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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(492): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACTATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	312	0.0032	499	c.513 others(514): Show c.513-959_513-958insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCAC TACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
FBXO47_chr17_38931432_38972403	38946605	T T	TATATGAA others(492): Show TATATGAATAAAAATATATAAAAATATATACATATATAAATATAAATATA TAATATATAAATATATAAATATATAAATATATAAATATAAATATATAAAA ATATATAAATATATAAAAATATATAAATATATAAAAATATATAAAAATAT ATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAAAT ATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAAT ATATATACATAAATATATAAATATATAAATATATAAATATATAAATATAT AAATACATAATATATAAATATAAAATATATATAATATATAAATATAAAAT ATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAAT ATATAAATATATAAAAATATATAAAAAATATATACACATATAAATATATA TAAAAATATATAAATATATATAAAAATATATAAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	319	0.0031	499	c.617 others(516): Show c.617-1470_617-1469insTTATATATAATATATATTTATATATTTT TATATATATTTATATATTTTTATATATATTTATATGTGTATATATTTTTT ATATATTTTTATATATTTATATATTTTTTATATATATTTTTATATTTTTA ATATATTTTATATATTATATATATTTTATATTTATATATTATATATATTT TATATTTATATATTATGTATTTATATATTTATATATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATATTTATATATTTATGTATTT ATATATTTTTATATATTTATATATTTATATATTTTTATATATTTATATAT TTATATATTTATATATATTTATATATTTTTATATATTTTTATATATTTAT ATATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTTAT ATATTTATATATTTATATATTATATATTTATATTTATATATGTATATATT TTTATATATTTTTATTCATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(492): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0211 a0002c0002t0004g0211	1	224	0.0045	499	c.39 others(510): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CTGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTC CCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCC TCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCT CCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(492): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTGGAGACGGAGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02132.hp2 HG02809.hp1 others(8): Show HG01891.hp2 HG02132.hp2 HG02809.hp1 NA18947.hp1 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA19000.hp2 NA19007.hp1 NA19062.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0021 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0021 a0001c0003t0001	a0001c0001t0001g0265 a0001c0002t0001g0052 a0001c0002t0001g0098 others(8): Show a0001c0001t0001g0265 a0001c0002t0001g0052 a0001c0002t0001g0098 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0002t0001g0202 a0001c0002t0001g0245 a0001c0002t0001g0398 a0001c0002t0021g0046 a0001c0003t0001g0274	11	98	0.1122	499	c.146 others(516): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTGGAGACGGAGCCTCAC TCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GP6_chr19_55008705_55043264	55033081	T T	TAGACGCG others(492): Show TAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTGTTA GACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACG CGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGT GGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGG GTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGT TCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTC GTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCGTTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	425	0.0024	499	c.35- others(512): Show c.35-544_35-543insGAACGAACCCTCCGCGTCTAACACGAACGAGC CCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCC ACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTC CGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTC TAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTA ACACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAAC ACGAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGA ACGAGTCCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(492): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	5	0.2000	499	c.-41 others(514): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGC TGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM4B_chr19_4964113_5158598	5131642	A A	AGGGGGGC others(492): Show AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAG GGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGG GAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	260	0.0038	499	c.178 others(516): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGG GGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGCGGGGGAGGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(492): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02572.hp2 others(2): Show HG02109.hp2 HG02257.hp1 HG02572.hp2 HG02723.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0042 a0001c0002t0077 others(1): Show a0001c0001t0044 a0001c0002t0042 a0001c0002t0077 a0001c0002t0078	a0001c0001t0044g0197 a0001c0002t0042g0012 a0001c0002t0077g0247 others(1): Show a0001c0001t0044g0197 a0001c0002t0042g0012 a0001c0002t0077g0247 a0001c0002t0078g0246	5	187	0.0267	499	c.353 others(514): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGG GAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LINGO2_chr9_27932617_29218601	28189683	G G	GGAAGGGA others(492): Show GGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGG AAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAA GGAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGG AAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAA GGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGG AAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0010 a0001c0001t0013g0010	1	61	0.0164	499	c.-36 others(520): Show c.-36+105524_-36+105525insTTCCTTCCTTCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTT CCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCC TTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCC TTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTT CCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTT CCTTCCTCCCTCCCTCCCTCCCTTC	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRP5_chr11_68307591_68454275	68428924	G G	GAAAAAAA others(492): Show GAAAAAAAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTT TGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGC CGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGT GGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGA AACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGT AGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCA CTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	96	0.0104	499	c.363 others(516): Show c.3638-640_3638-639insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(492): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(33): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02083.hp1 HG02165.hp1 HG02717.hp2 HG02735.hp1 HG02965.hp2 NA18906.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18983.hp1 NA19057.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0014	a0001c0004 a0001c0013 a0002c0003 others(7): Show a0001c0004 a0001c0013 a0002c0003 a0002c0028 a0002c0033 a0003c0023 a0004c0008 a0005c0010 a0006c0018 a0014c0048	a0001c0004t0001 a0001c0013t0001 a0002c0003t0001 others(7): Show a0001c0004t0001 a0001c0013t0001 a0002c0003t0001 a0002c0028t0001 a0002c0033t0001 a0003c0023t0001 a0004c0008t0001 a0005c0010t0001 a0006c0018t0001 a0014c0048t0001	a0001c0004t0001g0088 a0001c0004t0001g0111 a0001c0013t0001g0054 others(33): Show a0001c0004t0001g0088 a0001c0004t0001g0111 a0001c0013t0001g0054 a0001c0013t0001g0055 a0001c0013t0001g0193 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0037 a0002c0003t0001g0043 a0002c0003t0001g0045 a0002c0003t0001g0053 a0002c0003t0001g0056 a0002c0003t0001g0059 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0067 a0002c0003t0001g0072 a0002c0003t0001g0076 a0002c0003t0001g0110 a0002c0003t0001g0115 a0002c0003t0001g0129 a0002c0003t0001g0169 a0002c0028t0001g0048 a0002c0033t0001g0069 a0003c0023t0001g0027 a0004c0008t0001g0140 a0004c0008t0001g0195 a0004c0008t0001g0196 a0004c0008t0001g0197 a0004c0008t0001g0199 a0005c0010t0001g0035 a0005c0010t0001g0039 a0005c0010t0001g0144 a0005c0010t0001g0147 a0006c0018t0001g0051 a0014c0048t0001g0182	36	96	0.3750	499	c.363 others(516): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(492): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	61	0.0164	499	c.363 others(516): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGGGGGC others(492): Show TGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTG GAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCG TGGAGGGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGC ACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGA GGAGGGGCGCGTGGAGGGGGGGAGCGTGGGGGGAGGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0046 a0005c0005t0001g0046	1	285	0.0035	499	c.159 others(516): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAG GGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGGGC GCGTGGAGGGGGGGAGCGTGGGGGGAGGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGCGTGGA others(492): Show CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGG GCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGG GGGTGTGGAGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGG GCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGG GGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGAGCGTGGGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	335	0.0030	499	c.159 others(516): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGCGCGTGGGGGTGTGTGGGGGGGGC ACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCG TGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGG GGAGCGTGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(492): Show ATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATA TTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATATAT TTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTAT ATATATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAAT CTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19058.hp2 NA18948.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0014 a0001c0001t0014g0013 a0001c0001t0001g0014 a0001c0001t0014g0013	2	278	0.0072	499	c.-5+ others(514): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGAT TTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATAT AAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAAT ATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATATAAA ATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATAAAA TATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATT TTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATA TATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTAT GTATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATA AAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(492): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TAATATATAATATATATTATATATAAATATATATATAATATATATTATAT ATTATATATAAATATATAATATATAATATATATTATATTATATATTATAT AATATGTAAATATATATTATATATATTATATAATATATAATATATTATAT ATATTATATAATATATTATATATAATATAATATATTATATATTATATAAT ATATTATATATTATATAATATATTATATATAATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19000.hp2 NA18953.hp1 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0003 a0002c0003t0004g0198 a0002c0003t0004g0003 a0002c0003t0004g0198	2	203	0.0099	499	c.48+ others(514): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATATAATATATATTATATATTATATATAAATATATAATATATAATATATA TTATATTATATATTATATAATATGTAAATATATATTATATATATTATATA ATATATAATATATTATATATATTATATAATATATTATATATAATATAATA TATTATATATTATATAATATATTATATATTATATAATATATTATATATAA TATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(492): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGA GAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAG GGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAG GGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGG AGGGAGAAGGAGAGGGAGAGGGGGAGGGGAGAGGGAGAGAGAGGGAGAGG GAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0349 a0001c0001t0027g0349	1	220	0.0045	499	c.92 others(510): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCCTCCCCCTCT CCCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCC TCCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCC CTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCT CCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCC TCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCC TCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCTCTCTC TCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCTCT GTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCT CTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(492): Show GGGGAGGGAGGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGT AGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGAC AGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAG AGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAG AGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGA GGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGG GAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGG GAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0260 a0001c0001t0010g0260	1	220	0.0045	499	c.92 others(510): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCT CCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCT CTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCTCTCTCT CCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCTCTG TCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTC TCCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(492): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	254	0.0039	499	c.-16 others(510): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(492): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATGTATACT CTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0002	1	254	0.0039	499	c.-16 others(510): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATGTATACTCTATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(492): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC CCTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACTCCTTCCCCACCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCCACG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	314	0.0032	499	c.436 others(514): Show c.436-220_436-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGTGGGGAAG GAGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGT GGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGG AAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504394	C C	CCCCCCTT others(492): Show CCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTTGCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCAC CCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCC TGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCC CATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTA CCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19054.hp2 HG02738.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0077 a0001c0001t0008g0076 a0001c0001t0008g0077	2	282	0.0071	499	c.139 others(518): Show c.1396-1124_1396-1123insTGCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTT GCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCC CTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTC ACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGC ACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTA CCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCC CCTCACCTCCTCCTGTACCCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAAGGA others(492): Show AAAAAGGAAAGGAAAGGAAAGGGAAAGGGAAAGGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAA GGAAAAGGAAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	264	0.0038	499	c.132 others(516): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTTCCTTTTCCTTTTCCTTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCCTTTCCCTTTC CCTTTCCTTTCCTTTCCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348471	A A	AAAAGGAA others(492): Show AAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAA AAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAA GGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAGGG AAAGGGAAAAGGAAAAGGAAAGGGAAAAGGAAAAGGGAAGGGAAAAGGAA AAGGGAAGGGAAAAGGAAAAGGGAAGGGAAAAGGAAAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	267	0.0037	499	c.132 others(516): Show c.132+2876_132+2877insCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTTCCTTTTCCCTTC CCTTTTCCTTTTCCCTTCCCTTTTCCTTTTCCCTTCCCTTTTCCTTTTCC CTTTCCTTTTCCTTTTCCCTTTCCCTTTCCTTTTCCTTTTCCTTTTCCTT TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTT CCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCC TTTTCCTTTTCCTTTTCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(492): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATATAATATATAATATATAATATATAATATATATAATATATAATATAT ATTATATATAATATATATATTATATATAATATATAATATATATAATATAA TATATATAATATAATATATATATTATATATAATATATATTATATATTATA TATAATATATATTTATATATAATATATAAATATATATTATATATAATATA TAATATATAATTATATATTATATATTATATATAATATATATTTATATATA ATATATAAATATAATTATATATTATATATAATATATAAATATATATTATA TATAATATATAATATATATTTATATATTATATATTATATATAATATATAT TTATATATTATATATAATATATATTTATATATTATATATATTTAATATAT ATTTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	29	0.0345	499	c.193 others(518): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAA ATATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATATTATATATTATATATTATATATT ATATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27919292	G G	GGGAGGAG others(492): Show GGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAG AGAAGGGAAGGGAGGAGGAGGGGAGAGGAAAGGAGGAGGAGAAGGGTGAG GAGGAGAGAAGGGAGAGGAGGGAGAGAGGAGGAGGAGAAGGAGGAGGAGG AAGGAGAGGAGAGGAGGAGGAGGAGGAGAGAAGGAGGAGGAGGAGAGAGG GCGCACGGTCTTGGTCGAGCTGGGCAGGAGGAGGAGAGAAGGGAGGAGGA GGAGAGAAGGGAGGAGGAGGAGAGAAGGTGAGGAGAGGAGAGAGAGGGAG GAGGAGAGAGAAGGGCTGCGCGACGGGCTGCGGCGCGTCCGGGCCTTTGT CTCTGCCCTTTGCATGTCTCGTCCGCGGTCCCTCGGTCTGCTTGCGTGGC CACTGCGTCCCTCCTGCTCCTTCTTCTTCTTCCTCTCCTGGCTCTTCTGT CCTCGTCGTCCGCTCCCTCTTCTCCTTCCTCGCCTCGAGCCGGGTCTGCA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0090 a0001c0002t0007g0090	1	312	0.0032	499	c.916 others(516): Show c.916+2278_916+2279insTGCAGACCCGGCTCGAGGCGAGGAAGGA GAAGAGGGAGCGGACGACGAGGACAGAAGAGCCAGGAGAGGAAGAAGAAG AAGGAGCAGGAGGGACGCAGTGGCCACGCAAGCAGACCGAGGGACCGCGG ACGAGACATGCAAAGGGCAGAGACAAAGGCCCGGACGCGCCGCAGCCCGT CGCGCAGCCCTTCTCTCTCCTCCTCCCTCTCTCTCCTCTCCTCACCTTCT CTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTGCC CAGCTCGACCAAGACCGTGCGCCCTCTCTCCTCCTCCTCCTTCTCTCCTC CTCCTCCTCCTCTCCTCTCCTTCCTCCTCCTCCTTCTCCTCCTCCTCTCT CCCTCCTCTCCCTTCTCTCCTCCTCACCCTTCTCCTCCTCCTTTCCTCTC CCCTCCTCCTCCCTTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCC TCTATTCTCTCCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(492): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTG GGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	165	0.0121	499	c.464 others(512): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGT TGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281197	T T	TCTCAGCC others(492): Show TCTCAGCCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCT CCCCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCAC CTCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTC ACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTTCTCAGCCACCCTCCT GTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCACCCT CCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCT CCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCAC CCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCAC CCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGC CACCCTCCTGTCACCTCCCTTCTCAGCCACCCTCCTGTCACCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0193 a0001c0006t0012g0193	1	268	0.0037	499	c.484 others(516): Show c.484+9848_484+9849insGAGGGGGAGGTGACAGGAGGGTGGCTGA GAAGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGC TGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGT GGCTGAGGGAGATGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGAGGG TGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAG GGTGGCTGAGGGAGATGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGA GGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGAAGGGAGGTGACA GGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGA CAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGT GACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGCTGAGGAGGGA GGTGACAGGAGGGTGGCTGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SIGIRR_chr11_400716_419999	401147	A A	ACCCGCCC others(492): Show ACCCGCCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	217	0.0046	499	c.47 others(510): Show c.4748_*4749insGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGG GTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGA GCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGG GTGAGCGGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4568		chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(492): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGGA GTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAA GCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCGC CACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTGT TGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGCC TCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAAA GTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTGA TCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAAA CAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03041.hp2 HG02896.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0073 a0001c0001t0003 a0001c0002t0073	a0001c0001t0003g0109 a0001c0002t0073g0111 a0001c0001t0003g0109 a0001c0002t0073g0111	2	138	0.0145	499	c.17+ others(516): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCCT TTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(492): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGGA GTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAA GCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCGC CACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTGT TGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGCC TCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAAA GTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTGA TCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAAA CAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01884.hp1 HG02486.hp1 others(15): Show HG01169.hp2 HG01884.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03704.hp1 HG04184.hp1 NA18967.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0036 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0005t0032 a0001c0006t0030	a0001c0001t0002g0094 a0001c0001t0003g0125 a0001c0001t0003g0126 others(14): Show a0001c0001t0002g0094 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0013g0296 a0001c0001t0015g0300 a0001c0001t0019g0132 a0001c0001t0036g0002 a0001c0002t0003g0150 a0001c0002t0005g0093 a0001c0002t0008g0148 a0001c0002t0010g0293 a0001c0002t0010g0298 a0001c0005t0032g0295 a0001c0005t0032g0297 a0001c0006t0030g0294	18	154	0.1169	499	c.17+ others(516): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCCT TTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(492): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG GCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCG GGGGGGGGCGGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0047 a0001c0001t0014g0047	1	25	0.0400	499	c.914 others(518): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC CGCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCCCCCCGCCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCC GCCTCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCG CCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCCGCCTCCTCCCCCTCCGGC CCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCC CCGCCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203230	A A	AAAGAGAG others(492): Show AAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGGAGAGGGAGAG GGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAG AGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGAGGGAGAGGAGAGAG GGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGAGAGAGAGA GACCGTGGAGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGGGGA GAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGAGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0030 a0002c0001t0030	a0002c0001t0030g0030 a0002c0001t0030g0030	1	183	0.0055	499	c.83 others(510): Show c.8341_*8342insCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTC TCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCTCTCCCTCTCTCCCCTCTCTCTCTCTCTCCACGGTCTCCCTCTC CCTCTCCTCCACGGTCTCTCTCTCTCCTCTCTCTCTCTCTCCCTCTCTCC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCT CTCTCTCCCTCTCTCCCTCTCTCCTCTCCCTCTCTCTCTCTCTCTCTCCA CGGTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCC TCTCTCCACGGTCTCCCTCTCCCTCTCCCCTCTCCCTCTCTCCACGGTCT CCCTCTCCCTCTCTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3943		chr8	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(492): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGGAGAG AGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGA GGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGG GAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGG GAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0006 a0001c0018t0002g0006	1	131	0.0076	499	c.22 others(510): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GAGAGGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGG AGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGA GATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGG AGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAG AGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(492): Show GGGGAGGGAGGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGT AGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGAC AGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAG AGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAG AGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGA GGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGG GAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGG GAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0075 a0001c0021t0002g0075	1	131	0.0076	499	c.22 others(510): Show c.2268_*2269insGGGAGGGAGGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGG GGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGG AGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGA GATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGG AGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAG AGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(492): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATAATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATCATATATTATATATGATTATAAAATATAATCATATATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	9	0.1111	499	c.75 others(510): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATAATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATCATATATTATATATGATTATAAAATATAA TCATATATTATATATGATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48736325	T T	TAGAGTCC others(492): Show TAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGA GTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCC ATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATC CCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCC CCAGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAA TGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCCCCAAGGAGGAATGAG AATCGCACTCCTGGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATC ACACTCCTGGAGTCCATCCCCCCGAGGAGGAATGAGAATCACACTCCCAG AGTCCACAGAGTCTATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAG TCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACACTCCTGGAGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 NA20300.hp1 HG02622.hp1 HG02922.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0033 a0001c0001t0001 a0001c0001t0028 a0001c0001t0033	a0001c0001t0001g0012 a0001c0001t0028g0018 a0001c0001t0033g0034 a0001c0001t0001g0012 a0001c0001t0028g0018 a0001c0001t0033g0034	3	197	0.0152	499	c.391 others(518): Show c.391-13506_391-13505insGAGTCCATCCCCCCAGGAGGAATGAG AATCGCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATC ACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAG AGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGT CCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCAT CCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCC CCAAGGAGGAATGAGAATCGCACTCCTGGAGTCCAGAGTCCATCCCCCCA GGAGGAATGAGAATCACACTCCTGGAGTCCATCCCCCCGAGGAGGAATGA GAATCACACTCCCAGAGTCCACAGAGTCTATCCCCCCAGGAGGAATGAGA ATCGCACTCCTAGAGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATC ACACTCCTGGAGTCCAGAGTCCA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377340	C C	CTCTGTGC others(492): Show CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTG CCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0136 a0001c0004t0003g0136	1	168	0.0060	499	c.-13 others(510): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GACCCCTG others(492): Show GACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTC AGACCCCTGTCCCCATACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCAGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	98	0.0102	499	c.23 others(510): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT ATGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2095		chr11	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(492): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTC ACCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCACCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	10	0.1000	499	c.-25 others(518): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCC TATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCA CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCACCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTT CTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(492): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCACATGATGATATGATACTATATCATCACATGATGATATGATACTA TATCATCACATGATGATATGATACTATATCATCACATGATGATATGATAC TATATCATCACATGATGATATGATACTATATCATCACATGATGATATGAT ACTATATCATCACATGATGATATGATACTATATCATCACATGATGATATG ATACTATATCATCACATGATGATATGATACTATATCATCACATGATGATA TGATACTATATCATCACATGATGATATGATACTATATCATCACATGATGA TATGATACTATATCATCACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0039 a0001c0002t0071g0039	1	87	0.0115	499	c.41- others(516): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAC ATGATGATATGATACTATATCATCACATGATGATATGATACTATATCATC ACATGATGATATGATACTATATCATCACATGATGATATGATACTATATCA TCACATGATGATATGATACTATATCATCACATGATGATATGATACTATAT CATCACATGATGATATGATACTATATCATCACATGATGATATGATACTAT ATCATCACATGATGATATGATACTATATCATCACATGATGATATGATACT ATATCATCACATGATGATATGATACTATATCATCACATGATGATATGATA CTATATCATCACATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(492): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0095 a0001c0002t0028g0095	1	87	0.0115	499	c.41- others(516): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCTCCTCCTTCCCCTTC CCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCACCTTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCTTCTTCCTCCTCCCTTCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTC CCTCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCTCCTCCCTTCCCCCTTTCTCCTTATCCCTCCTCCCT TCCCCCTTCCTCCTTCCCCTTCCACCCTTCCCCCTTACCCCCTCCTCTCT TCCTCCTTCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0032 a0002c0024t0001g0032	1	8	0.1250	499	c.657 others(514): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTC TCCTCCTTCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCA CCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCTTCTTCCTCCTCCCTTCCCCTTCTTCCCTCCCC CCTTCCCCCTTCCTCCCTCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTTCTCC TTATCCCTCCTCCCTTCCCCCTTCCTCCTTCCCCTTCCACCCTTCCCCCT TACCCCCTCCTCTCTTCCTCCTTCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCC	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(492): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0153 a0010c0012t0001g0153	1	8	0.1250	499	c.657 others(514): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCC	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(492): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp2 HG02273.hp1 others(3): Show HG01928.hp2 HG01993.hp2 HG02273.hp1 HG03540.hp1 HG03704.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0162 a0001c0002t0002g0161 a0001c0002t0002g0163 others(3): Show a0001c0001t0001g0162 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166	6	13	0.4615	499	c.657 others(514): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTATGT others(492): Show GTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTT TGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGT GTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTAT GTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTGT ATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGT GTGTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGT GGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGT GTGTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	3	0.3333	499	c.36 others(514): Show c.36-681_*36-680insTGTAGTGTGGGGTGTGTGTAGTGTGTGGTA TGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTG GTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGT TTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTG TATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGG TGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGT GGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGT ATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTT GTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTG GTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGT GGTATGTGGTGTGTATGTA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909242	T T	TATGTGGT others(492): Show TATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGG TGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTG TATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGT GTGTGTATGTGGGGGTGGGGTGTGTGGTTAGGATATGTGTATGTGGTGTG TAGTGTGGGGTGTGGTAGTAGTGTCTGGTATGTTTGAGTGTGTGTGTGTG TGTATGTGGGTAGGAGTGTGTGTGTTATGTGGGTGTTAGCGTTTTAGAGT TACATAGTACAGTATTAGAGACAGTACTGTAGTGTGGGATTTTGTGTAGT AGTGATATTGATATGTTAGAGTTCTAGTGTGTATGTGGTGAGATAGTACG TGTGAGTAGGTATAGTATATATATACGTATATTTGATAGTGAGTCTAGTG ATGACATAGGTGTGATTTATGTTAGGGATCGTGTGGATAGTGGGACTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	336	0.0030	499	c.36 others(514): Show c.36-600_*36-599insATGTGGTGTGTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTG TTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAG TGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTGGTTAG GATATGTGTATGTGGTGTGTAGTGTGGGGTGTGGTAGTAGTGTCTGGTAT GTTTGAGTGTGTGTGTGTGTGTATGTGGGTAGGAGTGTGTGTGTTATGTG GGTGTTAGCGTTTTAGAGTTACATAGTACAGTATTAGAGACAGTACTGTA GTGTGGGATTTTGTGTAGTAGTGATATTGATATGTTAGAGTTCTAGTGTG TATGTGGTGAGATAGTACGTGTGAGTAGGTATAGTATATATATACGTATA TTTGATAGTGAGTCTAGTGATGACATAGGTGTGATTTATGTTAGGGATCG TGTGGATAGTGGGACTGGA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UVSSA_chr4_1342208_1393049	1372708	A A	AGCACTCA others(492): Show AGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTTA CCTCCCGCATCTCAGAGCACTCATCTCCTGCTACTCAGCACTCACCTCCC GCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCC CTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCAC TCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCT CCTGCTACTCAGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAG CACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCA CCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGC GTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp2 NA18990.hp1 others(1): Show HG02040.hp2 HG02155.hp2 NA18990.hp1 NA18993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0238 a0001c0004t0001g0247 a0001c0004t0001g0027 a0001c0004t0001g0238 a0001c0004t0001g0247	4	357	0.0112	499	c.128 others(518): Show c.1289-2609_1289-2608insTACCTCCCGCATCTCAGAGCACTCAT CTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAG GGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACT CACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCC GCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGT CCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCAC TCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCT CCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTC TCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCA CTCACCTCCCGCGTCCCTGCACT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VPS53_chr17_503668_719839	619294	T T	TCCGGGTA others(492): Show TCCGGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCGCTAATATTT CCCGGGTAGCTGGGACTACAGGCGCGCACCACCATGCCCCGCTAATATTT CCCGGGTAGCTGGGACTACAGGCGTGCACCACCACACCCCACTAATATTT TCCGGGTAGCTGGGACTACAGGCGTGCACCACCACGCCTGCTTATATTTC CCGGATAGCTGGGACTACAGGCGTGCACCACCACACCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGTGTACCACCACACCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGTGTACCACCACACCCCACTAATATTTC CCGGGTAGCTGGGACTACAGGCACGCACCACCACGCCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATATTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0142 a0001c0001t0111g0142	1	226	0.0044	499	c.111 others(518): Show c.1116+4238_1116+4239insGAAATATTAGCGGGGCGTGGTGGTGC GCGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGC GCGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGC GTGCCTGTAGTCCCAGCTACCCGGGAAATATTAGTGGGGTGTGGTGGTAC ACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGTGTGGTGGTAC ACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGC ACGCCTGTAGTCCCAGCTATCCGGGAAATATAAGCAGGCGTGGTGGTGCA CGCCTGTAGTCCCAGCTACCCGGAAAATATTAGTGGGGTGTGGTGGTGCA CGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCATGGTGGTGCG CGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCA TGCCTGTAGTCCCAGCTACCCGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(492): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0066 a0001c0001t0007g0100 a0001c0001t0003g0066 a0001c0001t0007g0100	2	34	0.0588	499	c.53- others(512): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCC TCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTC CCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results