Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CTNNA3_chr10_65907523_67701195	66577000	T T	TCTTAACT others(346): Show TCTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CACCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0021 a0005c0010t0002g0021	1	46	0.0217	353	c.137 others(374): Show c.1374+44691_1374+44692insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAA AATACAAAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGTTAAG		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17						chr10	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(346): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	288	0.0035	353	c.-7- others(368): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCC		DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(346): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	288	0.0035	353	c.-7- others(368): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCC		DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(346): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGGG TCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	288	0.0035	353	c.-7- others(368): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCC		DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(346): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	416	0.0024	353	c.500 others(370): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCAGATCTTTCT		DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3						chr12	TogoVar
DCLK2_chr4_150073445_150262438	150251044	C C	CAATCTCC others(346): Show CAATCTCCCCACACCATCCCCCACACCCCCACTACCCCCACACCCCCCAG CATCCCCCAAGACCCACACCCCCACACATCCCCCACACCCCACTCTCCCA CACTCCCCCACATCTCCCCATCACCTCCCCACATCCCCCACACATCCCCC ACACCCCCACATCCCCCACACCCACATCAGCCCCACTAACCCCCACACAT CCCCACCCCCACACATCCCCTCACACCCCCCATATCCCCCACAACCCCCC AAATCCCACACACCCCCCAAATCCCCCATCACCCCCCAAATCCCCACACC CCCCACATCCCCCACACCCCCATCAACATCCACCTACACCCCACACTGCC CCCA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0070 a0002c0002t0004g0070	1	116	0.0086	353	c.207 others(372): Show c.2073+1360_2073+1361insAATCTCCCCACACCATCCCCCACACC CCCACTACCCCCACACCCCCCAGCATCCCCCAAGACCCACACCCCCACAC ATCCCCCACACCCCACTCTCCCACACTCCCCCACATCTCCCCATCACCTC CCCACATCCCCCACACATCCCCCACACCCCCACATCCCCCACACCCACAT CAGCCCCACTAACCCCCACACATCCCCACCCCCACACATCCCCTCACACC CCCCATATCCCCCACAACCCCCCAAATCCCACACACCCCCCAAATCCCCC ATCACCCCCCAAATCCCCACACCCCCCACATCCCCCACACCCCCATCAAC ATCCACCTACACCCCACACTGCCCCCA		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15						chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251150	A A	AACACCCC others(346): Show AACACCCCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCC CAAATCCCCCACACCCCCCACACCCCCACACACCCCCCACATCCCCCACA CCTCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCC AACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCC CCCCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCTCA CACCCCCCCACACCCCCCAACACCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCAC ACCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	116	0.0086	353	c.207 others(372): Show c.2073+1466_2073+1467insACACCCCCACACCCCCACACACCCCC ACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCC ACACACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCAC ACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACACCCCC CACACCACACATCCCTCACACCCCCCCACACCCCCCAACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCCACACCCCCCAACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCCCACACCC		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15						chr4	TogoVar
DECR2_chr16_396885_417482	397695	T T	TGGGGGGT others(346): Show TGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGA GTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	367	0.0027	353	c.-42 others(364): Show c.-4269_-4268insGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG TGGGGGGGTGAGGGAGTCG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4189		chr16	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(346): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA18944.hp1 NA18984.hp2 others(3): Show HG01255.hp1 NA18944.hp1 NA18984.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	6	367	0.0164	353	c.-42 others(364): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGT		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4181		chr16	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(346): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGG GGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02129.hp2 HG02074.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	367	0.0055	353	c.-42 others(364): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GGTGAGGGAGTCGGGGGGT		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4181		chr16	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCCACACA others(346): Show CCCACACACACCCCCCCCCACACACACCCCCACACACACACACACACACC CCCCCCACACACACACACACACCCCCCCACACACACACACACACACCCCC CCCCACACACACACACCCCCCCCCACACACACACCCCCCCCACACACACA CCCCCCCCACACACACACACCCCCCCCCACACACACACACCCCCCCCCAC ACACACACACCCCCCCACACACACACACCCCCCCCACACACACACCCCCC CCACACACACACACATCCCCCCACACACACACACACATCCCCCCCCACAC ACACACACATCCCCCCCCACACACACACACATCCCCCCCCACACACACAC ACAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0058 a0001c0006t0002g0058	1	88	0.0114	353	c.85+ others(370): Show c.85+80936_85+80937insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGTGGGGGGATGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGT GTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGG GGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGT GTGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTGTGG GGGGGTGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGTGTGGGGG TGTGTGTGGGGGGGGGTGTGTGTGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(346): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATACATGTATATATACA CATATATACATATATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATACACACA CACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	80	0.0125	353	c.-15 others(374): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATGTATGTA TATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTAT		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12						chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(346): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATATATGTATATATACACATATATACATATATGTATATATACA CATATATACATATATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATACACACA CACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	80	0.0125	353	c.-15 others(374): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATATATGTA TATATGTGTATATATACATATATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTAT		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12						chr18	TogoVar
DOCK2_chr5_169632275_170088382	169826954	T T	TAAAAGCA others(346): Show TAAAAGCAGGGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0001 a0001c0083t0001	a0001c0083t0001g0154 a0001c0083t0001g0154	1	184	0.0054	353	c.270 others(374): Show c.2704-13788_2704-13787insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGCAGGGGCTAG		DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	26/51					INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(346): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19067.hp2 NA18957.hp2 NA19067.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0092 a0004c0004t0001g0096 a0001c0001t0001g0092 a0004c0004t0001g0096	2	212	0.0094	353	c.162 others(366): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTATTGTTACCTTTTCT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP6_chr7_154047398_154899285	154344030	T T	TCTACTCT others(346): Show TCTACTCTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGACTACAG GCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0023 a0002c0022t0023	a0002c0022t0023g0027 a0002c0022t0023g0027	1	38	0.0263	353	c.244 others(374): Show c.244-102167_244-102166insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGG GACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTACTCTAAGTTCTTTT		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DSCAML1_chr11_117422772_117802216	117438484	T T	TAGAAAGG others(346): Show TAGAAAGGCAGGTCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCCGCCGGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0058 a0002c0010t0004g0058	1	194	0.0052	353	c.424 others(370): Show c.4243+400_4243+401insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCCGGCGGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGAGGACCTGCCTTTCT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	24/32						chr11	TogoVar
EFCAB12_chr3_129396321_129433636	129417807	T T	TAGAAATA others(346): Show TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp2 HG03942.hp2 HG02698.hp1 HG02735.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0163 a0001c0001t0001g0035 a0001c0001t0001g0163	3	386	0.0078	353	c.681 others(368): Show c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCAAAAGATGCTGTATTTCT		EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	3/8						chr3	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGGG others(346): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGC GCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGC CAGCTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCC AGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAG GTGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	322	0.0031	353	c.976 others(368): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCC		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11						chr1	TogoVar
ERP44_chr9_99974185_100104000	100100863	T T	TATAAATT others(346): Show TATAAATTATATATACACATATATAATATATATAATATATATACATATAA TATATATATTATATATACATATATATTATATATATAATATATATTATATA TATAATATATATGTATATATATTATATATACATATATAATATATATTATA TATACATATAATATATATTATATATACATATATAATATATATTATATATA CATATAATATATATTATATATGCATATATAATATATATATTATATATGTA TATATAATATATATATTATATATGCATATATAATATATATTATATATGCA TATATAATATATATTATATATGCATATATAATATATATTATATATGCATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	220	0.0046	353	c.-20 others(364): Show c.-2024_-2023insTATATATGCATATATAATATATATTATATATGCA TATATAATATATATTATATATGCATATATAATATATATTATATATGCATA TATAATATATATATTATATATACATATATAATATATATATTATATATGCA TATATAATATATATTATATGTATATATAATATATATTATATATGTATATA TAATATATATTATATGTATATATAATATATATTATATATGTATATATAAT ATATATACATATATATTATATATATAATATATATTATATATATAATATAT ATGTATATATAATATATATATTATATGTATATATATTATATATATTATAT ATGTGTATATATAATTTAT		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding					1864		chr9	TogoVar
FAM3D_chr3_58628946_58671774	58652559	T T	TCATCCAT others(346): Show TCATCCATCCATCCACCCTTCCCTCCCTCTACCCATCTACCCATCCACCC ATCCATCTACCCACTCATCTGTTCTCCACCAACCCATCCATCTACTTATC CCTCCATCTATCCATCCAGCCATTCACACATTCACCCACTCACTCATCCA TTCTCCACCCACTCATTCATTCGCCCATCTCTCCATTTGCCCATTCATCT GTCCATCTACTCATCCCTCCATCTACCCATCCAACCATCCATTTATCTAT CCACCCACCCACTCAGCCATTCTTCACTCATCCATCCATCTGTCCATCCA TCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCTCTCCATC TACC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	398	0.0025	353	c.121 others(370): Show c.121+1114_121+1115insGGTAGATGGAGAGATGGATGGATGGATG GATGGATGGATGGATGGATGGACAGATGGATGGACAGATGGATGGATGAG TGAAGAATGGCTGAGTGGGTGGGTGGATAGATAAATGGATGGTTGGATGG GTAGATGGAGGGATGAGTAGATGGACAGATGAATGGGCAAATGGAGAGAT GGGCGAATGAATGAGTGGGTGGAGAATGGATGAGTGAGTGGGTGAATGTG TGAATGGCTGGATGGATAGATGGAGGGATAAGTAGATGGATGGGTTGGTG GAGAACAGATGAGTGGGTAGATGGATGGGTGGATGGGTAGATGGGTAGAG GGAGGGAAGGGTGGATGGATGGATG		FAM3D	ENSG00000198643.7	transcript	ENST00000358781.7	protein_coding	3/9						chr3	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATCT others(346): Show TATGATCTATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATATCATATATCACATATATCATATAT CACATATCATATATATCATATATATCATATATCATATATATCATATATCA TATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATCATATATATCATATATATCATATATCATATATATCATATATATCATAT ATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02922.hp1 HG01069.hp1 HG01071.hp1 HG02922.hp1	a0003 a0008 a0003 a0008	a0003c0007 a0008c0042 a0003c0007 a0008c0042	a0003c0007t0006 a0008c0042t0012 a0003c0007t0006 a0008c0042t0012	a0003c0007t0006g0055 a0003c0007t0006g0056 a0008c0042t0012g0054 a0003c0007t0006g0055 a0003c0007t0006g0056 a0008c0042t0012g0054	3	236	0.0127	353	c.-22 others(364): Show c.-2234_-2233insTGATATATGATATATATGATATATATGATATATG ATATATATGATATATATGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATATGATATATGATATATATGATATATGATATA TATGATATATATGATATGTGATATATGATATATGTGATATATGATATATA TGATATATGTGATATATGTGATATATGATATATGTGATATATGTGATATA TGATATATGTGATATATGATAATGATATGATATATATGATATGATATATA TGATAGATCATATATGATCTCATATATATGATATATATGATATAATATAT GATCTATCATATAGATCAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1592		chr5	TogoVar
FBXL2_chr3_33272442_33393092	33379166	T T	TAATTTTT others(346): Show TAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCT GGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCTACCGCACCTGACCTGAATTAGCATCAA TTCTATACACTCTGTTTTAGGAAATAAGACAGTAAAACATTTTACAACTC TTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGGC GCGACCTCAGCTCACTGCAACCTCTGCCTCCTTGGTTCAAGCTATTCTCC TGCCTCATCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCC AGCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	340	0.0029	353	c.951 others(368): Show c.951+512_951+513insGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCTACCGCACCTGACCTGAATTAGCATCAATTCTATACACTCTGTTTT AGGAAATAAGACAGTAAAACATTTTACAACTCTTTTTTTGAGACAGAGTC TTGCTCTGTCACCCAGGCTGGACTGCAGTGGCGCGACCTCAGCTCACTGC AACCTCTGCCTCCTTGGTTCAAGCTATTCTCCTGCCTCATCCTCCCGAGT AGCTGGGATTACAGGCGTGCACCACCACGCCCAGCAAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCTGCCTGCCTC		FBXL2	ENSG00000153558.17	transcript	ENST00000484457.6	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
FRMPD3_chrX_107444652_107610251	107570243	T T	TGAAATGT others(346): Show TGAAATGTTTACCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03041.hp1 HG02109.hp1 HG02622.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0060 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0060	3	183	0.0164	353	c.129 others(372): Show c.1296+5191_1296+5192insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAATGTTTACCAG		FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
FSTL5_chr4_161378897_162169000	161595049	T T	TCTTGTTT others(346): Show TCTTGTTTATATAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGAAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	142	0.0070	353	c.895 others(370): Show c.895-7475_895-7474insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAA AAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAATTATATAAACAAG		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	7/15						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807139	T T	TTCCCTCC others(346): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	314	0.0032	353	c.29 others(364): Show c.2973_*2974insTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCTGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACCTCCGCAGGCCACTC		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2853		chr2	TogoVar
GDF2_chr10_47317454_47332588	47329613	T T	TGGTGTGT others(346): Show TGGTGTGTGCACACTGAGCGGGGTGAGTGATGTGGTGTGTGCACACTGAG CGGGGTGAGTGATGTGGTGTGTGCACACTGAGCGGGGTGAGTGATGTGGT GTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCACACTGAGGGGGGTGA GTGATGTAGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCACCCTG GGGTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGC ACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGTGGT GTGTGCACACTGAGGGGGGTGAGTGATGTGTGTGCACACTGGGATGAGTG ATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	424	0.0024	353	c.38 others(364): Show c.3829_*3830insGGTGTGTGCACACTGAGCGGGGTGAGTGATGTGG TGTGTGCACACTGAGCGGGGTGAGTGATGTGGTGTGTGCACACTGAGCGG GGTGAGTGATGTGGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCA CACTGAGGGGGGTGAGTGATGTAGTGTGTGCACACTGGGGTGAGTGATGC GGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGTGAG TGATGCGGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGG GGTGAGTGATGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGTGTGTGC ACACTGGGATGAGTGATGC		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					2026		chr10	TogoVar
GHR_chr5_42418439_42726878	42719833	T T	TGTTGTTT others(346): Show TGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTT CACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCC CGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACAGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0033 a0004c0004t0033	a0004c0004t0033g0006 a0004c0004t0033g0006	1	210	0.0048	353	c.41 others(362): Show c.419_*420insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGG GTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGC GCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGACAG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCGTTGTTTCTT		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	10/10				420	INFO_REALIGN_3_PRIME	chr5	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(346): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTC CTCCTGGCCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATC TTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTG CTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCC TCTG	frameshift_variant frameshift_variant	HIGH	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0010 a0006c0031t0010	a0006c0031t0010g0130 a0006c0031t0010g0130	1	396	0.0025	353	c.239 others(362): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGC GGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCA GGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGA GAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(346): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	188	0.0053	353	c.109 others(374): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPR157_chr1_9095305_9134102	9116228	A A	ATTATATA others(346): Show ATTATATATATAATATATATAATATAATTATATATATTATATATATAATA TAATTATATATATTATATATATTATATATAATATAATTATATTAATTATA TTATATATAATTATATATAATTATATTATATATATTATATATAATATAAT TATATATAATTATATTATATATAATATATATAATATAATTATATTATATA TATATTATATTATATATAATTATATATAATTATATTATATATTATATGTA ATATAAATATATATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATATAATATATATAATTATAATATATA TTAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0043 a0003c0006t0043	a0003c0006t0043g0322 a0003c0006t0043g0322	1	404	0.0025	353	c.384 others(370): Show c.384-4740_384-4739insATAATATATATTATAATTATATATATTA TATTATATATAATATATAATATAAATATATATAATTATATTACATATAAT ATATATAATATAATATATATTTATATTACATATAATATATAATATAATTA TATATAATTATATATAATATAATATATATATAATATAATTATATTATATA TATTATATATAATATAATTATATATAATTATATTATATATAATATATATA ATATAATTATATATAATTATATATAATATAATTAATATAATTATATTATA TATAATATATATAATATATATAATTATATTATATATATAATATATATAAT TATATTATATATATTATATATATAA		GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3						chr1	TogoVar
GRM7_chr3_6856115_7746533	7091701	T T	TAAATAAC others(346): Show TAAATAACTTAATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0011 a0001c0014t0002g0011	1	80	0.0125	353	c.520 others(372): Show c.520-54738_520-54737insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATAACTTAATT		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(346): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGGGGGCGGGAG GACTTGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACC CAGGGCGGGGGGAGGGGCGGGGCTGGGGGCGGGGGAGGACTTGGGGACAG AGGAGGGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCG GGGGAGGGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCG GGGGGGAGGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGGCGGGGAAT GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	288	0.0035	353	c.-39 others(362): Show c.-394_-393insGCCCATTCCCCGCCCCCGCCCCCACCCTCTCCTCTC TCCCCTCCCCCTCCCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCC CCAGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCC CCCGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCCGCCCCCAGCCCC GCCCCTCCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCC CTCCTCTCTCCCCAAGTCCTCCCGCCCCCCCCCCCCAGCCCCGCCCCTCC CCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCCCTCC CCCGCTCCTGCCCCTCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					315		chr13	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(346): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02486.hp2 HG02622.hp1	a0001 a0001	a0001c0018 a0001c0041 a0001c0018 a0001c0041	a0001c0018t0002 a0001c0041t0001 a0001c0018t0002 a0001c0041t0001	a0001c0018t0002g0053 a0001c0041t0001g0099 a0001c0018t0002g0053 a0001c0041t0001g0099	2	408	0.0049	353	c.633 others(370): Show c.633-1130_633-1129insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACT		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HMCN1_chr1_185729391_186195949	185837469	T T	TCAGATAT others(346): Show TCAGATATCATAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCTGG GTTCATGCCATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGA GCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCC GGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0003 a0026c0040t0003	a0026c0040t0003g0086 a0026c0040t0003g0086	1	92	0.0109	353	c.269 others(370): Show c.269-8540_269-8539insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTC CTGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACTAC AGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAC GCCCGGCCCAGATATCATAGGTTTT		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	1/106					INFO_REALIGN_3_PRIME	chr1	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCCTCTC others(346): Show TTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTC CCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	306	0.0033	353	c.26 others(364): Show c.2619_*2620insTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
IL10RA_chr11_117981394_118006483	118003568	T T	TAAGAATA others(346): Show TAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0044 a0007c0011t0002g0044	1	426	0.0024	353	c.39 others(364): Show c.3927_*3928insAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA		IL10RA	ENSG00000110324.12	transcript	ENST00000227752.8	protein_coding					2086		chr11	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATATA others(346): Show AATATATAATATATAATATTATATATAATATATAATATACATTATATTAT ATATGATATATATTTTATATATTATATTATATATGATATATATTTTATAT ATTATATTATATATGATATATATTTTATATATATATAAAATTTATATATA ATATTATATATAATATTATATATTTTATATATAATATTATATATAATATT ATATATTTTATATATAATATTATATATAATATTATATATTTTATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATTTTATATATAATATATATTATATAATATTATATATATTATACATTAC ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02074.hp2 HG02165.hp2 HG00621.hp2 HG02074.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0006t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0006t0001g0064	3	366	0.0082	353	c.-35 others(364): Show c.-3536_-3535insATATATAATATATAATATTATATATAATATATAA TATACATTATATTATATATGATATATATTTTATATATTATATTATATATG ATATATATTTTATATATTATATTATATATGATATATATTTTATATATATA TAAAATTTATATATAATATTATATATAATATTATATATTTTATATATAAT ATTATATATAATATTATATATTTTATATATAATATTATATATAATATTAT ATATTTTATATAATATTATATATAATATTATATATTTTATATATAATATT ATATATAATATTATATATTTTATATATAATATATATTATATAATATTATA TATATTATACATTACATAT		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2902		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATATA others(346): Show AATATATAATATATAATATTATATATAATATATAATATACATTATATTAT ATATGATATATATTTTATATATTATATTATATATGATATATATTTTATAT ATTATATTATATATGATATATATTTTATATATATATAAAATTTATATATA ATATTATATATAATATTATATATTTTATATATAATATTATATATAATATT ATATATTTTATATATAATATTATATATAATATTATATATTTTATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATTTTATATATAATATATATTATATAATATTATATATATTATACATTAC ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02165.hp1 HG02040.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	348	0.0058	353	c.97 others(362): Show c.972_*973insATATATAATATATAATATTATATATAATATATAATA TACATTATATTATATATGATATATATTTTATATATTATATTATATATGAT ATATATTTTATATATTATATTATATATGATATATATTTTATATATATATA AAATTTATATATAATATTATATATAATATTATATATTTTATATATAATAT TATATATAATATTATATATTTTATATATAATATTATATATAATATTATAT ATTTTATATAATATTATATATAATATTATATATTTTATATATAATATTAT ATATAATATTATATATTTTATATATAATATATATTATATAATATTATATA TATTATACATTACATAT		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					857		chr2	TogoVar
INVS_chr9_100094243_100307175	100100863	T T	TATAAATT others(346): Show TATAAATTATATATACACATATATAATATATATAATATATATACATATAA TATATATATTATATATACATATATATTATATATATAATATATATTATATA TATAATATATATGTATATATATTATATATACATATATAATATATATTATA TATACATATAATATATATTATATATACATATATAATATATATTATATATA CATATAATATATATTATATATGCATATATAATATATATATTATATATGTA TATATAATATATATATTATATATGCATATATAATATATATTATATATGCA TATATAATATATATTATATATGCATATATAATATATATTATATATGCATA TATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	182	0.0055	353	c.-25 others(370): Show c.-25+1450_-25+1451insAATTATATATACACATATATAATATATA TAATATATATACATATAATATATATATTATATATACATATATATTATATA TATAATATATATTATATATATAATATATATGTATATATATTATATATACA TATATAATATATATTATATATACATATAATATATATTATATATACATATA TAATATATATTATATATACATATAATATATATTATATATGCATATATAAT ATATATATTATATATGTATATATAATATATATATTATATATGCATATATA ATATATATTATATATGCATATATAATATATATTATATATGCATATATAAT ATATATTATATATGCATATATAATA		INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(346): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18953.hp2 NA18961.hp1 HG02647.hp1 NA18953.hp2 NA18961.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0286 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0286	3	326	0.0092	353	c.205 others(370): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAAAATTTTAATATTTTTT		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24						chr1	TogoVar
KCNJ3_chr2_154693695_154863354	154722172	T T	TAAGACAG others(346): Show TAAGACAGCCATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0229 a0001c0001t0009g0229	1	284	0.0035	353	c.919 others(372): Show c.919+12368_919+12369insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGACAGCCATATTG		KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TCTCCAAG others(346): Show TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATA TATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATA TATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGG ATATATATATATATATATATATATATATATATATATATATATCTCCAAGA GGGATATATATATATATATATATATATATATATATATATATATCTCCAAG AGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	232	0.0043	353	c.-67 others(372): Show c.-67-48557_-67-48556insCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATAT ATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATAT ATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATAT ATATATATATATCTCCAAGAGGGATATATATATATATATATATATATATA TATATATATATATATCTCCAAGAGGGATATATATATATATATATATATAT ATATATATATATATATCTCCAAGAGGG		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KHDRBS2_chr6_61674961_62291225	61881368	T T	TGAAAAGA others(346): Show TGAAAAGACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0230 a0001c0003t0007g0230	1	244	0.0041	353	c.810 others(372): Show c.810+13266_810+13267insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGGTCTTTTC		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8						chr6	TogoVar
KIAA0930_chr22_45187244_45245894	45228930	C C	CCCTACCA others(346): Show CCCTACCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCACT CACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGA GATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCT CCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAAC CACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTC ACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCC CTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCA ACCA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0188 a0001c0001t0188	a0001c0001t0188g0394 a0001c0001t0188g0394	1	398	0.0025	353	c.64+ others(370): Show c.64+11709_64+11710insTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTT GGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGA GGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTT CGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTT TGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTG GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGGAGAGG GATCTTTCGGGTGAGTGGTGGTAGG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
LDAH_chr2_20679031_20828101	20738374	A A	ATATATAT others(346): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTATA TATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	258	0.0039	353	c.703 others(370): Show c.703+1596_703+1597insAATATATAGGGAGGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATATATATATATATATATA		LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6						chr2	TogoVar
LIN28B_chr6_104952107_105088332	105023561	A A	ATTATATA others(346): Show ATTATATATTATATATAATATATATTATATATTTTATATATTATATATAA TATATATTATATATTTTATATATTATATATAATATATATTATATATTTTA TATATTATATATAATATATATTATATATTTTATATATTATATATAATATA TATTATATATTTTATATATTATATATAATATATATTATATATTTTATATA TTATATATAATATATATTATATATTTTATATATTATATATAATATATATT ATATATTTTATATATTATATATAATATATATTATATATTTTATATATTAT ATATAATATATATTATATATTTTATATATTATATATAATATATATTATAT ATTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0005 a0001c0002t0007g0005	1	278	0.0036	353	c.199 others(370): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTATATATAATATATATTATATATTTTATATATTATATAT AATATATATTATATATTTTATATATTATATATAATATATATTATATATTT TATATATTATATATAATATATATTATATATTTTATATATTATATATAATA TATATTATATATTTTATATATTATATATAATATATATTATATATTTTATA TATTATATATAATATATATTATATATTTTATATATTATATATAATATATA TTATATATTTTATATATTATATATAATATATATTATATATTTTATATATT ATATATAATATATATTATATATTTT		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(346): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0114 a0002c0054t0001g0114	1	294	0.0034	353	c.153 others(372): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(346): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0079 a0001c0008t0001g0079	1	294	0.0034	353	c.153 others(372): Show c.1530-3024_1530-3023insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCA TCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LURAP1_chr1_46198334_46226256	46213358	A A	AAAGTATA others(346): Show AAAGTATATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCAGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCT GGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0077 a0001c0001t0010g0077	1	356	0.0028	353	c.199 others(370): Show c.199-6324_199-6323insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCTGGCCAAGTATATAAATTTTTT		LURAP1	ENSG00000171357.6	transcript	ENST00000371980.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results