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
SLC6A3_chr5_1387794_1450440	1422412	G G	GGTGCTGC others(477): Show GGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTAC CCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAG TGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGC TGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCC ACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTG CTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTG CTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCG CTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCACTGCCCACAGTG CTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0123 a0001c0001t0002g0124	2	337	0.0059	484	c.654 others(499): Show c.654-399_654-398insTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGTGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGC GGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCACCCA GCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCAC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SNTG2_chr2_945849_1372613	1221941	G G	GTCTCTCT others(477): Show GTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTT GTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCT GTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCT GCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTGT GTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGT CTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTCTCTGTCTCTCTCT GTCTCTGCCTATCTTTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCT CTGTCTCTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCT CTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0115 a0011c0020t0001g0115	1	129	0.0078	484	c.719 others(503): Show c.719+12714_719+12715insCTCTCTGTCTCTGTCTCTCTCTGTCT CTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCT CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCT CTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCT CTGTCTGTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTATCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTTTGTCTCTCTCTGTCT CTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCTCTCT CTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTT CTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(477): Show TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATAAACATATATTATAGTTTATATAA TATATACATATATTATAGTTTATATAATATATACATATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	241	0.0041	484	c.12+ others(499): Show c.12+4102_12+4103insGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATAAACATATA TTATAGTTTATATAATATATACATATATTATAGTTTATATAATATATACA TATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(477): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	71	0.0141	484	c.262 others(503): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTCTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(477): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0009	1	71	0.0141	484	c.262 others(503): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(477): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	2	0.5000	484	c.262 others(503): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTC CTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGGCTG others(477): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG GCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGC TGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0017 a0003c0004t0001g0017	1	219	0.0046	484	c.395 others(501): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGT CATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCA TGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(477): Show TCCCTCCACCCCACCCATCCCCCATCCTCCTCCACCCCACCCATCCTCCC CTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCC CTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCT CCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCT CCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCAC CCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	61	0.0164	484	c.142 others(505): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCT CCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCC TCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCA CCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCACCCCCC CTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCA CCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCC ATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCAT CCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89884962	C C	CCCTCTCC others(477): Show CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCGTCTGCCTGAC GCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTG ACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	271	0.0037	484	c.429 others(499): Show c.429+308_429+309insTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCC CTCTCCGTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTC TGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGC CCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCGTCTGCCTGACG CCCTCTCCGTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCCTCTCCCTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACATCA others(477): Show CCACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGA TCACCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTC ACCACACATCAGACCCCTGTGACCAACCACCATCTAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	240	0.0042	484	c.228 others(503): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCACAGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGG TCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGT GGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGT CTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TP53AIP1_chr11_128930370_128947871	128930588	C C	CCAGGGTT others(477): Show CCAGGGTTAGGGAGGCCTAGGGTTAGGGAGGCTGGGGTTAGGGAGCCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCTGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAG GGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	447	0.0022	484	c.50 others(495): Show c.5002_*5003insCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGGCTCCCTAACCCCAGCCTCCCTAACCCTAGGCCTCCCTAACCCTG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4781		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(477): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCC TTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	8	0.1250	484	c.657 others(499): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCC TCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTT CTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC TCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(477): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCT TCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0125	1	8	0.1250	484	c.657 others(499): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC TCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(477): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCATCATAATT ACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCAC CACCACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACT ACCACTACCACCATCACAATCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCATCATCACCACCACCACCAACACTACTGCCACCACCA CTATTACCATCACCACCACTACTACCACCACCACTACCATAACCACCATC ATCACCATCACCATCATTACTGCTATTATGACCACCATCACTACCACCAT TATCACCACCACCACTAAACTACCACCACTACCTCACTGCCATCATCACC ATCACCATTACTAACATCACCATTACTAACATCACCATTATAATACTACC ACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 NA19043.hp2 HG01884.hp2 HG02109.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	3	52	0.0577	484	c.24 others(495): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTAGTGG TAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGT GGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGG TAATTATGATGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870213	C C	CACACACA others(477): Show CACACACACACCACACACCCTACACACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACCCCAC ACAAACCACACACCCCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCCCACACACCACACAAACCACACACCCCACACACCACACACACCAC ACACCCCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACCCTACACAAACCACACACACCACACA CACACATCACATACCACACACCCCACACACACCACACAAACCACACACAC CACACCCCACACACACCACACACACACATCACATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	281	0.0036	484	c.35 others(503): Show c.35+21480_*35+21481insACACACACACCACACACCCTACACAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACCCCACACAAACCACACACCCCACACACCCCCC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCCCACACACCACACAAACCACAC ACCCCACACACCACACACACCACACACCCCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACACCCCACACACACCACACAAACCACACACCCT ACACAAACCACACACACCACACACACACATCACATACCACACACCCCACA CACACCACACAAACCACACACACCACACCCCACACACACCACACACACAC ATCACATA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870245	A A	ACACCCCA others(477): Show ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	313	0.0032	484	c.35 others(503): Show c.35+21515_*35+21516insCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACCACACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(477): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	301	0.0033	484	c.53+ others(499): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(477): Show TCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCT CTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTC CCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0188 a0004c0004t0004g0188	1	228	0.0044	484	c.53- others(497): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253209	C C	CCCCCTCC others(477): Show CCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCT CTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0236 a0001c0001t0013g0236	1	238	0.0042	484	c.53- others(497): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCC CCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCT CT	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401864	C C	CCTCTCCA others(477): Show CCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCCTCCACCACCAAC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACA GCCCCGCGCCGCACCCCTCCACACCAACCACACCCCCGCGCTCCATCTCT CCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCAC CAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCCGCG CTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAA CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGC ACCTCTCCACCACCAACCACACCCCCGCGCCGCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	324	0.0031	484	c.181 others(505): Show c.1811-21562_1811-21561insATGCGGCGCGGGGGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTG GAGAGATGGAGCGCGGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGG GGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGGTGTGGTTGGTGGTGGAGGGGGTGCGGCGCGGGGGTGTGGTTGG TGGTGGAGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABHD3_chr18_21645901_21709774	21679541	T T	TTTTTTGA others(478): Show TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCA CGATCTGGGCTCACTGCAACCTTTGCCTCCTGGATTCAAATGATTTTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCACCATGCCCG GCTATTTTGTATTTTTAGTAGAGACAGAATTTCGCCAAGTTGGCCAGACT GGTCTCAAACTCCTGACCTCATGATCCACGCACCTCAGCCTCCCAAAGTG CTGGAATTACAGGCTTGAGCCACCGCGCCTGGCCTATTTTTATTTTTTAT TATTTTTTAATTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGT CTTGAACTCCTGGGCTCAAGTTATGTGCCTGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGCATGAGCCACTGTGCCTGGCCCTAAAAAGCTTTATCTT ACAAGATATTTCAAGTTTATTATTTCTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0103 a0001c0005t0001g0103	1	302	0.0033	485	c.555 others(502): Show c.555+3894_555+4378dupCAAACAAAAAGAAATAATAAACTTGAAA TATCTTGTAAGATAAAGCTTTTTAGGGCCAGGCACAGTGGCTCATGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCAGGCACATAACTTGAGCCCAGG AGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTATTAAATT AAAAAATAATAAAAAATAAAAATAGGCCAGGCGCGGTGGCTCAAGCCTGT AATTCCAGCACTTTGGGAGGCTGAGGTGCGTGGATCATGAGGTCAGGAGT TTGAGACCAGTCTGGCCAACTTGGCGAAATTCTGTCTCTACTAAAAATAC AAAATAGCCGGGCATGGTGGCACATGCCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAAAATCATTTGAATCCAGGAGGCAAAGGTTGCAGTGAGC CCAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAA	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	4/8			chr18	TogoVar
ADAMTS16_chr5_5135330_5325304	5305033	C C	CCCACACC others(478): Show CCCACACCACACACACATCCCACACCAAACACACACACACATCCCACACC ACACACACACATCCCACACCACACACACACATCCACACCACACACACACA CATCCCACACCACACACACACAATCCCACACCACACACACAATCCCACAC CACACACACACATCCCACACCACACACACACATCCCACACCACACACACA CACATCCCACACCACACACACACACACCCCACACCACACACACACATCCA CACCACACACACACACATCCCACACCACACACAAATCCCACACCACACAC ACAATCCCACACCACACACACACACATCCCACACCACACACAACCCACGC CACACACACACATCCCACACCCATCCCACGCCACACACATCCACACCACA CACACATCCCACACCACACACACACACACACACATCCCATACCACACACA CACACCCCACACCACACACATCCCACACCACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0013 a0003c0017t0013	a0003c0017t0013g0238 a0003c0017t0013g0238	1	216	0.0046	485	c.318 others(504): Show c.3186+1268_3186+1269insCACACCACACACACATCCCACACCAA ACACACACACACATCCCACACCACACACACACATCCCACACCACACACAC ACATCCACACCACACACACACACATCCCACACCACACACACACAATCCCA CACCACACACACAATCCCACACCACACACACACATCCCACACCACACACA CACATCCCACACCACACACACACACATCCCACACCACACACACACACACC CCACACCACACACACACATCCACACCACACACACACACATCCCACACCAC ACACAAATCCCACACCACACACACAATCCCACACCACACACACACACATC CCACACCACACACAACCCACGCCACACACACACATCCCACACCCATCCCA CGCCACACACATCCACACCACACACACATCCCACACCACACACACACACA CACACATCCCATACCACACACACACACCCCACACCACACACATCCCACAC CACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(478): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTGTATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTA TACAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTAT ATATATTCTATATACAGAATATATATATAGTATATATATTCTGTATACAG AATATATATACTATATATATATTCTGTATATAGAATATATATAGTATATA TATTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0202 a0014c0020t0002g0202	1	57	0.0175	485	c.409 others(504): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATATAG TATATATATTCTGTATACAGAATATATATACTATATATATATTCTGTATA TAGAATATATATACTATATATATTCTATATACAGAATATATATAGTATAT ATATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATA TATATACTATATATATTCTGTATACAGAATATATATACTATATATATTCT GTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAC TATATATATTCTGTATACAGAATATATATACTATATATATTCTGTATATA GAATATATATACTATATATATTCTGTATATAGAATATATATACTATATAT ATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(478): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGAGGAGG AGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGG GGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	183	0.0055	485	c.125 others(506): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTC CTCCCCCCCCCTCCTCCTCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTC CTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTC TGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTC CTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTC CCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(478): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGA GGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGG GGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	183	0.0055	485	c.125 others(506): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCTCC TCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTC CTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTC TGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTC CTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTC CCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(478): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGGGGAG GGGGGGGAGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0010 a0001c0001t0025g0010	1	183	0.0055	485	c.125 others(506): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTC CTCCTCCCCCCCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCTCC TCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTC CTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTC TGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTC CTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTC CCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKRD27_chr19_32592006_32680180	32596479	A A	AAAAAAAA others(478): Show AAAAAAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCC AGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGA GGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGA GCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTAC CCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATAC CTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCA CAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGG GCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAA ACCCTGTCTCTACTAAAAATACAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(63): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00639.hp2 HG00735.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0002c0007 a0002c0011 a0003c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0003t0002 a0001c0004t0002 a0001c0004t0006 a0001c0004t0017 a0001c0006t0002 a0002c0005t0002 a0002c0007t0002 a0002c0011t0002 a0003c0002t0002	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0042 others(63): Show a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0334 a0001c0001t0004g0115 a0001c0001t0006g0101 a0001c0001t0010g0041 a0001c0001t0011g0087 a0001c0003t0002g0148 a0001c0004t0002g0211 a0001c0004t0002g0212 a0001c0004t0002g0216 a0001c0004t0006g0206 a0001c0004t0006g0215 a0001c0004t0006g0305 a0001c0004t0017g0347 a0001c0006t0002g0103 a0002c0005t0002g0237 a0002c0007t0002g0172 a0002c0007t0002g0186 a0002c0011t0002g0053 a0003c0002t0002g0225 a0003c0002t0002g0268	66	321	0.2056	485	c.16 others(496): Show c.1665_*1666insGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGG GTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGC TGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCAC AGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTG GGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAG CCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTTTTTT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		526		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596479	A A	AAAACAAA others(478): Show AAAACAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCC AGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGA GGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGA GCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTAC CCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATAC CTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCA CAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGG GCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAA ACCCTGTCTCTACTAAAAATACAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02056.hp2 NA18969.hp2 others(2): Show HG00280.hp1 HG02056.hp2 NA18969.hp2 NA18991.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0050 others(2): Show a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0098	5	260	0.0192	485	c.16 others(496): Show c.1665_*1666insGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGG GTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGC TGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCAC AGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTG GGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAG CCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTTTGTT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		526		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596479	A A	AAACAAAA others(478): Show AAACAAAAAAAAAAAACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCC AGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGA GGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGA GCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTAC CCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATAC CTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCA CAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGG GCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAA ACCCTGTCTCTACTAAAAATACAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18612.hp2 NA18940.hp1 others(3): Show HG00558.hp1 NA18612.hp2 NA18940.hp1 NA19007.hp2 NA19074.hp2 NA19085.hp2	a0002 a0002	a0002c0005 a0002c0011 a0002c0005 a0002c0011	a0002c0005t0004 a0002c0011t0004 a0002c0005t0004 a0002c0011t0004	a0002c0005t0004g0310 a0002c0005t0004g0311 a0002c0005t0004g0314 others(3): Show a0002c0005t0004g0310 a0002c0005t0004g0311 a0002c0005t0004g0314 a0002c0005t0004g0315 a0002c0005t0004g0317 a0002c0011t0004g0063	6	261	0.0230	485	c.16 others(496): Show c.1665_*1666insGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGG GTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGC TGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCAC AGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTG GGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAG CCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTTTTTTTTTTTTGT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		526		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596479	A A	AAACAAAA others(478): Show AAACAAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCC AGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGA GGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGA GCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTAC CCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATAC CTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCA CAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGG GCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAA ACCCTGTCTCTACTAAAAATACAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02300.hp1 HG02965.hp2 others(2): Show HG02109.hp2 HG02300.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0003t0004 a0002c0005t0004 a0001c0001t0002 a0001c0003t0004 a0002c0005t0004	a0001c0001t0002g0094 a0001c0003t0004g0326 a0002c0005t0004g0003 others(2): Show a0001c0001t0002g0094 a0001c0003t0004g0326 a0002c0005t0004g0003 a0002c0005t0004g0004 a0002c0005t0004g0116	5	260	0.0192	485	c.16 others(496): Show c.1665_*1666insGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGG GTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGC TGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCAC AGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTG GGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAG CCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTTTTGT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		526		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596479	A A	AACAAAAA others(478): Show AACAAAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCC AGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGA GGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGA GCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTAC CCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATAC CTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCA CAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGG GCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAA ACCCTGTCTCTACTAAAAATACAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01258.hp2 HG03486.hp1 HG01192.hp2 HG01258.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0025 a0001c0001t0002g0068 a0002c0005t0002g0309 a0001c0001t0002g0025 a0001c0001t0002g0068 a0002c0005t0002g0309	3	258	0.0116	485	c.16 others(496): Show c.1665_*1666insGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGG GTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGC TGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCAC AGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTG GGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAG CCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTTTTTG T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		526		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596481	A A	AAAAAAAA others(478): Show AAAAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCCAG CTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGAGG CTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGC GAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTACCC CAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATACCT GTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCACA GCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGGGC ATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAAAC CCTGTCTCTACTAAAAATACAAAAACAAAAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA19077.hp1 NA18961.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0065 a0001c0001t0002g0093	2	346	0.0058	485	c.16 others(496): Show c.1663_*1664insGTGTTTTTTTGTTTTTGTATTTTTAGTAGAGACA GGGTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACC ATGCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCT GCTGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGC ACAGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGT TGGGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGC AGCCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGT AGCTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTTTT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		524		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596483	A A	AAAAAAAA others(478): Show AAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCCAGCT ACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGAGGCT GCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTACCCCA ACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATACCTGT GCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACCACAGC AGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTGGGCAT GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAAACCC TGTCTCTACTAAAAATACAAAAACAAAAAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	322	0.0031	485	c.16 others(496): Show c.1661_*1662insGTTTGTTTTTTTGTTTTTGTATTTTTAGTAGAGA CAGGGTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCA CCATGCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAG CTGCTGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCA GCACAGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATAT GTTGGGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACT GCAGCCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGA GTAGCTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTT T	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		522		chr19	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGGTGA others(478): Show GGTGGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTG TGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTG GTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGAT GGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGAT GGAAATGATGATGATGTTAATTGTGGGGTTGATGATGGTAATGATAATGA TTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTG GTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGT GATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGA TGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATC ATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	42	0.0238	485	c.33 others(496): Show c.3321_*3322insGTGGTGATGATGGTGGTGGTGGTGATGGAAATGA TGATGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATG GTGGTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGT GATGATGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGT GGTGGTGGTGGTGATGGAAATGATGATGATGTTAATTGTGGGGTTGATGA TGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATA ATGGTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGT GGTGGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGG TGGTGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTG CTGGTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGT A	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGGTGA others(478): Show GGTGGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTG TGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTG GTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGAT GGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGAT GGAAATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGA TTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTG GTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGT GATAGTGGCGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGA TGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATC ATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	42	0.0238	485	c.33 others(496): Show c.3321_*3322insGTGGTGATGATGGTGGTGGTGGTGATGGAAATGA TGATGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATG GTGGTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGT GATGATGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGT GGTGGTGGTGGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGA TGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATA ATGGTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGT GGTGGTGGTGCTGGTGATAGTGGCGGTGGTGGTGCTGGTGATGATAATGG TGGTGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTG CTGGTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGT A	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGGTGA others(478): Show GGTGGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTG TGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTG GTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGAT GGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGAT GGAAATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGA TTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTG GTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGT GATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGA TGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATC ATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(108): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18995.hp2 NA18999.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0009 a0010 a0014 a0019	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0020 a0001c0029 a0002c0003 a0003c0005 a0003c0036 a0007c0009 a0009c0019 a0010c0012 a0014c0022 a0019c0034	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(21): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0004t0007 a0001c0008t0006 a0001c0008t0007 a0001c0020t0003 a0001c0029t0003 a0002c0003t0003 a0002c0003t0006 a0003c0005t0001 a0003c0005t0002 a0003c0036t0002 a0007c0009t0006 a0009c0019t0007 a0010c0012t0007 a0010c0012t0009 a0014c0022t0007 a0019c0034t0007	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(97): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0122 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0209 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0241 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0268 a0001c0001t0003g0274 a0001c0001t0003g0304 a0001c0001t0003g0310 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0029 a0001c0001t0006g0034 a0001c0001t0006g0058 a0001c0001t0006g0061 a0001c0001t0006g0082 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0210 a0001c0001t0006g0285 a0001c0001t0006g0292 a0001c0001t0006g0295 a0001c0001t0006g0298 a0001c0001t0006g0301 a0001c0001t0009g0114 a0001c0001t0014g0258 a0001c0002t0003g0272 a0001c0002t0007g0013 a0001c0002t0007g0051 a0001c0002t0007g0066 a0001c0002t0007g0080 a0001c0002t0009g0134 a0001c0002t0009g0148 a0001c0002t0010g0081 a0001c0004t0007g0112 a0001c0004t0007g0283 a0001c0008t0006g0282 a0001c0008t0007g0277 a0001c0020t0003g0202 a0001c0020t0003g0273 a0001c0029t0003g0136 a0002c0003t0003g0167 a0002c0003t0006g0042 a0003c0005t0001g0137 a0003c0005t0001g0194 a0003c0005t0002g0010 a0003c0005t0002g0046 a0003c0005t0002g0075 a0003c0036t0002g0076 a0007c0009t0006g0067 a0007c0009t0006g0068 a0007c0009t0006g0069 a0009c0019t0007g0307 a0010c0012t0007g0059 a0010c0012t0007g0097 a0010c0012t0009g0236 a0014c0022t0007g0100 a0019c0034t0007g0099	111	152	0.7303	485	c.33 others(496): Show c.3321_*3322insGTGGTGATGATGGTGGTGGTGGTGATGGAAATGA TGATGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATG GTGGTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGT GATGATGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGT GGTGGTGGTGGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGA TGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATA ATGGTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGT GGTGGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGG TGGTGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTG CTGGTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGT A	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
CACNA1B_chr9_137872782_138129619	138126885	C C	CCCCGGCC others(478): Show CCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGC CGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCA GTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAG AGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACA CCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCA AGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0010 a0007c0021t0010	a0007c0021t0010g0004 a0007c0021t0010g0004	1	236	0.0042	485	c.48 others(496): Show c.4886_*4887insCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACA CCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAA GGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGC AGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCC CGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCC TGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAG CAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCAT GACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGG CGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCG CCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGT G	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2267		chr9	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(478): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGC GAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGGAAGGCTCTGAGGGGGA AGGACATGAGGGAGAAGGATCTGAAAGGCGAAGGATCTGAGGGGGAAGGA TCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGACA TGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	64	0.0156	485	c.-21 others(502): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCTCAGAGCCTTCCCCCCCTCAGAGCCTTCCCCGCTCA GATCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAG CCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCTCAGATCCT TCGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAGAGCCTCCC CTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCC TCAGAGCTTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCCCTCAG ATCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGC CTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(478): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACTCACATACA GACACAACCACACCACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	322	0.0031	485	c.193 others(502): Show c.1938+686_1938+687insTACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACATACACAGTCACATACAGACACAACCACACCA CACTCACACACACACATACACACTCACATACAGACACAACCACACCACAC TCACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(478): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCC CTCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCC CACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCC TTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCC CTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCT CCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCA CTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCT CTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCC CCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0043 a0001c0003t0009g0043	1	2	0.5000	485	c.75- others(502): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCACTTCCCCCT TCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCTTCCCCTTCC CACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCC TTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCT CTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTC TCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCC CTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCTCCCCACTCC CTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCC GCACTCCCTCCCTCTCCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCC CCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(478): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCT CCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02451.hp1 HG02486.hp1 others(5): Show HG01069.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0018 a0002c0001t0002 a0002c0001t0018	a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0006 others(1): Show a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0006 a0002c0001t0018g0002	8	15	0.5333	485	c.69 others(496): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320394	A A	AATATATG others(478): Show AATATATGTAATATATATTATATATGTAATATATAATATATGTAATATAT ATTATATATATTATATATGTAATATATAATATATGTAATATATATTATAT ATATTATATATGTAATATATATTATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATATTATATATGCAATATATATTATATATATTATATATGCAA TATATATTATATATTACATATGTAATATATATATTATATATTACATATGT AATATATATTACATATGTAATATATATTATATATGTAATATATATTACAT ATATTATATATGTAATATATAATATATATTATATATGTAATATATATTAT ATATGTAATATATAATATATATGTAATATATAATATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0004	1	222	0.0045	485	c.342 others(506): Show c.3423-21422_3423-21421insATTATATATGTAATATATAATATA TGTAATATATATTATATATATTATATATGTAATATATAATATATGTAATA TATATTATATATATTATATATGTAATATATATTATATATATTATATATAT TATATATGTAATATATATTATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATATTATATATGCAATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATATTATATA TTACATATGTAATATATATTACATATGTAATATATATTATATATGTAATA TATATTACATATATTATATATGTAATATATAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATGTAATATATAATATATAT TATATATGTAATATATATTATATATGTAATATATGTAATATATATTATAT ATGTAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(478): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	92	0.0109	485	c.80- others(500): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATA AAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(478): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01433.hp1 HG00741.hp1 HG01106.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	94	0.0319	485	c.80- others(500): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATA AAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(478): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00735.hp2 others(29): Show HG00099.hp2 HG00609.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02523.hp2 HG02698.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18962.hp1 NA18965.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0038 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237	32	123	0.2602	485	c.80- others(500): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATA AAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLPTM1L_chr5_1312752_1350099	1333412	C C	CACACCGG others(478): Show CACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTATACACACCGGCTGAGGATAAGGGGGGACTACT GTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGAT GAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAAGGGGGGA CTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACCG GATGAGGATAAGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGG GACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACAC ACCGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA GACACACGGGATGAGGATAAGGGGGGACTACTGTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	347	0.0029	485	c.891 others(500): Show c.891+876_891+877insATACAGTAGTCCCCCCTTATCCTCATCCCG TGTGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCTCA TCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCTTATC CTCATCCGGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCTT ATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGT GTATACAGTAGTCCCCCCTTATCCTCAGCCGGTGTGTATACAGTAGTCCC CCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCC GGTGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255864	G G	GAAGGGGG others(478): Show GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0001 a0004c0071t0001	a0004c0071t0001g0084 a0004c0071t0001g0084	1	310	0.0032	485	c.85- others(502): Show c.85-13131_85-13130insTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(478): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGT ATACATAATATTTATATATTATATGTATATTATGTATACATAATATATTA TATATTATATGTATATTATGTATACATAATATTTATATATTATATGTATA TTATGTATACATAATATATTATATATTATATGTATATTATGTATACATAA TATATTATATATTATATGTATATTATGTATACATAATATATTATATATTA TATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGTA TACATAATATATTATATATTATATGTATATTATGTATACATAATATTTAT ATATTATATGTATATTATGTATACATAATATATTATATATTATATGTATA TTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	85	0.0118	485	c.896 others(502): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAAATATTATGTATACATAA TATACATATAATATATAATATATTATGTATACATAATATACATATAATAT ATAATATATTATGTATACATAATATACATATAATATATAATATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAAATATTATGTATACATAAT ATACATATAATATATAATATATTATGTATACATAATATACATATAATATA TAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232020	A A	ACCACTAC others(478): Show ACCACTACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGCTG CCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGCTGCCACCACTACCCGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	324	0.0031	485	c.513 others(502): Show c.513-1153_513-1152insTACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCC CACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGC CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775865	C C	CCTACATG others(478): Show CCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCT ACATGTATTCTCCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19043.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0123 a0001c0001t0001g0124	2	416	0.0048	485	c.363 others(502): Show c.363+1194_363+1195insAATACATGTAGGAGAATACTGTAGGAGA ATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAG AATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAA TACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATA CATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAAT ACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAA TACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATA CATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAAT ACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATAC ATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATA CATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar

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