATACATATTACATATATTATATATAATATATATACATATATAATATAT TATATATTATATATATTATATATAATATATAATATATTATATATTATATA TAATATATAATATATTATATATTATATATAATATATAATATATTATATAT TATATATAATATATAATATATTATATATTATATATAATATATTATATATC	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906505	A A	AATATATA others(469): Show AATATATATACATATTATATATATTATATATATACATATATATGTATATA TACATATATAATATGTATATATGTATATATATGTATAATATATATATTGT ATATATATATTATACATATGTATATATATATTATACATATATATATGTAT AATATATATAATGTATATATATACATATTATATATTATATATAATATATA CATATATATTATATATAATATATACATATTATATATTATATATATAATAT ATATACATATTATATTATATATAATATATATACATATTACATATATTATA TATAATATATATACATATATAATATATTATATATTATATATATTATATAT AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATATATTATATATTATATATAATATATAATATATTA TATATTATATATAATATATTATATATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	314	0.0032	476	c.262 others(495): Show c.2620-6191_2620-6190insATATATATACATATTATATATATTAT ATATATACATATATATGTATATATACATATATAATATGTATATATGTATA TATATGTATAATATATATATTGTATATATATATTATACATATGTATATAT ATATTATACATATATATATGTATAATATATATAATGTATATATATACATA TTATATATTATATATAATATATACATATATATTATATATAATATATACAT ATTATATATTATATATATAATATATATACATATTATATTATATATAATAT ATATACATATTACATATATTATATATAATATATATACATATATAATATAT TATATATTATATATATTATATATAATATATAATATATTATATATTATATA TAATATATAATATATTATATATTATATATAATATATAATATATTATATAT TATATATAATATATAATATATTATATATTATATATAATATATTATATATC	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(469): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0025 a0001c0016t0025	a0001c0016t0025g0182 a0001c0016t0025g0182	1	238	0.0042	476	c.358 others(493): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar

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