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
PIEZO1_chr16_88710338_88790220	88712921	C C	CCCCCTTC others(455): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC CTTTCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG03139.hp1 HG00621.hp2 HG03139.hp1	a0037 a0075 a0037 a0075	a0037c0128 a0075c0123 a0037c0128 a0075c0123	a0037c0128t0001 a0075c0123t0023 a0037c0128t0001 a0075c0123t0023	a0037c0128t0001g0141 a0075c0123t0023g0277 a0037c0128t0001g0141 a0075c0123t0023g0277	2	282	0.0071	462	c.26 others(473): Show c.2683_*2684insCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGG GTATGAGTGGGGGTCAGGGCCCGGGAAAGGGGGGCTCTCAGGGGCATGAG TGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC AGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2416		chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTCTGCC others(455): Show TGTCTGCCTAGCCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0162 a0001c0002t0003g0162	1	408	0.0025	462	c.-10 others(479): Show c.-10+1012_-10+1013insGTCTGCCTAGCCTGTGTGTGTGTGTCTG CCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTAT ATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(455): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0002 a0022c0025t0002	a0022c0025t0002g0052 a0022c0025t0002g0052	1	216	0.0046	462	c.106 others(479): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PLCB1_chr20_8127266_8889900	8493679	T T	TGAGAGTC others(455): Show TGAGAGTCTGCATGAGTGCTGTGTGCTATAGCATCACTGGAAGCTGAACC TCAGGTAGTAGCCCTTACCTTGGTGTACGAGAGTCTGCATGAGTGCTGTG TGCTATAGCATCACTGGAAGCCGAACCTCAGGTAGTAGCCCTTACCTTGG TGTATGAGAGTCTGCATGAGTGCTGTGTGCTATAGCATCACTGGAAGCCG AACCTCAGGTAGTAGTCCTTACCTTGGTGTATGAGAGTCTGCATGAGTGC TGTGTGCTATAGCATCACTGGAAGCTGAACCTCAGGTAGTAGCCCTTACC TTGGTGTACGAGAGTCTGCATGAGTGCTGTGTGCTATAGCATCACTGGAA GCTGAACCTCAGGTAGTAGCCCTTACCTTGGTGTACGAGAGTCTGCATGA GTGCTGTGTGCTATAGCATCACTGGAAGCTGAACCTCAGGTAGTAGCCCT TACCTTGGTGTAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0064 a0001c0005t0002g0064	1	106	0.0094	462	c.246 others(483): Show c.246+122349_246+122350insCGAACCTCAGGTAGTAGCCCTTAC CTTGGTGTATGAGAGTCTGCATGAGTGCTGTGTGCTATAGCATCACTGGA AGCCGAACCTCAGGTAGTAGTCCTTACCTTGGTGTATGAGAGTCTGCATG AGTGCTGTGTGCTATAGCATCACTGGAAGCTGAACCTCAGGTAGTAGCCC TTACCTTGGTGTACGAGAGTCTGCATGAGTGCTGTGTGCTATAGCATCAC TGGAAGCTGAACCTCAGGTAGTAGCCCTTACCTTGGTGTACGAGAGTCTG CATGAGTGCTGTGTGCTATAGCATCACTGGAAGCTGAACCTCAGGTAGTA GCCCTTACCTTGGTGTACGAGAGTCTGCATGAGTGCTGTGTGCTATAGCA TCACTGGAAGCTGAACCTCAGGTAGTAGCCCTTACCTTGGTGTACGAGAG TCTGCATGAGTGCTGTGTGCTATAGCATCACTGGAAGC	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	92389	C C	CGGGTGGG others(455): Show CGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGT GGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTG GGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGG AGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGG TAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAG TAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGG ACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGC GCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18984.hp1 NA19012.hp1 HG00597.hp2 NA18984.hp1 NA19012.hp1	a0011 a0015 a0011 a0015	a0011c0021 a0015c0022 a0011c0021 a0015c0022	a0011c0021t0057 a0015c0022t0011 a0011c0021t0057 a0015c0022t0011	a0011c0021t0057g0197 a0015c0022t0011g0195 a0015c0022t0011g0196 a0011c0021t0057g0197 a0015c0022t0011g0195 a0015c0022t0011g0196	3	210	0.0143	462	c.45+ others(475): Show c.45+151_45+152insGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAG GGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGC CGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGG GGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTG GGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166113	C C	CTGATGGG others(455): Show CTGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGATGGGGCGGAGCTCACACTAATGCTCTGACGGG GTGGAGCTCACACTAATGCTGTGACAGGGGGCGGAGCTCACACAGTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAATGCTCTGACGGGGCGGAGCTCACAGTAATGCTCTGACGGGGCGGGG CTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTAATGCTGTGA CGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGGGCTCACACTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCA CACAGTAATGCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0044 a0010c0023t0044	a0010c0023t0044g0187 a0010c0023t0044g0187	1	210	0.0048	462	c.347 others(481): Show c.3476+2568_3476+2569insTGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCT CACACTAATGCTCTGACGGGGTGGAGCTCACACTAATGCTGTGACAGGGG GCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACAGT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAG CTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGATG GGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT GTGACAGGGGTCGGAGCTCACACAGTAATGCTGTGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLG_chr15_89311320_89339824	89325223	A A	AGAGTGAG others(455): Show AGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	398	0.0025	462	c.194 others(479): Show c.1949+226_1949+227insACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCTCTCTCACTCTCTCACTCACTCACTCTCTCAC TCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTC TCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PROZ_chr13_113153648_113177386	113161883	T T	TCCCCCCA others(455): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	2	378	0.0053	462	c.259 others(477): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCGCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161883	T T	TCCCCCCA others(455): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	378	0.0027	462	c.259 others(477): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCGCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161930	C C	CCATCCTC others(455): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	378	0.0027	462	c.259 others(477): Show c.259+993_259+994insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162009	T T	TCCCCCCA others(455): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	378	0.0027	462	c.260 others(477): Show c.260-998_260-997insCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCG TCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCGCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162092	C C	CTCCTCAC others(455): Show CTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGCTCCC CGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0149 a0002c0003t0001g0149	1	378	0.0027	462	c.260 others(477): Show c.260-914_260-913insTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGCTCCCCGTCCCTGCCACGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162201	G G	GTCCCCGT others(455): Show GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCC CACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCT CCTCCTGCTCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	378	0.0027	462	c.260 others(477): Show c.260-792_260-791insCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGCTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162687	C C	CATCCTCC others(455): Show CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCC CACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGC TCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCT GCCACCTCCCCAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0210 a0001c0011t0002g0210	1	378	0.0027	462	c.260 others(477): Show c.260-246_260-245insCGCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCATATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PXDN_chr2_1626887_1749515	1720263	G G	GAGAGGGA others(455): Show GAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGG GAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGA GAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGA GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGAGATGCAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0278 a0001c0002t0003g0278	1	322	0.0031	462	c.200 others(481): Show c.200+23992_200+23993insGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT TCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCAT CCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCC CTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132692495	T T	TTGCCAGT others(455): Show TTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCC TTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCC AGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTA GTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAA GTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTA GAGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGC TCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGTCAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTAG TTAGTGAGCGCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	350	0.0029	462	c.236 others(479): Show c.236+2120_236+2121insGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTT AGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAG TGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAG CGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGAGCCCTTGCCAGTTAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCT TAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCA GTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTGAGCGCCCTTGCCAGTTAG TGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132692495	T T	TTGCCAGT others(455): Show TTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCC TTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCC AGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTA GTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAA GTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTA GCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGC TCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGTCAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTAG TTAGTGAGCGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00639.hp1 others(18): Show HG00280.hp1 HG00544.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG02027.hp2 HG03490.hp1 HG03492.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp1 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19082.hp1 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0040 a0001c0003t0003g0042 a0001c0003t0003g0043 others(14): Show a0001c0003t0003g0040 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0003t0003g0156 a0001c0003t0003g0158 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0008t0003g0095	21	350	0.0600	462	c.236 others(479): Show c.236+2120_236+2121insGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTT AGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAG TGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAG CGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCT TAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCA GTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTGAGCGCCCTTGCCAGTTAG TGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYM1_chr12_55896413_55932894	55905923	A A	ATATATAT others(455): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTAAT AGATATATATATTATTATATATATCTATTAGATATATATATTATTATATA TATCTATTAGATATATATATTATTATATATATCTATTAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTATTAGATA TATATATTATTATATATATCTATTAGATATATATATTATTATATATATCT AATAGATATATATAATAATATATATATCTATTAGATATATATATTATTAT ATATATCTATTAGATATATATATTATTATATATATCTATTAGATATATAT ATTATTATATATATCTAATAGATATATATATTATTATATATATCTATTAG ATATATATATTAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0059 a0001c0001t0004g0060 a0001c0001t0002g0059 a0001c0001t0004g0060	2	344	0.0058	462	c.38- others(477): Show c.38-2444_38-2443insATAATATATATATCTAATAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTAATAGAT ATATATAATAATATATATATCTAATAGATATATATAATAATATATATATC TAATAGATATATATATTATTATATATATCTATTAGATATATATAATAATA TATATATCTAATAGATATATATAATAATATATATATCTAATAGATATATA TAATAATATATATATCTATTAGATATATATAATAATATATATATCTAATA GATATATATAATAATATATATATCTAATAGATATATATAATAATATATAT ATCTAATAGATATATATAATAATATATATATCTATTAGATATATATAATA ATATATATATCTAATAGATATATATAATAATATATATATCTAATAGATAT ATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(455): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGC CACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCC ACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGG CTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATC GCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19057.hp2 HG02165.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0101 a0001c0001t0042 a0001c0001t0101	a0001c0001t0042g0332 a0001c0001t0101g0334 a0001c0001t0042g0332 a0001c0001t0101g0334	2	392	0.0051	462	c.329 others(479): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTG GGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234811	A A	AAGGCTGG others(455): Show AAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCC CCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGG GAGCAAGGCTGGTCTCCACGAGGCCTCCCAGCTCCACTGCGCCCGCCCCA GCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGG CCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGC TTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGC CCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCGAGGCTGGTCTCCAC GAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCC CAGCTTGGGAGCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0221 a0001c0001t0007g0221	1	392	0.0026	462	c.329 others(479): Show c.329-7938_329-7937insCGCTCCCAAGCTGGGGTGTGGCGCGATG AGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTC GCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAG CTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGC GATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAG CCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGT GGAGCTGGGAGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTG GCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGA CCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCG CAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCT	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	467724	C C	CTCAGGGA others(455): Show CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0085 a0001c0001t0042g0085	1	295	0.0034	462	c.809 others(479): Show c.809-3556_809-3555insTGGGACGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(455): Show CCTCCCACACCATATACCCCTCCCACACCATACACTCCTCCCATGCCTCC ATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACAC CCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCCC TCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCCC ACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACACC CCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCGC TCCCATGCCATACACCCCTCCCACGCCTCCCACGCCATACAACCCTCCCA TGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACCC CTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCTC CCACACCATACAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	448	0.0022	462	c.449 others(477): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGC GTGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAG GGGTTTTATGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCA CGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGGG AGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGG GGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGAGGCATGGGAGGAGT GTATGGTGTGGGAGGGGTATATGGTGTGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831036	T T	TCCCTCCC others(455): Show TCCCTCCCCTTCCCTCCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTC CCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTT CCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTC CTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTAC ACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTAC ACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCC CTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTC CCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCC CTCCCTTTCCCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0123 a0002c0015t0123	a0002c0015t0123g0133 a0002c0015t0123g0133	1	218	0.0046	462	c.80+ others(479): Show c.80+30495_80+30496insTCCCTCCCCTTTCCCTCCCCTCCTTCCC CTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCC CTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCC TTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCT TCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCT CCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCT CCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCT TCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCC TCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(455): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGC TAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20805.hp2 HG03491.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0026 a0001c0001t0001g0027	2	304	0.0066	462	c.66+ others(477): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF213_chr17_80255852_80403794	80315598	T T	TGATGGTG others(455): Show TGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTG ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGGGATGGTGGTGAT GGAGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGAGGTGG TGGAGGTACTGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTGGTG GAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGAAGGTGATGGTGGA GGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTTGTGGTGG AGGTGGTGGTGGAGGTGATGGTGGTGATGGTGATGGTTGTGGAGCTGGTG GTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGGGAT GGTGGTGATGGAGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGG TGGAGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02615.hp1 HG02717.hp2	a0064 a0070 a0064 a0070	a0064c0147 a0070c0104 a0064c0147 a0070c0104	a0064c0147t0035 a0070c0104t0035 a0064c0147t0035 a0070c0104t0035	a0064c0147t0035g0174 a0070c0104t0035g0018 a0064c0147t0035g0174 a0070c0104t0035g0018	2	292	0.0069	462	c.281 others(481): Show c.2812-1589_2812-1588insATGGTGGAGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGTGAAGGGGATGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGACAGTG GTGATGCTGGTGGTGGAGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGT GGAGGTGATGGTGGAGGTGGTGGAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTTGTGGTGGAGGTGGTGGTGGAGGTGATGGTGGTGAT GGTGATGGTTGTGGAGCTGGTGGTGGAGGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGAAGGGGATGGTGGTGATGGAGGTGGTGGTGGTGGAG GTGACAGTGGTGATGCTGGTGGTGGAGGTGGTGGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(455): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	308	0.0033	462	c.-75 others(481): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SART1_chr11_65956734_65985137	65970966	A A	AGCTGCTG others(455): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTAGGATT CATGAGGTGCTGAGGAGGGGGGTGGTGGGATTCAGGAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGTAGGCGGGTGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0161 a0001c0021t0002g0161	1	384	0.0026	462	c.157 others(481): Show c.1572+3149_1572+3150insCTGAGGAGGGGGATGGTGGGATTCAG GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTAGGATTCATGAGGTGCTGAGGAGGGGGGTGGTGGGAT TCAGGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGTAGGCGGGT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971210	T T	TGAGGAGG others(455): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATG GTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0230	1	384	0.0026	462	c.157 others(481): Show c.1572+3390_1572+3391insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCGTGTCT others(455): Show CCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	462	c.166 others(479): Show c.1662+757_1662+758insGTGTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(455): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	290	0.0035	462	c.166 others(479): Show c.1663-933_1663-932insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP7_chr3_101319205_101518212	101439806	C C	CGTCCGGG others(455): Show CGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGG GGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCC AGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0050 a0002c0002t0003g0050	1	370	0.0027	462	c.284 others(481): Show c.284+19148_284+19149insAGGGCGGCTGGCTGGGCGGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGAC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(455): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGA GGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0069 a0002c0001t0069	a0002c0001t0069g0045 a0002c0001t0069g0045	1	316	0.0032	462	c.257 others(481): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACC CCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCAC CCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCC TGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(455): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCAC CTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	160	0.0063	462	c.688 others(479): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCAC CTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(455): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATACATTAATATAAATATA TTATATATATTATACATAAATATAAATATATTATATATATTATACATAAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAAATATAAATATATTATTATATAAATATAAATATAT TATATATATTATATATAATATATAAATATATTATATATAATATATATAAT ATAAATATATTATATATAATATATATAATATAAATATATTATATATAATA TATATAATATATTTATATTATATATATTATATATAATATAAATATATTAT ATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	346	0.0029	462	c.-70 others(479): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATAAATATATTATATATATTATATATAATAT ATTTATATTATATATATTATATATAATATATTTATATTATATATATTATA TATAATATATTTATATATTATATATAATATATATAATATATTTATATTTA TATAATAATATATTTATATTTATATATAATATATATAATATATTTATATT ATATATAATATATATAATATATTTATATTATATATAATATATATAATATA TTTATATTATATATAATATATATAATATATTTATATTTATGTATAATATA TATAATATATTTATATTTATGTATAATATATATAATATATTTATATTAAT GTATAATATATATAATATATTTATATTATATATAATATATATAATATATT TATATTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(455): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATTAT ATATATTATGTATAATATATATTATATATTATATATATATTATATATATT ATGTATAATATATATTATATATTATATATATATTATATATATTATGTATA ATATATATTATATATTATATATATATTATATATATTATGTATAATATATA TTATATATTATATATATATTATATATATTATGTATAATATATATTATATA TTATATATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0191 a0001c0001t0020g0191	1	310	0.0032	462	c.784 others(477): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATATATAATATATAATATATATTATACATAA TATATATAATATATAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SOX11_chr2_5687384_5706385	5706340	A A	AGGGAGGC others(455): Show AGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGAGGAGCAGGGAG ACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGG GTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAG GAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAG GGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGAC TGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGT GGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGAA GCTGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGG AGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTG GGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0000 a0001c0001t0108g0000	1	434	0.0023	462	c.12 others(475): Show c.12293_*12294insGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGG GGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGA GGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCA GGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGA CTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGG TGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGG AGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGG GAGACTGGGGTGGAGAAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGGCT GGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTG GAGGAGCAGGGAGGCTGGGGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4956		chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(455): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGG GGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGG GGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGA GGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGG GGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGG GGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGA GGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0145 a0001c0026t0002g0145	1	251	0.0040	462	c.34 others(471): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCCT TCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(455): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGA GGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	251	0.0040	462	c.34 others(471): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTT CCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCC CGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCC TCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCC TCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCT TCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(455): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATAATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATTATATAT GATTATAAAATATAATTATATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02129.hp1 HG02074.hp2 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0062 a0001c0002t0002g0049 a0001c0002t0002g0062	2	268	0.0075	462	c.75 others(473): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATAATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(455): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	268	0.0037	462	c.75 others(473): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(455): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0236 a0001c0001t0012g0236	1	268	0.0037	462	c.75 others(473): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(455): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGAGGGGGAGGGA GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGG AGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0105 a0001c0004t0105	a0001c0004t0105g0272 a0001c0004t0105g0272	1	276	0.0036	462	c.-18 others(481): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCT CTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCT CTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCT CCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCT CCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(455): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGGGGGGGAGAGAGG GGGAGGGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGG AGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0015 a0001c0002t0005g0015	1	276	0.0036	462	c.-18 others(481): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC CCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCT CCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(455): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATCATACACA CCACACACACTCCACACATCATACACACCACACACACTCCACACATCGTA CACAAAACACACTCCACACATCATACACAAAACACACTCCACACATCATA CACACCACATACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACGTCATACACACACACACACTCCACACATCATACAC AATACACACTCCACACATCATACACAATACACACTCCACACATCATACAC ACACACTCCACACATCATACACAATACACACTCCACACATCATACACAAA ACACACTCCACACATCATACACACACACTCCACACATCATGCACAATACA CACACACTCCACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp2 others(54): Show HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00642.hp2 HG01099.hp2 HG01109.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01978.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03471.hp2 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0004t0003	a0001c0001t0001g0041 a0001c0001t0001g0094 a0001c0001t0001g0149 others(50): Show a0001c0001t0001g0041 a0001c0001t0001g0094 a0001c0001t0001g0149 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0194 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0003g0247 a0001c0001t0003g0254 a0001c0001t0003g0290 a0001c0001t0003g0331 a0001c0001t0006g0019 a0001c0001t0006g0358 a0003c0004t0003g0284	57	378	0.1508	462	c.819 others(479): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTGTGGTGTGTATGATGTGTG GAGTGTGTTTTATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(455): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATGATACACA CCACACACACTCCACACATCATACACACCACACACACTCCACACATCGTA CACAAAACACACTCCACACATCATACACAAAACACACTCCACACATCATA CACACCACATACACTCCACACATAATACACACACACTCCACACATCATAC ACACACACTCCACACGTCATACACACACACACACTCCACACATCATACAC AATACACACTCCACACATCATACACAATACACACTCCACACATCATACAC ACACACTCCACACATCATACACAATACACACTCCACACATCATACACAAA ACACACTCCACACATCATACACACACACTCCACACATCATGCACAATACA CACACACTCCACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02895.hp2 others(1): Show HG02622.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0179 others(1): Show a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0003g0163	4	378	0.0106	462	c.819 others(479): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATTATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTGTGGTGTGTATCATGTGTG GAGTGTGTTTTATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(455): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATGATACACA CCACACACACTCCACACATCATACACACCACACACACTCCACACATCGTA CACAAAACACACTCCACACATCATACACAAAACACACTCCACACATCATA CACACCACATACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACGTCATACACACACACACACTCCACACATCATACAC AATACACACTCCACACATCATACACAATACACACTCCACACATCATACAC ACACACTCCACACATCATACACAATACACACTCCACACATCATACACAAA ACACACTCCACACATCATACACACACACTCCACACATCATGCACAATACA CACACACTCCACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02451.hp2 others(15): Show HG00642.hp1 HG01884.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 others(14): Show a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0313 a0001c0001t0003g0011 a0001c0001t0003g0166 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0007g0168	18	378	0.0476	462	c.819 others(479): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTGTGGTGTGTATCATGTGTG GAGTGTGTTTTATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(455): Show AGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0001 a0010c0037t0001	a0010c0037t0001g0205 a0010c0037t0001g0205	1	444	0.0023	462	c.227 others(481): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(455): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	444	0.0023	462	c.227 others(481): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(455): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0005 a0020c0031t0005	a0020c0031t0005g0301 a0020c0031t0005g0301	1	444	0.0023	462	c.227 others(481): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(455): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	444	0.0023	462	c.227 others(481): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar

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