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
C2CD4C_chr19_400445_414147	404154	T T	TCTGAGGG others(686): Show TCTGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAACGGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT GTGTGGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGG TCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTCT GAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCT GCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA GGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTG CCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGG GGGTACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGAGGG GGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCC CTGAGGGGTGTGGAGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGAGGG GGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAAACGGGGTCCTGCCC TGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCTGAGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	319	0.0031	693	c.29 others(704): Show c.2941_*2942insCACACCCCTCAGGACAGGACCCCGTCCCCCCCTC ACACCCCTCAGGGCAGGACCCCGTTTCCCCCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCCA CACCCCTCAGGGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGG ACCCCATCCCCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCA CACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGA CCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACA CCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACC CCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACAC CCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCC GTACCCCCTCAGACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCT CAGGGCAGGACCCCATCCCCCCCCCACACCCCTCAGGGCAGGACCCCATC CCCCCCACACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTC AGGGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTC CCCCCTCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1290		chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(686): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATATAATTATATATATAATTTTATATATATATAATTAT ATATATAATTTTATATATATATAATTATATATATTTATATATATATAATT ATATATATATATAAAATTATATATATAATTATATATATATTATATATAAT TATATATATAATTTTATATATATAATTATATATATTTATATATATATATA ATTATATATATATATAAAATTATATATATAATTATATATATATTATATAT AATTATATATATATATTATATATAATTTTATATATATAATTATATATATA ATTTTATATATATAATTTTATATATATAATTTTATATATATAATTTTATA TATATAATTATATATATAATTTTATATATATATAATTATATATATAATTT TATATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTATATATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATAATTATATATATAAAATTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	94	0.0106	693	c.907 others(708): Show c.907+327_907+328insATTATATATATATAATTTTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TAAAATTATATATATAATTATATATATATATAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAAAATTATATATATAAAAT TATATATATAAAATTATATATATAATTATATATATAAAATTATATATAAT ATATATATATAATTATATATAATATATATATAATTATATATATAATTTTA TATATATATATAATTATATATATATATAAATATATATAATTATATATATA AAATTATATATATAATTATATATAATATATATATAATTATATATATAATT TTATATATATATATAATTATATATATATAAATATATATAATTATATATAT ATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTAT ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAT AATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(686): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	121	0.0083	693	c.212 others(710): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914226	G G	GCCCGAGG others(686): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0211 a0015c0022t0001g0211	1	239	0.0042	693	c.212 others(710): Show c.2121-969_2121-968insGCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914457	C C	CCCCGAGG others(686): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0203 a0018c0020t0001g0203	1	138	0.0072	693	c.212 others(712): Show c.2121-1200_2121-1199insCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CMIP_chr16_81439808_81716762	81704601	C C	CCCCCCAC others(686): Show CCCCCCACCCACTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCC CCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTC CTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTC CCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTC CTCCCTCACCCTCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTC ACCCTTCTCCCTGCCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCCCTACCCCTCACCCTCCTCCCTGCCCCTTCA TCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCC CTGCTCCCTCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTC ACCTTCCTCCCTGCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCCTCC CTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	213	0.0047	693	c.209 others(710): Show c.2091+517_2091+518insCCCCACCCACTCACCCTCCTCCCTGCCC CCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCCACCCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCC CTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCT CCTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCCCCC GTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCCTCACCCCCCTC CCTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTACCCCTCA CCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCC TGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCAGTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCTCCTCC CTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCCTC CCTACCCCTTCATTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704601	C C	CCCCCCAC others(686): Show CCCCCCACCCACTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCC CCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTC CTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTC CCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTC CTCCCTCACCCTCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTC ACCCTTCTCCCTGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCC TGCCCCCTCACCCTCCTCCCTACCCCTCACCCTCCTCCCTGCCCCTTCAT CCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCC TGCTCCCTCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCTCA CCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCAC CTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTC ACCTTCCTCCCTGCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCCTCC CTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	213	0.0047	693	c.209 others(710): Show c.2091+517_2091+518insCCCCACCCACTCACCCTCCTCCCTGCCC CCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCCACCCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCC CTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCT CCTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCCCCC GTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCCCTCC CTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTACCCCTCAC CCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCT GCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCAGTGCCCCCTCA CCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCC TGCCCCCTCACCCTCCTCACCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCTCCTCC CTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCCTC CCTACCCCTTCATTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTNND2_chr5_10966836_11909446	11144040	G G	GCACCAGC others(686): Show GCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTACACCAG CTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTGCACCAGCTAGGGG TTTCTACCATAGGGGCAGTCCCCAGGTCTACACCAGCTAGGGGTTTCTAC CATAGGGGCTTGTCCCCAGGTCTGCACCAGCTAGGGGTTCCTACCATAGG GGCAGTCCCCAGGTCTACACCAGCTAGGGGTTTCTACCATAGGGGCTTGT CCCCAGGTCTGCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGG TCTACACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTGCAC CAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTACACCAGCTAG GGGTTTCTACCATAGGGGCTTGTCCCCAGGTCTGCACCAGCTAGGGGTTT CTACCATAGGGGCAGTCCCCAGGTCTGCACCAGCTAGGGGTTTCTACCAT AGGGGCAGTCCCCAGGTCTACACCAGCTAGGGGTTTCTACCATAGGGGCT TGTCCCCAGGTCTGCACCAGCTAGGGGTTCCTACCATAGGGGCAGTCCCC AGGTCTACACCAGCTAGGGGTTTCTACCATAGGGGCTTGTCCCCAGGTCT GCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	22	0.0455	693	c.215 others(714): Show c.2159+15535_2159+15536insTAGACCTGGGGACTGCCCCTATGG TAGAAACCCCTAGCTGGTGCAGACCTGGGGACAAGCCCCTATGGTAGAAA CCCCTAGCTGGTGTAGACCTGGGGACTGCCCCTATGGTAGGAACCCCTAG CTGGTGCAGACCTGGGGACAAGCCCCTATGGTAGAAACCCCTAGCTGGTG TAGACCTGGGGACTGCCCCTATGGTAGAAACCCCTAGCTGGTGCAGACCT GGGGACTGCCCCTATGGTAGAAACCCCTAGCTGGTGCAGACCTGGGGACA AGCCCCTATGGTAGAAACCCCTAGCTGGTGTAGACCTGGGGACTGCCCCT ATGGTAGAAACCCCTAGCTGGTGCAGACCTGGGGACTGCCCCTATGGTAG AAACCCCTAGCTGGTGTAGACCTGGGGACTGCCCCTATGGTAGAAACCCC TAGCTGGTGCAGACCTGGGGACAAGCCCCTATGGTAGAAACCCCTAGCTG GTGTAGACCTGGGGACTGCCCCTATGGTAGGAACCCCTAGCTGGTGCAGA CCTGGGGACAAGCCCCTATGGTAGAAACCCCTAGCTGGTGTAGACCTGGG GACTGCCCCTATGGTAGAAACCCCTAGCTGGTGCAGACCTGGGGACTGCC CCTATGGTAGAAACCCCTAGCTGGTGTAGACCTGGGGACTGCCCCTATGG TAGAAACCCCTAGCTGGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(686): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	302	0.0033	693	c.513 others(710): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DIMT1_chr5_62382254_62408905	62382981	T T	TTTTTTTT others(686): Show TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTGTTTTTT GTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTGTTTTTTTT TTATTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT TTTTTTTGTTTTGTTTTCTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT TTCTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTATTTTCGTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTGTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG TTTTTTTTCTATTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGTTTTTTTTTTTGTTATTTTTTTTTTTTTTTTTGTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	402	0.0025	693	c.60 others(704): Show c.6028_*6029insCAAAAAACAAAAAAAAAAAAAAAAATAACAAAAA AAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAT AGAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAACAAAAAATAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACGAAAATAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAGAAAACAA AACAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACAAAAAACAAAAAAAA AAAAAAATAAAAAAAAAACAAAAAAAAAAAAACAAAAAAAAAAAAAACAA AAAAAAAAACAAAAAACAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAA AAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding		4272		chr5	TogoVar
DLGAP2_chr8_732628_1713476	894845	G G	GCTGGCAG others(686): Show GCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGC GGCTGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGG GGTGGGGAAAGTGGAGCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGA GTGGTGGCTGGCAGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGG GTAGCGGCTGGCAGGGGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGG GGCGGGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGA GCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTG GCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTT GGCAGGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATG GGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGG TGACTGGCAGGGGTGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTA GCGGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTTGGCAGGGGC GGGGTGGGGAAAGTGGGGTGGCGGATGGCAGGGGTGGCATGGGAAGAGCA GAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	3	0.3333	693	c.19- others(710): Show c.19-13015_19-13014insTGGCAGGGGCGGGGTGGGGGGAGTGGAG TGGCGGCTGGCAGGGGCGGGGTGGGGAAAGTGGAGCGGTGGATGGCAGGG GTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGCGGGGTGGGGAGAGC GGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGGGGCGGGGTGGGGACAG CAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGGCTGG CAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGGG GAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGGGGTGG GGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTGGGGAAAGTGGGGTGGT GGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGGCGG GGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTGGGGTGGGGAGAGCGGA GTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGG AGTGGCGGTTGGCAGGGGCGGGGTGGGGAAAGTGGGGTGGCGGATGGCAG GGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAG AGCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACT GGCAGGGGTAGCGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1521634	A A	ATCTGGTT others(686): Show ATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGAT ATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCA GGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACT CAGGCAGCAGGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATT TGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGT TTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCA CACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCGTCTC TGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATG GGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCAGCT GATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGG GCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAA TACTCGGGGGCAGGTGATTTGGGGCGTCTCTGGTTTGCACACTTGTTTTA ATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACT TGTTTTAATTTGGAATACTCGGGCAGCAGGTGATATGGGGCGTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG02976.hp1 HG02258.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0005g0029 a0002c0001t0019g0031 a0002c0001t0002g0032 a0002c0001t0005g0029 a0002c0001t0019g0031	3	16	0.1875	693	c.172 others(712): Show c.172+20303_172+20304insGTGATATGGGGCGTCTCTGGTTTGCA CACTTGTTTTAATTTGGAATACTCAGGCAGCAGGTGATATGGGGCGTCTC TGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATG GGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGG TGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGG CGGCAGGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGA ATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTA ATTTGGAATACTCGGGGGCAGCTGATATGGGGCGTCTCTGGTTTGCACAC TTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTT TGCACACTTGTTTTAATTTGGAATACTCGGGGGCAGGTGATTTGGGGCGT CTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGAT ATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCAGC AGGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATAC TCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTT GGAATACTCGGGGGCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(686): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGA GGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGA GGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAG AGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGGGAGGAG GAGGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0044 a0044	a0044c0155 a0044c0155	a0044c0155t0002 a0044c0155t0002	a0044c0155t0002g0029 a0044c0155t0002g0029	1	214	0.0047	693	c.118 others(712): Show c.11806-559_11806-558insCCTCCTCCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTTCCTCCCTC CTCCTTCCTCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCT CCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(686): Show CCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTCCGCAT CCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCCGCATCCTCAG GGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACC TGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAC CCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCA CCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACC CTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCT GCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCT CAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAA CCTGCCCACCTTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCC ACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTC CACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	181	0.0055	693	c.14 others(704): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGC AGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAG GGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTCGG GGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAA GGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGC AGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCC CTGAGGATGCAGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGA TGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAG GAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTC AGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTG GGCAGGTTCCCTGAGGATGCGGAGGAGGGTCGGGGGGAAGGGTGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(686): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCACATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCC CACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCCACCCTCCTCTTCATCCTCAGGGAACCTGCCCACCTTCCACCCCA CCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCC TCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCT GCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATC CTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	52	0.0192	693	c.13 others(704): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTG AGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATG CGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGAAGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCT TGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGA TGTGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAG GAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGT CGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
GALR1_chr18_77244848_77282900	77252884	C C	CCACCATC others(686): Show CCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCATCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCATCACCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCATCACCACCATCACCACCACCACCACCATCACCACCACCATCACCAC CATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0211	1	350	0.0029	693	c.666 others(710): Show c.666+1675_666+1676insTCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCACCACCACCATCACCATCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCATCACCACCATCACCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATCACCACCATCACCACCACCACCACCATCA CCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRIN2A_chr16_9748408_10187428	10040018	C C	CATACACG others(686): Show CATACACGCTCGCAACTTCGCACGCTCACAGTGCACACACACCCACAAAC ACACCCAACACACACATCCACACCACGCAAATACACTGCACACACACGCA ACACAACCATACCACACACACAAATACACAACACACACATCTACACCATA CACACTCGCAACTTCACACTCACAGTGCACACGCGCACACCCACAAATGC ACCCAATACACACATCTACACCAAGCACACAAATAAACTACACACAGAAC ATACATCCACACAATACACAACACACACACAACTTCACAGTGCACACGCA CTCACCCACAAACATACCCAACACATACGTCCACACCACACACACAAATA CACCACACACATCCACACCACACACACAAATACACCACACACATCCACAC CACACACACAAATACACTACACACACATCCACACCACACACAAATACACA ACACACACATCCACACACCACACACACAAATACGCTACACACATCCACAC ACCACACAAATACACCACACCATCCACACACCACACACACAAATACACAC CATCCACACCACACACAAATACACAACACACACATCCACACCACACACAC AAATACACAACACACAACACACACATCCACACCACACACATACACTACAC ACATCCCCACCACACACACAAATACACTACACACATCCCCATCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0029 a0001c0001t0014g0029	1	166	0.0060	693	c.415 others(714): Show c.415-101468_415-101467insTGATGGGGATGTGTGTAGTGTATT TGTGTGTGTGGTGGGGATGTGTGTAGTGTATGTGTGTGGTGTGGATGTGT GTGTTGTGTGTTGTGTATTTGTGTGTGTGGTGTGGATGTGTGTGTTGTGT ATTTGTGTGTGGTGTGGATGGTGTGTATTTGTGTGTGTGGTGTGTGGATG GTGTGGTGTATTTGTGTGGTGTGTGGATGTGTGTAGCGTATTTGTGTGTG TGGTGTGTGGATGTGTGTGTTGTGTATTTGTGTGTGGTGTGGATGTGTGT GTAGTGTATTTGTGTGTGTGGTGTGGATGTGTGTGGTGTATTTGTGTGTG TGGTGTGGATGTGTGTGGTGTATTTGTGTGTGTGGTGTGGACGTATGTGT TGGGTATGTTTGTGGGTGAGTGCGTGTGCACTGTGAAGTTGTGTGTGTGT TGTGTATTGTGTGGATGTATGTTCTGTGTGTAGTTTATTTGTGTGCTTGG TGTAGATGTGTGTATTGGGTGCATTTGTGGGTGTGCGCGTGTGCACTGTG AGTGTGAAGTTGCGAGTGTGTATGGTGTAGATGTGTGTGTTGTGTATTTG TGTGTGTGGTATGGTTGTGTTGCGTGTGTGTGCAGTGTATTTGCGTGGTG TGGATGTGTGTGTTGGGTGTGTTTGTGGGTGTGTGTGCACTGTGAGCGTG CGAAGTTGCGAGCGTGTAT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	2/12			chr16	TogoVar
HPCAL1_chr2_10297904_10432604	10399442	T T	TCACCACC others(686): Show TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACTACCATCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCATCACCACCACCACCACCATCACCATCATCACCACCATCA CCACCACCATCACCATCACCACCACCGCCGCCACCACCACCATCACCATC ATCACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCAC CACCACCATCACCACCACCACCACCATCACCATCACCACCACCACCACCA TCATCACCGCCACCACCACCACCACCATCACCATCACCACCACCATCACC ATCATCACCGCCACCACCACCACCACCACCATCACCACCACAACCACCAC CACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACTACCATCATCACCACCACCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	248	0.0040	693	c.-25 others(710): Show c.-25+2527_-25+2528insCCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACTACCATCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCATCACCATCACCACCACCACCACCATCACC ATCATCACCACCATCACCACCACCATCACCATCACCACCACCGCCGCCAC CACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCA TCACCGCCGCCACCACCACCACCATCACCACCACCACCACCATCACCATC ACCACCACCACCACCATCATCACCGCCACCACCACCACCACCATCACCAT CACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCATCA CCACCACAACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACTACCATCATCACCACCACCACCACCACCA CCACCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
KBTBD11_chr8_1968677_2011936	1990811	C C	CCTTGGCG others(686): Show CCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGCCTTGGCGCCCTGTCCG GGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGA CTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGG GTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCC TTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGG TAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCT TGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGT AGGTGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGACTT GGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTA GGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTG GCGCCCTGTCCGGGTAGATGCTGCTGGGACTTGGCGCCCTGTCCGGGTAG ATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGG CGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGG TGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0311 a0001c0002t0062g0311	1	360	0.0028	693	c.-90 others(712): Show c.-908-9446_-908-9445insCGGGCCTTGGCGCCCTGTCCGGGTAG GTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGACTTGG CGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGG TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGC GCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGAT GCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCG CCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTG CTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGACTTGGCGC CCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGC TGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCC CTGTCCGGGTAGATGCTGCTGGGACTTGGCGCCCTGTCCGGGTAGATGCT GCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCC TGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTG CCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGACTTGGCGCCCT GTCCGGGTAGGTGCTGC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(686): Show GGAAGGGAGGGGAGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA19059.hp1 NA18974.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0048 a0001c0001t0006g0049	2	6	0.3333	693	c.-46 others(704): Show c.-4676_-4675insTCCCTCCCTCCTCCCCTCTTCCTTTCTCCCTCCT CCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCT CCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCT CCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCC TCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTC TCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTC CCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCT CCTTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCTCC CCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997284	G G	GGGGGCGG others(686): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	354	0.0028	693	c.-21 others(704): Show c.-2185_-2184insGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		386		chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(686): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	188	0.0053	693	c.507 others(710): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGG ATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(686): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04184.hp1 HG04115.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0002 a0001c0018 a0002c0002	a0001c0018t0001 a0002c0002t0002 a0001c0018t0001 a0002c0002t0002	a0001c0018t0001g0200 a0002c0002t0002g0208 a0001c0018t0001g0200 a0002c0002t0002g0208	2	189	0.0106	693	c.507 others(710): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGG ATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(686): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAG GAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGG AGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGG GAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAA GAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGA AGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAG GGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAA GGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGGA AGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCA GAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0015 a0005c0009t0001g0015	1	8	0.1250	693	c.507 others(712): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAAAGAAGG AAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGA AAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAA AGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGG AAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAG GAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAG AAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGAA GGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGG AGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAG AAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(686): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACCTAACAC ACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACAG CTTCTTCAAACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACCTAACACACACACCTTCAAACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0004 a0018c0011t0004	a0018c0011t0004g0026 a0018c0011t0004g0026	1	10	0.1000	693	c.212 others(712): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACAGCTTCTTCAAACACACACACACCTCCAAACACACACA CACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCT AACACACACCTCCTTCAAACACACACCTCCACACACACACACCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACCTAACACACACACC TTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(686): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATAC CCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0084 a0002c0003t0002g0084	1	6	0.1667	693	c.368 others(710): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTA TGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MCCC1_chr3_183010218_183104496	183017819	T T	TACTGGTC others(686): Show TACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGACCAAATGCACTAGTCAAATCAGAGGCCTACAGGTCAAATGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02896.hp2 others(3): Show HG02258.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	6	32	0.1875	693	c.197 others(710): Show c.1978-483_1978-482insGCATTTGACCTGTAGGCCTCTGATTTGA CTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTG TAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTA CATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCC TCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(686): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01358.hp2 HG01069.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0277 a0001c0001t0001g0280	2	9	0.2222	693	c.293 others(712): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATAAATAT ATAAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTG GTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATAT ATATATTTATATATTTATATAAATATAAATATATAAATATATATAATTAT ATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTA GGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(686): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp2 HG01928.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0294 a0001c0001t0001g0131 a0001c0001t0001g0294	2	9	0.2222	693	c.293 others(712): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATAAATAT ATAAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTG GTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATAT ATATATTTATATATTTATATAAATATAAATATATAAATATATATAATTAT ATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTA GGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(686): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTT GGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATAT ATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0043 a0001c0004t0001g0144 a0001c0001t0001g0043 a0001c0004t0001g0144	2	9	0.2222	693	c.293 others(712): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATAAATAT ATAAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTG GTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATAT ATATATTTATATATTTATATAAATATAAATATATAAATATATATAATTAT ATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTA GGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(686): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATAT AAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATAT ATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGT ATATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0032 a0004c0007t0004g0032	1	156	0.0064	693	c.358 others(710): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAAATATATATATTTCAATATAAGTATGTATA AAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATA TAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATA TAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(686): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATA AATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAAATAT ATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGT ATATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0008 a0005c0013t0008	a0005c0013t0008g0120 a0005c0013t0008g0120	1	156	0.0064	693	c.358 others(710): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATA TAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NXN_chr17_794310_984776	841381	T T	TGCATCTC others(686): Show TGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACA CCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACC ACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACAGCGCATCT CACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAG CAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCG CATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACGCCG GCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACG GCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACG CCGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACCCGCGAGCAG GTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCACCCTGAC CACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	188	0.0053	693	c.361 others(712): Show c.361-15304_361-15303insTCCATGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATG CTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAG GGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCTGCC CGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGT CAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCT GCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAG GACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGC CCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATG CGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCG GGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGC TCGCCGGCGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(686): Show TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAG CATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCC ACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACAGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA CGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCC CCGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGT CCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	214	0.0047	693	c.361 others(712): Show c.361-15565_361-15564insGGGGGGACCTGCCCGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCAT GAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGG GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAG ATGCTCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(686): Show GCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTCTCC CCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCTG CCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCCCTCCCCCCTGCCTC CTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0022 a0001c0002t0008g0022	1	162	0.0062	693	c.360 others(712): Show c.360+30209_360+30210insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGG AGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGGGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGCGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG GAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSBPL5_chr11_3082107_3170310	3097054	G G	GAGAGGAA others(686): Show GAGAGGAAAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAA GATGGGAGGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAA AGGGGGGAAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGG AGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAG ATGGGAGGAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAG GGGGAAGACGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGG AGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAAGACG GGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAG AGGGGGAAGATGGGAGGAGAAGAGGAAAGAGGGGGAAGATGGAAGGAGGA GAAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGGAGAGGAAAGAGGGGGA AGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAA GAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAG AGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGGGGGAA GACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0315 a0001c0002t0005g0315	1	324	0.0031	693	c.162 others(712): Show c.1622-2721_1622-2720insTCTCCTCCCATCTTCCCCCTCTTTCC TGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCCTCCCGTCTT CCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCCTCTCCTCCC CCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTCCCCCTCTTT CCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCATCT TCCCCCTCTTTCCTCTTCTCCTCCTTCCATCTTCCCCCTCTTTCCTCTTC TCCTCCCATCTTCCCCCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCT TTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGT CTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCT CCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCT TTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGT CTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCACTCCT CCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCC TCTTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATC TTCCCCCTCTTTCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(686): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCT TCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTC CCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCC CTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCT TCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCC CTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTT CCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCC CTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTC CCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCC CTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	82	0.0122	693	c.845 others(710): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCC CCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTT CCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTC CCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCC CCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTT CCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCT TCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTC CCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCT TCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTT CCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCT TCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(686): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACAAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGC CACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCC ACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGG CTGGTCTCCACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATC GCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACAAGGCCCCCCAG CTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGC AAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCC CCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02683.hp2 HG01993.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	2	141	0.0142	693	c.329 others(710): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTTGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTG GGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGAT GAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCT TGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGA GCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCG CGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCA GCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAD21L1_chr20_1221044_1260876	1258679	A A	ACACATAA others(686): Show ACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTC TTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTT GAGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGC TCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATAC AAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCC TCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGT TTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAA GCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAAT ACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTC CCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTG ATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCC TTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01943.hp1 HG02602.hp1 others(3): Show HG00741.hp1 HG01943.hp1 HG02602.hp1 HG02735.hp2 HG03834.hp2 HG04228.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0015 a0002c0002 a0009c0015	a0002c0002t0004 a0009c0015t0004 a0002c0002t0004 a0009c0015t0004	a0002c0002t0004g0098 a0002c0002t0004g0158 a0002c0002t0004g0159 others(3): Show a0002c0002t0004g0098 a0002c0002t0004g0158 a0002c0002t0004g0159 a0002c0002t0004g0160 a0002c0002t0004g0161 a0009c0015t0004g0162	6	86	0.0698	693	c.42 others(704): Show c.4222_*4223insCACATAAAGCTCTGTTTCCTTCTAGGTAACTGAT TTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATACAAACACATAAA GCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAAT ACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTC CCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTG ATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCC TTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATA AAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTA ATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCT TCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTT CCTTCTTGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACA TAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTC TAATATAAT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2804		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1259529	A A	AGATCTTC others(686): Show AGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTT GGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCT CTGTTTCCTTCTTGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATA AACACATAAAGCTCTGTTTCCTTCTTGGTAACTGATTTGGGATCTTCCCT CTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATT TGGGGTCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTC TTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAG CTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATA TAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGATTTGAGATCTTCC CTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGA TTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATACAAACACATAA AGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAA TACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01516.hp2 HG02738.hp1 others(3): Show HG00738.hp2 HG01516.hp2 HG02738.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0142 a0002c0002t0003g0062 a0002c0002t0003g0063 others(3): Show a0001c0001t0001g0142 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066	6	358	0.0168	693	c.50 others(704): Show c.5072_*5073insGATCTTCCCTCTTTTCTAATATAAACACATAAAG CTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATA TAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGATTTGAGATCTTCC CTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGA TTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCT TCTAGGTAACTGATTTGGGGTCTTCCCTCTTTTCTAATATAAACACATAA AGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAA TATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTT CCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACT GATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTC CTTCTTGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACAT AAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCT AATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATC TTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGG	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3654		chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(686): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCTCCC CTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCC CCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	117	0.0085	693	c.77- others(710): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCACCCC TTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTT CCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431760	G G	GAGGGTGG others(686): Show GAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGA GGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	370	0.0027	693	c.101 others(712): Show c.1014-1199_1014-1198insTAGGGTGGTTAGGGTGGTTAGGGTGG ATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGTTAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(686): Show TATATATATTGTATATCTAATATATATTATATATATTATATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATAGTATATAT TGTATATATAATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	46	0.0217	693	c.176 others(710): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATTATATATACAATATATACTATATATATTATATATACAATATATA ATATATACAATATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATTATATATACAATATATAATATATACAATATATATTAT ATATACAATATATAATATATACAATATATATATTATATATACAATATATA ATATATACAATATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATTATATATACAATATATAATATATACAATATATATATT ATATATACAATATATAATATATACAATATATAATATATACTATATATATT ATATACAATATATAATATATACTATATATATTATATACAATATATAATAT ATACTATATATATTATATATACAATATATAATATATATAATATATATTAG ATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(686): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGT GGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCC CAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGAGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	362	0.0028	693	c.64 others(704): Show c.6452_*6453insGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAG GCAACTCCACCCCCGCTGGGCTCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCC CCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCC CCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
TCF25_chr16_89868592_89916379	89908688	A A	ACCTCCCT others(686): Show ACCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCG CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGC TCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCT CCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACC TCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCT CCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTC CCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCC CACCTCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(74): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02970.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0113 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0270	77	289	0.2664	693	c.179 others(712): Show c.1799+1372_1799+1373insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCCAGCT CCCAGCTCCCGCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908688	A A	ACCTCCCT others(686): Show ACCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCG CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGC TCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCT CCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACC TCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCTTCCT CCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTC CCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCC CACCTCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	213	0.0047	693	c.179 others(712): Show c.1799+1372_1799+1373insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCTTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCCAGCT CCCAGCTCCCGCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908688	A A	ACCTCCCT others(686): Show ACCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCG CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACTTCCAGCTCCCAGCTCCCACCTAGCAGCT CCCGGCTCCTGGCTCCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCAGTTCCTACCCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCT CCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACC TCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCT CCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTC CCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCC CACCTCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	213	0.0047	693	c.179 others(712): Show c.1799+1372_1799+1373insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACTTCCAGCTCCCA GCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCAGTTCCTACCCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCCAGCT CCCAGCTCCCGCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(686): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATAATATA TTATATATAATATGCATATTATATGTATTATATATTATATATTATATATA TAATATACATATTATATGTATTATATATTATATATTATATATATAATATA CATATTATATGTATTATATATTATATATAATATACATATTATATATTATA TATTATATACATATTATATATTATATATTATATACATATTATATATTATA TACATATTATATATTATATATTATATACATATTATACATTATATATATCT AAAATATATAATACACATTATATATTATATAATACACATTATATATAATA TATAATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATATTATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATATAATACACATTA TATATTATATAATACACATTATATATTATATATAATACACATTATATATA TAATACACATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01978.hp2 HG01934.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0104 a0001c0001t0001g0013 a0001c0001t0001g0104	2	83	0.0241	693	c.62 others(704): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTATATTA TATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(686): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0209 a0005c0004t0003g0209	1	188	0.0053	693	c.227 others(712): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(686): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	416	0.0024	693	c.227 others(712): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar

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