Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF220_chr1_44400255_44656723	44468135	T T	TAAAAAAA others(304): Show TAAAAAAATGGCACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG03209.hp1 others(1): Show HG00438.hp1 HG00642.hp1 HG03209.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0001g0156 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0004g0178	4	218	0.0184	311	c.625 others(330): Show c.625+55429_625+55430insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAATGGCACTGA	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROCK2_chr2_11174759_11349636	11213565	T T	TAAAATAT others(304): Show TAAAATATTTATTACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	1	320	0.0031	311	c.204 others(328): Show c.2043+791_2043+792insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGGTAATAAATATTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	17/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11213570	T T	TATTTATT others(304): Show TATTTATTACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0079 a0002c0002t0079	a0002c0002t0079g0319 a0002c0002t0079g0319	1	320	0.0031	311	c.204 others(328): Show c.2043+786_2043+787insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGGTAATAAAT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	17/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(304): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01123.hp1 others(12): Show HG00639.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01358.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG03471.hp1 HG04204.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0001t0050 a0001c0001t0054 a0001c0001t0066 a0002c0002t0043	a0001c0001t0001g0196 a0001c0001t0004g0208 a0001c0001t0004g0209 others(12): Show a0001c0001t0001g0196 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0007g0211 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0024g0216 a0001c0001t0050g0110 a0001c0001t0054g0214 a0001c0001t0066g0212 a0002c0002t0043g0104	15	320	0.0469	311	c.324 others(326): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RORA_chr15_60483284_61234302	60542445	A A	ACATGCAC others(304): Show ACATGCACACCTCACACACACGGCACACATGCACACCTCACACACGGCAC ACATGCACACCAACACATACACACGGCACACATGCACACCAACACACACA CACGGCACACATGCACACCTCACATACACATGGCACACATGCACACCTCA CACACACGGCACACAGGCACACCTCACACACGGCACACAGGCACACCTCA CACACAGATGGCACACATGCACACCTCACACACGGCACACAGGCACACCT CACACACACATGGCACACATGCACACCTCACACACAGCCGGCACACATGC ACACCTCACACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02897.hp1 others(4): Show HG02258.hp1 HG02451.hp2 HG02897.hp1 HG02976.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0022 a0001c0001t0054 others(4): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0054 a0001c0002t0021 a0001c0002t0055 a0001c0003t0027 a0001c0004t0008	a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 others(4): Show a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 a0001c0002t0021g0018 a0001c0002t0055g0106 a0001c0003t0027g0039 a0001c0004t0008g0071	7	118	0.0593	311	c.197 others(330): Show c.197-10595_197-10594insCGTGTGAGGTGTGCATGTGTGCCGGC TGTGTGTGAGGTGTGCATGTGTGCCATGTGTGTGTGAGGTGTGCCTGTGT GCCGTGTGTGAGGTGTGCATGTGTGCCATCTGTGTGTGAGGTGTGCCTGT GTGCCGTGTGTGAGGTGTGCCTGTGTGCCGTGTGTGTGAGGTGTGCATGT GTGCCATGTGTATGTGAGGTGTGCATGTGTGCCGTGTGTGTGTGTTGGTG TGCATGTGTGCCGTGTGTATGTGTTGGTGTGCATGTGTGCCGTGTGTGAG GTGTGCATGTGTGCCGTGTGTGTGAGGTGTGCATG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPS6KC1_chr1_213046241_213279774	213092711	T T	TCCAAGAT others(304): Show TCCAAGATATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0270 a0004c0004t0005g0270	1	330	0.0030	311	c.263 others(330): Show c.263-11728_263-11727insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCC GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGCCAAGATATGTTTTT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RSPH1_chr21_42467486_42501224	42477234	C C	CGGGGATG others(304): Show CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCA CAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGG GATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTG CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA CTCCACAGCCCG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	408	0.0025	311	c.727 others(324): Show c.727+56_727+57insCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG GGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCC CGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG GGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGG GTGTGGGGCATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGG CTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGT GGAGGGGGCAGAGGGTGTGGGGCATCCCC	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTF1_chr15_41412095_41488563	41430010	T T	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTA TTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG02486.hp2 others(3): Show HG00099.hp1 HG01981.hp1 HG02486.hp2 HG02698.hp1 NA18975.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0028 a0001c0001t0030 others(1): Show a0001c0001t0004 a0001c0001t0028 a0001c0001t0030 a0001c0003t0004	a0001c0001t0004g0182 a0001c0001t0004g0191 a0001c0001t0004g0192 others(3): Show a0001c0001t0004g0182 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0028g0176 a0001c0001t0030g0180 a0001c0003t0004g0190	6	226	0.0266	311	c.199 others(328): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCTTATTTTTTCTTTTC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17			chr15	TogoVar
RTF1_chr15_41412095_41488563	41430010	T T	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTA TTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	226	0.0044	311	c.199 others(328): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCTTATTTTTTCTTTTC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17			chr15	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(304): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18906.hp1 NA18951.hp1 HG03098.hp2 NA18906.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0130	3	210	0.0143	311	c.899 others(326): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SASH1_chr6_148337838_148557044	148515250	A A	AAAGACTA others(304): Show AAAGACTATGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0018 a0001c0034t0002g0018	1	322	0.0031	311	c.862 others(326): Show c.862+809_862+810insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAAGACTATGCTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(304): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTGTCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATC ATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCC AGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0315 a0003c0005t0005g0315	1	414	0.0024	311	c.678 others(326): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAGAGGAAGGAAGGAAGGAGACAACAGTTTTCAAGTACATTACAA ATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCA CCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCT CCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(304): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGG GTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	311	c.464 others(324): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTT GGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(304): Show TTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGG GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGT TGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGTGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTG AGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	290	0.0035	311	c.464 others(324): Show c.464+91_464+92insTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGTGTGGGGTGT TGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52923161	T T	TAAAAAAA others(304): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0033 a0001c0003t0008g0033	1	280	0.0036	311	c.-42 others(322): Show c.-4236_-4235insAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding		4114		chr1	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(304): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	469	0.0021	311	c.22 others(322): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC AGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SEC11C_chr18_59134884_59163832	59152232	G G	GCAGGACT others(304): Show GCAGGACTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02723.hp1 others(6): Show HG01891.hp2 HG02055.hp1 HG02723.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0001t0001g0091	9	444	0.0203	311	c.198 others(326): Show c.198-291_198-290insTTTTTTTTTTTTTGTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGGACTTTTTTT	SEC11C	ENSG00000166562.9	transcript	ENST00000587834.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(304): Show CATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTAT ATATATATTCCCTATATATATATTCCCTATATATATATTCCCTATATATA TATTCCCTATATATATATTCCATATATATATATTCCATATATATATTCCA TATATATATATTCCATATATATATATTTCATATATATATATTCCATATAT ATATTCCATATATATATTCCATATATATATATATTCCATATATATATATA TATTCCATATATATATATTCCATATATATATATATATATATTCCATATAT ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	324	0.0031	311	c.115 others(328): Show c.115-2706_115-2705insATATATATATATATATATGGAATATATA TATATATATATATGGAATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGAAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATAGGGAATATATATATAGGGAATAT ATATATAGGGAATATATATATAGGGAATATATATATAGGGAATATATATA TATGGAATATATATATAGGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CCTATATA others(304): Show CCTATATATATATTCCATATATATATATTCCCTATATATATATTCCATAT ATATATATTCCCTATATATATATTCCATATATATATATTCCCTATATATA TATTCCCTATATATATATTCCATATATATATATTCCATATATATATTCCA TATATATATATTCCATATATATATATTTCATATATATATATTCCATATAT ATATTCCATATATATATTCCATATATATATATATTCCATATATATATATA TATTCCATATATATATATTCCATATATATATATATATATTCCATATATAT ATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	324	0.0031	311	c.115 others(328): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATATATGGAATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGAAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATAGGGAATATATATATAGGGAATAT ATATATATGGAATATATATATAGGGAATATATATATATGGAATATATATA TAGGGAATATATATATATGGAATATATATATAG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERPINB5_chr18_63471958_63510085	63482700	T T	TAAAAATT others(304): Show TAAAAATTACCGAGGACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	410	0.0024	311	c.-7- others(326): Show c.-7-1703_-7-1702insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAATTACCGAGGACCCC	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(304): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(26): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02135.hp1 HG02293.hp2 HG02735.hp1 HG03130.hp1 HG03491.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp2 NA18612.hp2 NA18747.hp1 NA18950.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp2 NA18994.hp2 NA19007.hp1 NA19055.hp1 NA19065.hp2 NA19066.hp1 NA19087.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0077 a0002c0003t0001g0002 a0002c0003t0001g0009 others(16): Show a0001c0002t0001g0077 a0002c0003t0001g0002 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0057 a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0078	29	384	0.0755	311	c.-83 others(320): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(304): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18993.hp1 NA19085.hp1 HG02683.hp1 NA18993.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0002t0004g0283 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0002t0004g0283	3	400	0.0075	311	c.137 others(328): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCA CTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGA GTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTA TTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCT CCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACA GGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(304): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG04204.hp2 HG01099.hp1 HG01255.hp1 HG04204.hp2	a0001 a0035 a0001 a0035	a0001c0003 a0035c0060 a0001c0003 a0035c0060	a0001c0003t0004 a0001c0003t0044 a0035c0060t0108 a0001c0003t0004 a0001c0003t0044 a0035c0060t0108	a0001c0003t0004g0224 a0001c0003t0044g0010 a0035c0060t0108g0309 a0001c0003t0004g0224 a0001c0003t0044g0010 a0035c0060t0108g0309	3	316	0.0095	311	c.257 others(330): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCC CTCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACC CTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT GACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GTGGGGAG others(304): Show GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0080 a0001c0004t0080	a0001c0004t0080g0082 a0001c0004t0080g0082	1	316	0.0032	311	c.257 others(330): Show c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACAC TGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTG ACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401629	G G	GCCCCGCT others(304): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGACCCGC TCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACACCCGGCCCCGCTCACACCCGCCC CGCTTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0073 a0005c0009t0001g0073	1	242	0.0041	311	c.42 others(322): Show c.4266_*4267insGGGTGTGAAGCGGGGCGGGTGTGAGCGGGGCCGG GTGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGT GAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4086		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(304): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG03540.hp1 others(1): Show HG02615.hp2 HG03041.hp2 HG03540.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0012 a0002c0006 a0002c0012	a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 others(1): Show a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0012t0001	a0002c0006t0004g0097 a0002c0006t0007g0004 a0002c0006t0008g0267 others(1): Show a0002c0006t0004g0097 a0002c0006t0007g0004 a0002c0006t0008g0267 a0002c0012t0001g0171	4	292	0.0137	311	c.309 others(330): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(304): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCAGTGAGCCCTCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	118	0.0085	311	c.224 others(330): Show c.2241+2851_2241+2852insGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGAGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTG CTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGT GTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGG CTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGG GGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A13_chr12_39750025_40111081	39816593	G G	GAAAGAAA others(304): Show GAAAGAAAAATCAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19002.hp1 HG01175.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0022 a0001c0002t0004g0015 a0001c0002t0004g0022	2	214	0.0094	311	c.144 others(332): Show c.1445+13509_1445+13510insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCTGATTTTTCTTT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC39A8_chr4_102256666_102350482	102275299	C C	CAAAAACA others(304): Show CAAAAACAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	266	0.0038	311	c.841 others(328): Show c.841-7221_841-7220insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTTTTGTTTTT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	6/8			chr4	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(304): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAATATATATATTATATAAT ATATATATAATATATATAAAATATATATATTATATAATATATATATAATA TATATAAAATATATATATTATATAATATATATATAATATATATAAAATAT ATATATTATATAATATATATATAATATATATATATAATATATATAATATA TATAAAATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19007.hp1 HG01358.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0151 a0001c0001t0001g0045 a0001c0001t0002g0151	2	190	0.0105	311	c.151 others(330): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATAATA TATATATAATATATATAAAATATATATATTATATAATATATATATAATAT ATATATATAATATATATAATATATATAAAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SLTM_chr15_58874050_58938679	58877171	A A	AAGCTTTT others(304): Show AAGCTTTTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA19030.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0268 a0001c0001t0002g0274	2	386	0.0052	311	c.28 others(322): Show c.2827_*2828insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAATTAAAAGCT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding		1878		chr15	TogoVar
SMIM36_chr17_55444856_55516452	55501088	C C	CATTATAT others(304): Show CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATACATTATATTTTATGATAT ATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGAT ATATAATATACATTATATTTTATGATATATAATATACATTATATTTTATG ATATATATTATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	340	0.0029	311	c.17 others(330): Show c.174+9790_*174+9791insTATAATATATATCATAAAATATAATG TATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAA ATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATA AAATATAATGTATATTATATATCATAAAATATAAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(304): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	366	0.0027	311	c.265 others(328): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(304): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02071.hp2 HG02132.hp1 others(1): Show HG01975.hp1 HG02071.hp2 HG02132.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0029 a0001c0002t0001g0031 a0002c0003t0001g0030 others(1): Show a0001c0002t0001g0029 a0001c0002t0001g0031 a0002c0003t0001g0030 a0002c0003t0001g0183	4	190	0.0211	311	c.72+ others(328): Show c.72+14097_72+14098insGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(304): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	190	0.0053	311	c.72+ others(328): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGA CTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00738.hp1 others(51): Show HG00408.hp1 HG00558.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01975.hp2 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02559.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03491.hp2 HG03579.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp1 NA19010.hp2 NA19058.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0008 a0001c0001 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0022 a0001c0004t0013 a0003c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0036 others(46): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0330 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0198 a0001c0001t0004g0202 a0001c0001t0004g0253 a0001c0001t0005g0167 a0001c0001t0017g0180 a0001c0001t0022g0174 a0001c0004t0013g0021 a0001c0004t0013g0189 a0003c0008t0001g0196	54	380	0.1421	311	c.-13 others(328): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAG CCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGA CTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	380	0.0026	311	c.-13 others(328): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAG CCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449238	C C	CCTTCCTC others(304): Show CCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCT CCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCC TCTTTTCCCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	168	0.0060	311	c.548 others(330): Show c.548+52885_548+52886insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCC ATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAG16_chr2_213279464_214415501	213647558	T T	TAGAAGTT others(304): Show TAGAAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	86	0.0116	311	c.107 others(334): Show c.1070+157479_1070+157480insTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGAAGTTTCTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49492383	G G	GCTAATAT others(304): Show GCTAATATTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTTCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 HG03579.hp2 others(1): Show HG02809.hp2 HG03471.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 others(1): Show a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029	4	158	0.0253	311	c.264 others(328): Show c.264+1670_264+1671insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTCAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTTCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTAATATTTGTATTTTTT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(304): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	418	0.0024	311	c.54 others(322): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(304): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	418	0.0024	311	c.54 others(322): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(304): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	260	0.0039	311	c.138 others(330): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(304): Show GCCACACACATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19043.hp2 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0257 a0001c0001t0003g0261	2	396	0.0051	311	c.485 others(326): Show c.485+522_485+523insATTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRXN1_chr20_641615_658200	642166	G G	GGGGGGCC others(304): Show GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGG GTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	311	c.65 others(322): Show c.6547_*6548insAGGCAACTCCACCCCCCGCTGGGCCTCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCACCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4448		chr20	TogoVar
SSR2_chr1_156004048_156025951	156004603	C C	CCTCCTGC others(304): Show CCTCCTGCCTCAGCCTCCTGAGTAGAAGGGAGCATGATTTACCCAAGGTC ATACAGCCAGTGAGTGGTGGAGTTGGGGCGGGACCCAGTACTCCTGCCTC TGGCATACGTTGCTTCCCCCACTCTTAGCTGCTCTCTCAAGGGACTAAGC CTTGGTAACTTCTCATCCTTTCACTGAATCGCTCCATTACTTCCAGCTTT GTAGAAATTCTTTTTTTTTTTTTGAGATGGAGTTTCACTTTTTTATCCAG GCTGGAGTGCAACGGCATGATCTTGGCTCACTGCAACCTCCGCCCACCGG GTTCAAGTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	311	c.49 others(322): Show c.4936_*4937insAATCACTTGAACCCGGTGGGCGGAGGTTGCAGTG AGCCAAGATCATGCCGTTGCACTCCAGCCTGGATAAAAAAGTGAAACTCC ATCTCAAAAAAAAAAAAAGAATTTCTACAAAGCTGGAAGTAATGGAGCGA TTCAGTGAAAGGATGAGAAGTTACCAAGGCTTAGTCCCTTGAGAGAGCAG CTAAGAGTGGGGGAAGCAACGTATGCCAGAGGCAGGAGTACTGGGTCCCG CCCCAACTCCACCACTCACTGGCTGTATGACCTTGGGTAAATCATGCTCC CTTCTACTCAGGAGGCTGAGGCAGGAG	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4444		chr1	TogoVar
SUFU_chr10_102498972_102638535	102637300	A A	ATATATAA others(304): Show ATATATAATATATATATTATATATTATATAACATATATTATATATAATAT ATATTATATATTATATAACTATATATTATATATAATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATGTATATTATATATTATATAACTATATATTATATATAATATGTAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0018 a0001c0001t0014g0018	1	268	0.0037	311	c.71 others(322): Show c.7145_*7146insTATATAATATATATATTATATATTATATAACATA TATTATATATAATATATATTATATATTATATAACTATATATTATATATAA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATGTATATTATATATTATATAACTATATATT ATATATAATATGTATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3766		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637308	T T	TATATATA others(304): Show TATATATATTATATATTATATAACTATATAGTATATATATAATTATATAT TTATATACTATATATATATATATATATTATATATTATATACTATATATTA TATATAATATATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TAATATATATATTATATATATAACTATATATTATATATAATATATATTAT ATTATATAACTATATTATATATAATATATATATTATATATTATATACTAT ATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	268	0.0037	311	c.71 others(322): Show c.7153_*7154insATATATATTATATATTATATAACTATATAGTATA TATATAATTATATATTTATATACTATATATATATATATATATTATATATT ATATACTATATATTATATATAATATATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATAATATATATATTATATATATAACTATATATTATA TATAATATATATTATATTATATAACTATATTATATATAATATATATATTA TATATTATATACTATATATTATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3774		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(304): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0233 a0001c0001t0022g0233	1	268	0.0037	311	c.75 others(322): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SVEP1_chr9_110360248_110584741	110373614	T T	TAGCAAGC others(304): Show TAGCAAGCCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCA CTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03098.hp2 HG03209.hp2	a0007 a0053 a0007 a0053	a0007c0078 a0053c0116 a0007c0078 a0053c0116	a0007c0078t0004 a0053c0116t0009 a0007c0078t0004 a0053c0116t0009	a0007c0078t0004g0120 a0053c0116t0009g0067 a0007c0078t0004g0120 a0053c0116t0009g0067	2	362	0.0055	311	c.106 others(332): Show c.10600+1753_10600+1754insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATC GCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAACATAGGGCTTGCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	46/47			chr9	TogoVar

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