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
PIGQ_chr16_564968_589109	571108	T T	TGTCTGGC others(465): Show TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTG TGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp1 NA18971.hp2 HG02074.hp1 HG02109.hp1 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0018 a0002c0001t0001 a0002c0001t0018	a0002c0001t0001g0019 a0002c0001t0001g0171 a0002c0001t0018g0174 a0002c0001t0001g0019 a0002c0001t0001g0171 a0002c0001t0018g0174	3	408	0.0074	472	c.-10 others(489): Show c.-10+1012_-10+1013insGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTC others(465): Show TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCC TGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0191 a0002c0001t0001g0191	1	408	0.0025	472	c.-10 others(489): Show c.-10+1012_-10+1013insGTGTGTCTGGCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGC TCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCT AGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGG GGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAG CGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTG GCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(465): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0126 a0002c0001t0001g0126	1	408	0.0025	472	c.-10 others(489): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(465): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0149 a0002c0001t0001g0149	1	408	0.0025	472	c.-10 others(489): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLG_chr15_89311320_89339824	89325041	T T	TGAGTGAG others(465): Show TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	398	0.0025	472	c.194 others(489): Show c.1949+408_1949+409insTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCAC TCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325041	T T	TGAGTGAG others(465): Show TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	398	0.0025	472	c.194 others(489): Show c.1949+408_1949+409insTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCACTCTCTCTCACTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCAC TCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325041	T T	TGAGTGAG others(465): Show TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18983.hp1 NA18970.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	398	0.0050	472	c.194 others(489): Show c.1949+408_1949+409insTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCAC TCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRIMPOL_chr4_184644738_184699952	184676528	C C	CTTCTCCC others(465): Show CTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCC TCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTC CCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTC TCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCCTTCCCTTTCCTTAT CCCTTCCCTTCTCCCTTCCCCCATCCCTTCCCTTCCCCCTTCCCTTTCCT CTCCCTTCCCTCTCCCTTCCCTTCCCCCTTCCCTTTCCTTCTCCCTTCCC TTCTCCCTTCCCCCATCCCTTCCCTTCCCCCTTCCCTTTCCTCTCCCTTC CCTCTCCCTTCCCTTCCCCCTTCCCTTTCCTTATCCCTTCCCTTCTCCCT TCCCCCATCCCTTCCCTTCCCCCTTCCCTTTCCTCTCCCTTCCCTCTCCC TTCCCTTCCCCCTTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	328	0.0031	472	c.845 others(489): Show c.845-1704_845-1703insTTCTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCT TCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCCTTCCCTTTCCTTATCCCTTCCCTTCTCCCTTCCCCCATCCCTT CCCTTCCCCCTTCCCTTTCCTCTCCCTTCCCTCTCCCTTCCCTTCCCCCT TCCCTTTCCTTCTCCCTTCCCTTCTCCCTTCCCCCATCCCTTCCCTTCCC CCTTCCCTTTCCTCTCCCTTCCCTCTCCCTTCCCTTCCCCCTTCCCTTTC CTTATCCCTTCCCTTCTCCCTTCCCCCATCCCTTCCCTTCCCCCTTCCCT TTCCTCTCCCTTCCCTCTCCCTTCCCTTCCCCCTTCCCTTTCCT	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(465): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGC CAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTG TCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCCTCCGGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCC TCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAG CAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTG ACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCA GGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGC GTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	286	0.0035	472	c.335 others(491): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGG TGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	64011805	T T	TGGCTTCT others(465): Show TGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCT TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	294	0.0034	472	c.152 others(490): Show c.1524+603_1524+1074dupCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTG CTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT CTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGA CAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACG AGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGAT ACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGT AGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PXDN_chr2_1626887_1749515	1720119	C C	CAGAGAGA others(465): Show CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGG GAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGATGCAGAGAGAGA GAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGA GGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGGGAGGGAAGAATGCAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0023 a0001c0006 a0001c0023	a0001c0006t0004 a0001c0023t0004 a0001c0006t0004 a0001c0023t0004	a0001c0006t0004g0231 a0001c0023t0004g0230 a0001c0006t0004g0231 a0001c0023t0004g0230	2	322	0.0062	472	c.200 others(491): Show c.200+24136_200+24137insCTCTGCATTCTTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATTCTTCCCTCCCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCT CTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCT CCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCC CTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720178	A A	AGAGGGAG others(465): Show AGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGAT GCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGG ATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAG AGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGG ATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAG GGATGCAGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	322	0.0031	472	c.200 others(491): Show c.200+24077_200+24078insCCTCCCTCTCTCTCTCTGCATCCCTC CCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCC TCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTG CATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC TCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTC TCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTC CCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCC TCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTC TGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(465): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGC CCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCCCG GCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGG CGGCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCG GCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCCTCGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	40	0.0250	472	c.72+ others(483): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCG GCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCC CGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC GGCGGCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGG CGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPH3AL_chr17_207389_357807	288705	T T	TCTCTCTC others(465): Show TCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC CACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	133	0.0075	472	c.352 others(489): Show c.352-6852_352-6851insGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACG GTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGA CGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGT CTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAGAGAGGGAGTGAG GTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(465): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG GGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	133	0.0075	472	c.351 others(491): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCT CTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305030	G G	GGGGACAG others(465): Show GGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	133	0.0075	472	c.351 others(491): Show c.351+14389_351+14390insTCTCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1156892	C C	CCCACTCC others(465): Show CCCACTCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCC CTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAA CGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCACCCTCTGCA ATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCC AGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCC GCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCGCCACCCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0099 a0010c0019t0001g0099	1	203	0.0049	472	c.-12 others(491): Show c.-126-2491_-126-2490insCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCT CAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGG TGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGG TCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGG GGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGC AGAGGGTGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTC TCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGG TGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1156892	C C	CCCACTCC others(465): Show CCCACTCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCC CTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAA CGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGC AATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCC CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCGCCACCCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(15): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG01081.hp2 HG01255.hp2 HG02056.hp2 HG02129.hp2 HG02602.hp2 HG04184.hp1 NA18983.hp1 NA19005.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0001c0025 a0002c0003 a0003c0014 a0006c0024	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0025t0001 a0002c0003t0001 a0003c0014t0001 a0006c0024t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 others(15): Show a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0005t0001g0024 a0001c0005t0001g0051 a0001c0005t0001g0068 a0001c0005t0001g0104 a0001c0005t0001g0123 a0001c0007t0001g0105 a0001c0007t0001g0182 a0001c0025t0001g0102 a0002c0003t0001g0041 a0002c0003t0001g0052 a0002c0003t0001g0097 a0003c0014t0001g0002 a0003c0014t0001g0067 a0003c0014t0001g0098 a0006c0024t0001g0095	18	203	0.0887	472	c.-12 others(491): Show c.-126-2491_-126-2490insCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCT CAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGT GGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTC TCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGG TGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1156892	C C	CCCACTCC others(465): Show CCCACTCCTGAGAATGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCC CTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAA CGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGC AATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCC CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCGCCACTCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0181 a0001c0009t0001g0181	1	203	0.0049	472	c.-12 others(491): Show c.-126-2491_-126-2490insCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGAGTGGCGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCT CAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGT GGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTC TCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGG TGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCATTCTCAGGAGTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(465): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTC CTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTC ACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACT ATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACC CCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCC CCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0050 a0001c0003t0003g0050	1	280	0.0036	472	c.89- others(485): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(465): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCC CCACGCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCA CTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCC TCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCA CTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTA TCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCC CCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCC CCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0042 a0002c0002t0005g0042	1	280	0.0036	472	c.89- others(485): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGA GAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAG TAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGG GGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG GAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGG GTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGGGTT GAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLA2_chr20_36607318_36651196	36642171	A A	AAAAAAAA others(465): Show AAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGCTTGA GAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATTGGTG TCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGAGAT TACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACTTAAT CCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGAGTT CTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAAACC ACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTATTCG GGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATGGAG TTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAGCCC AGGCAAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0173 a0002c0002t0004g0173	1	360	0.0028	472	c.-43 others(487): Show c.-43-794_-43-793insGAGACAGCGTCTCACTCTTGCCTGGGCTGG AGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATC TCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAG CTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLC11A1_chr2_218377273_218401894	218377639	G G	GGTGATCC others(465): Show GGTGATCCACCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCTGGCCTTTAATTAGTTTTTAATTTTGATGAGGTTCAATTT ATCAAATTTTCCCTTTATGGATCATGGTCTTCATATCAAGTCTATGAAGT CTTTGTCTAGTCCTAGATCCTAAAGATTTTCTCCTAGGTTTTTTTTCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAG GATGGTCTCGATCTCCTGACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	472	c.-47 others(483): Show c.-4730_-4729insGTGATCCACCCGCGTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCTGGCCTTTAATTAGTTTTTAATTTT GATGAGGTTCAATTTATCAAATTTTCCCTTTATGGATCATGGTCTTCATA TCAAGTCTATGAAGTCTTTGTCTAGTCCTAGATCCTAAAGATTTTCTCCT AGGTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC	SLC11A1	ENSG00000018280.17	transcript	ENST00000233202.11	protein_coding		4633		chr2	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(465): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATACATAAATATAAATATATTATATATATTATACATAAAT ATAAATATATTATATATATTATACATAAATATAAATATATTATATATATT ATACATAAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAAATAT AAATATATTATATATATTATATATAAATATAAATATATTATATATTATAT AAATATAAATATATTATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTAATATATTATATATATTATATATAATATA AATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18982.hp2 NA18964.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0027 a0001c0001t0002g0028	2	346	0.0058	472	c.-70 others(489): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATAATATATTTATATTTATATA ATATATAATATATTTATATTTATATATAATATATATAATATATTTATATT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTTATGTATAATAT ATATAATATATTTATATTTATGTATAATATATATAATATATTTATATTTA TGTATAATATATATAATATATTTATATTTATGTATAATATATATAATATA TTTATATTATATATAATATATATAATATATTTATATTATATATAATATAT ATAATATATTTATATTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A1_chr1_8313114_8349165	8322280	A A	ATGGATGA others(465): Show ATGGATGAATGGATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGT GGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGG ATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGT GCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGC ATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGAT GGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGG GTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGT GGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGT GTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGT GGGTGGATGGATGGGTGGATGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	388	0.0026	472	c.-24 others(489): Show c.-24-2020_-24-2019insAATGGATGGATGGGCGGGTGGGTGGATG GATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGA TGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATG GATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGG TGAGTGGATGGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATG AGTGGGTGGATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGG TGGATGGATGGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTG GATGGATGCGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGA TGGATAGATGGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTG GATGGATGGGTAGGTGGGTGGATGGATGGGTGGATGAGTGGATG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141246484	A A	ATCAAGAT others(465): Show ATCAAGATGTGCAGGCCAAGGCAGCAACAGAGAGGGTCTCCCAGCAAGGT GGAGTCACACGTTTGCGTCAGGCGACATCCCCTCGATGCTGCCATATTCT ATTGGTTAACAGGAATTACTCAAGATGTGCAGGCCAAGGCAGCAACAGAG AGGGTCTCCCAGCAAGGTGGAGTCACACGTTTGCGTCAGGCGACATCCCC TCGATGCTGCCATATTCTATTGGTTAACAGGAATTACTCAAGATGTGCAG GCCAAGGCAGCAACAGAGAGGGTCTCCCAGCAAGGTGGAGTCACACGTTT GCGTCAGGCGACATCCCCTCGATGCTGCCATATTCTATTGGTTAACAGGA ATTACTCAAGATGTGCAGGCCAAGGCAGCAACAGAGAGAGTCTCCCAGCA AGGTGGAGTCACACGTTTGCGTCAGGCGACATCCCCTCGATGCTGCCATA TTCTATTGGTTAACAGGAATTAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0011 a0001c0017t0001g0011	1	188	0.0053	472	c.241 others(489): Show c.241+7504_241+7505insGTAATTCCTGTTAACCAATAGAATATGG CAGCATCGAGGGGATGTCGCCTGACGCAAACGTGTGACTCCACCTTGCTG GGAGACTCTCTCTGTTGCTGCCTTGGCCTGCACATCTTGAGTAATTCCTG TTAACCAATAGAATATGGCAGCATCGAGGGGATGTCGCCTGACGCAAACG TGTGACTCCACCTTGCTGGGAGACCCTCTCTGTTGCTGCCTTGGCCTGCA CATCTTGAGTAATTCCTGTTAACCAATAGAATATGGCAGCATCGAGGGGA TGTCGCCTGACGCAAACGTGTGACTCCACCTTGCTGGGAGACCCTCTCTG TTGCTGCCTTGGCCTGCACATCTTGAGTAATTCCTGTTAACCAATAGAAT ATGGCAGCATCGAGGGGATGTCGCCTGACGCAAACGTGTGACTCCACCTT GCTGGGAGACCCTCTCTGTTGCTGCCTTGGCCTGCACATCTTGA	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SMOC2_chr6_168436184_168672992	168596103	C C	CGTGAACA others(465): Show CGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAA CAGGTGACACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAG AGGAATGAACAGGTGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTG CTGCTGGAGAGGAATGAACAGGTGCCACGTGAACACGGCAGTGATGAGTT TCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGACACGTGAACACGGCAG TGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCACGTGA ACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGT GCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAA TGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCT GGAGAGGAATGAACAGGTGCCAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18973.hp2 NA19085.hp1 NA18950.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112	3	180	0.0167	472	c.638 others(489): Show c.638-2660_638-2659insACACGTGAACACGGCAGTGATGAGTTTC CTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCACGTGAACACGGCAGTG ATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCACGTGAAC ACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGA CACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATG AACAGGTGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGG AGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGG TGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(465): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATATTATATAAACATA TAGTTTATATATTATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	302	0.0033	472	c.12+ others(487): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTT TATATAATATATAAACATATAGTTTATATATTATATAAACATATAGTTTA TATATTATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827176	C C	CATATATT others(465): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT AGTTTATATAATATATAAACATATAGTTTATATATTATATAAACATATAG TTTATATAATATATAAACATATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATACATATATAT TATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	302	0.0033	472	c.12+ others(487): Show c.12+3880_12+3881insGTTTATATAATATATAAACATATAGTTTAT ATATTATATAAACATATAGTTTATATAATATATAAACATATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATACATATATATTATAGTTTATATAATATATACATATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7724733	G G	GTGGTGGT others(465): Show GTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATGGT GCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTA TGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG ATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATGGTG GTGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCGGTGATGAT GGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGG TGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATG GTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGAGGT GATGGTGGTAGTTATGGTGATGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19066.hp1 HG02056.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0083 a0002c0004t0014g0110 a0002c0004t0014g0083 a0002c0004t0014g0110	2	168	0.0119	472	c.261 others(489): Show c.2612-417_2612-416insGGTGATGGTGATGGTGGTGGTGTTGGTG ATGATGGTGGTGATGGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGA GGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGAGGATGG TGATGGTGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATGGTGGTG GTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGAT GGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGC TGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATG GTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35913457	T T	TGTGTGTG others(465): Show TGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGCTGTATGTGTGTAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	420	0.0024	472	c.27 others(483): Show c.2766_*2767insGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAA GCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGC TGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAA GCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1772		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35913511	T T	TATTTTTT others(465): Show TATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGCTGTATGTGTGTAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	420	0.0024	472	c.28 others(483): Show c.2820_*2821insATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTA TGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1826		chr9	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(465): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	112	0.0089	472	c.62+ others(487): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(465): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	330	0.0030	472	c.222 others(491): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71199804	G G	GTGTGTGT others(465): Show GTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTG CTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGTGGGGTGTGTGTG GGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATGTGGTGTGTGTGTAGT GTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTGTGGTGTGTGGGTGTG TGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGATGCATGTGTGGAGG GTGTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGAT GCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTGTG GTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGT GTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTG CTGTGTGTGTGCTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01123.hp1 others(21): Show HG00621.hp2 HG00642.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG03471.hp1 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0019 a0002c0005 a0003c0010 a0004c0014 a0006c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0035 a0001c0002t0040 a0001c0003t0002 a0001c0003t0009 a0001c0004t0044 a0001c0006t0012 a0001c0007t0015 a0001c0009t0013 a0001c0019t0003 a0002c0005t0033 a0003c0010t0027 a0004c0014t0038 a0006c0013t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 others(21): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0006g0080 a0001c0001t0010g0053 a0001c0001t0012g0054 a0001c0001t0013g0097 a0001c0001t0022g0056 a0001c0001t0039g0011 a0001c0002t0001g0090 a0001c0002t0002g0018 a0001c0002t0035g0017 a0001c0002t0040g0013 a0001c0003t0002g0079 a0001c0003t0009g0057 a0001c0004t0044g0029 a0001c0006t0012g0078 a0001c0007t0015g0027 a0001c0009t0013g0039 a0001c0019t0003g0093 a0002c0005t0033g0040 a0003c0010t0027g0088 a0004c0014t0038g0016 a0006c0013t0001g0038	24	116	0.2069	472	c.100 others(491): Show c.100-15223_100-15222insCTGTGTGTGTGTGATGCACGTGTGGG GTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTG TGTGGGGTGTGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATG TGGTGTGTGTGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTG TGGTGTGTGGGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTG ATGCATGTGTGGAGGGTGTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTG GTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATG TGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTG TAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTG GTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GACCCCTG others(465): Show GACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0038 a0001c0009t0001g0038	1	388	0.0026	472	c.23 others(483): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGG GACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2095		chr11	TogoVar
TMEM132C_chr12_128262170_128712911	128708580	C C	CACTCACC others(465): Show CACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCAGGAGGGCGT TCATTCATAGACTCACCATCATCCACACCAGTGCCCAAAGTCAGAGAGCA GGAGGGCCTTCATTCATAGACCCACCATCTTCCACACCAGCGTTCAGAGT CAGTGAGGAGAAGGGTGTTCATTCATAGATCCACCGTCATCCACACCGGT GCTCAAACTCAGCAAGCAGGAGGGCGTTCATTCATACACTCACCATCATC CACACCAGTGCTCAAAGTCAGCAAGCAGGAGGGCGTTCATTCATACACTC ACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCAGGAGGGCGTTCATT CATAGACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCAGGAGG GCGTTCATTCATACACTCACCATCATCCACACCAGTGCTCAAAGTCAGCA AGCAGGAGGGCGTTCATTCATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	170	0.0059	472	c.22 others(483): Show c.2285_*2286insACTCACCATCATCCACACCAGTGCTCAAAGTCAG CAAGCAGGAGGGCGTTCATTCATAGACTCACCATCATCCACACCAGTGCC CAAAGTCAGAGAGCAGGAGGGCCTTCATTCATAGACCCACCATCTTCCAC ACCAGCGTTCAGAGTCAGTGAGGAGAAGGGTGTTCATTCATAGATCCACC GTCATCCACACCGGTGCTCAAACTCAGCAAGCAGGAGGGCGTTCATTCAT ACACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCAGGAGGGCG TTCATTCATACACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGC AGGAGGGCGTTCATTCATAGACTCACCATCATCCACACCAGTGCTCAAAG TCAGCAAGCAGGAGGGCGTTCATTCATACACTCACCATCATCCACACCAG TGCTCAAAGTCAGCAAGCAGGAGGGCGTTCATTCATAG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding		670		chr12	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(465): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	250	0.0040	472	c.903 others(489): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTTCCT CCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCT TCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(465): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	250	0.0040	472	c.903 others(489): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(465): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGA AGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAA GGTGGGAGGGGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAG GAGGAAGGAAGGAGGGAGGGAGAAAGGAAGGAAGGAGGAAGGAAGGAAGG AGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAG AAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0159 a0001c0009t0003g0159	1	268	0.0037	472	c.30+ others(489): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGG AAAGAGGAAGGAAGGTGGGAGGGGGGAGGGAGGAAGGAGGAAGGAAGGAG GGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAG GAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGAAAGGAAGGAAGGAG GAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAG GGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TTLL8_chr22_50013575_50063298	50029363	C C	CCCCACAC others(465): Show CCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCATCCTGAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0193 a0004c0004t0002g0193	1	224	0.0045	472	c.225 others(491): Show c.2251+1066_2251+1067insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(465): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTA CTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAG TAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0177 a0006c0012t0003g0177	1	242	0.0041	472	c.106 others(491): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(465): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTA CTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAG TAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0003 a0018c0027t0003	a0018c0027t0003g0246 a0018c0027t0003g0246	1	370	0.0027	472	c.103 others(493): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGTAA GTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCA CTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATT ACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATT ACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917081	C C	CTCGGAGG others(465): Show CTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGTGGGATG GGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGACGGGGG TCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGACGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0178 a0002c0004t0002g0178	1	344	0.0029	472	c.218 others(487): Show c.2182+34_2182+35insCGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGACG GGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(465): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATATTTATGTAATATA TAATATTTATATATTATATTTATGTAATATATAATATTTATATATTATAT TTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0075 a0002c0017t0002g0075	1	204	0.0049	472	c.213 others(491): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATATATAAATATTATATATTACATAAATATATATAAATA TTATATATTACATAAATATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAAATATTATA TATTACATAAATATAATATATAATATATATTATATATTACATAAATATAA TATATAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(465): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAA TATTTATATATATTTATGTAATATATAATATTTATATATATTTATGTAAT ATATAATATTTATATATATTTATGTAATATATAATATTTATATATTATAT TTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18957.hp2 HG00597.hp1 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0002 a0002c0017t0005 a0002c0002t0002 a0002c0017t0005	a0002c0002t0002g0008 a0002c0017t0005g0086 a0002c0002t0002g0008 a0002c0017t0005g0086	2	204	0.0098	472	c.213 others(491): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATATATAAATATTATATATT ACATAAATATATATAAATATTATATATTACATAAATATATATAAATATTA TATATTACATAAATATAATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAAATATTATA TATTACATAAATATAATATATAATATATATTATATATTACATAAATATAA TATATAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196869	T T	TTATGTAA others(465): Show TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATA ATATTTATATATATTTATGTAATATATAATATTTATATATATTTATGTAA TATATAATATTTATATATATTTATGTAATATATAATATTTATATATTATA TTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATAT ATATTTATATATTATATTTATGTAATATATAATATATATTTATATATTAT ATTTATGTAATATATAATATATATTTATATATTATATGTATGTAATATAT AATATATATTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0131 a0002c0016t0002g0131	1	204	0.0049	472	c.213 others(491): Show c.2136+5861_2136+5862insCATATAATATATAAATATATATTATA TATTACATACATATAATATATAAATATATATTATATATTACATAAATATA ATATATAAATATATATTATATATTACATAAATATAATATATAAATATATA TTATATATTACATAAATATAATATATAAATATTATATATTACATAAATAT AATATATAAATATTATATATTACATAAATATATATAAATATTATATATTA CATAAATATATATAAATATTATATATTACATAAATATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAAATATTATATATTACATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(465): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	408	0.0025	472	c.53+ others(487): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(465): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	408	0.0025	472	c.53+ others(487): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(465): Show TATATATATTATATATATATATAATATATATATATTATATATATATATAT AATATATATATATTATATATATAATATATATATATTATATATATATATAA TATATATATATTATATATAATATATATATATTATATATATATTATATATA TTATATATATTATATATATATTATATATATATTATATATATATAATATAT ATAATATATATATAATATATATTATATATATAATATATATATATTATATA TATAATATATATATTTAATATATATATTATATATATAATATATATTATAT ATATAATATATATATTTAATATATATTATATATATAATATATATATTATA TATATAATATATATATAATATATATATTATATATATAATATATATATTAT ATATATATAATATATATATTTAATATATATATTATATATATAATATATAT TATATATATAATATATATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	330	0.0030	472	c.39 others(483): Show c.3902_*3903insTAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTAAATATATATATTATATATATATAATATATAT ATTATATATATAATATATATATTATATATATATTATATATATAATATATA TATTATATATATAATATATATTAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTAAATATATATATTATATATATAATATA TATATATTATATATATAATATATATTATATATATATTATATATATTATAT ATATATAATATATATATAATATATATATAATATATATAATATATATAATA TATATATAATATATATATATTATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATAATATATATATATTATATATATATA TATAATATATATATATTATATATATATATAATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar

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