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
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(381): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAATGGGAGGAAGGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGA AGCGGGAGGAAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAA GCGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGAAG CGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGGG GGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGG AGGAAGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAG GAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02615.hp2 others(6): Show HG01167.hp2 HG01169.hp2 HG02615.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0037 others(6): Show a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224	9	81	0.1111	388	c.207 others(405): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCCCTTCCTCCCCCTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCC CCTTCCTCCCGCTTCCCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCC CTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCCC TTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCCCT TCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCATTTCCTCCCACTT CCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(381): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGAA GGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGAAG CGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGGG GGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGG AGGAAGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAG GAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02572.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0006 a0002c0003t0003 a0001c0002t0001 a0001c0002t0006 a0002c0003t0003	a0001c0002t0001g0079 a0001c0002t0006g0010 a0002c0003t0003g0035 others(1): Show a0001c0002t0001g0079 a0001c0002t0006g0010 a0002c0003t0003g0035 a0002c0003t0003g0036	4	76	0.0526	388	c.207 others(405): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCCCTTCCTCCCCCTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCC CCTTCCTCCCGCTTCCCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCC CTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCC TTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCT TCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCACTT CCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALN1_chr7_71774491_72417338	72209198	C C	CTCCTTCC others(381): Show CTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC TTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	135	0.0074	388	c.244 others(407): Show c.244+69487_244+69488insAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(381): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG03704.hp1 HG01099.hp1 HG01168.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0189 a0001c0001t0001g0215 a0001c0001t0001g0216	3	14	0.2143	388	c.-45 others(409): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(381): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	8	0.1250	388	c.69 others(399): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(381): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC CCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	8	0.1250	388	c.69 others(399): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHM_chrX_85856180_86052558	85911175	G G	GTGTGTAT others(381): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATGAATATATATATATGAATATATATATATGAATATATAT ATATGAATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18953.hp1 HG02056.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0052 a0001c0002t0002g0041 a0001c0002t0002g0052	2	233	0.0086	388	c.124 others(403): Show c.1244+85_1244+86insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATATTCATATATA TATTCATATATATATATTCATATATATATATTCATATATATATATTCATA TATATATTCATATATATATATTCATATATATATATTCATATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATATA TATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(381): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGA AGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGAAGGGAAGGGGAGGGAAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp2 HG02145.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0099 a0001c0002t0001g0101	2	190	0.0105	388	c.637 others(403): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTCCCCTTCCC CTCCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTC CCTTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCT TCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATC CCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCC CCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCC CCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(381): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGG AGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGAAGGGAAGGGGAGGGAAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	189	0.0053	388	c.637 others(403): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTCCCCTTCCC CTCCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTC CCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCT TCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATC CCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCC CCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCC CCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586424	G G	GAGGGGAA others(381): Show GAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGG AGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGAC GGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAG GGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGG AGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGG AGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGAGGGGAAGGGGAGGAGGGGGGAGGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	200	0.0050	388	c.637 others(403): Show c.637+120_637+121insTGCCCTCCCCCTCCCCCCTCCTCCCCTTCC CCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTC CCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCT TCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTC CCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTC CCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCC CCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54134108	C C	CTCCACCT others(381): Show CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	167	0.0060	388	c.-39 others(399): Show c.-3936_-3935insTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCT GTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3653		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(381): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATGTA AATATATATATAAATATATATAAATATATAAATATATATATAAATATATA AATATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAA TATATAAATATATATAAATATATATATAAATATATATAAATATATAAATA TATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATA TATAGATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01978.hp2 HG02258.hp1 others(15): Show HG00597.hp1 HG01978.hp2 HG02258.hp1 HG03017.hp1 HG03098.hp1 HG03491.hp2 HG04228.hp2 NA18522.hp2 NA18941.hp2 NA18952.hp2 NA18965.hp2 NA18975.hp1 NA19003.hp2 NA19004.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018	a0001c0001t0003g0064 a0001c0001t0005g0134 a0001c0001t0005g0155 others(15): Show a0001c0001t0003g0064 a0001c0001t0005g0134 a0001c0001t0005g0155 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0177 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0257 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0009g0031 a0001c0001t0009g0034 a0001c0001t0009g0040 a0001c0001t0018g0032	18	137	0.1314	388	c.181 others(407): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTACATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATTTATATAT ATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(381): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA TAAATATATATAAATATGTAAATATATATATAAATATATATAAATATGTA AATATATATATAAATATATATAAATATATAAATATATATATAAATATATA AATATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAA TATATAAATATATATAAATATATATATAAATATATATAAATATATAAATA TATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATA TATAGATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	120	0.0083	388	c.181 others(407): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTACATATTTATATATATTTATATATATATTTACATAT TTATATATATTTATATATATATTTATATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATTTATATAT ATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGC others(381): Show AAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0002 a0002c0039t0002	a0002c0039t0002g0300 a0002c0039t0002g0300	1	294	0.0034	388	c.85- others(405): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGC others(381): Show AAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0052 a0001c0013t0001g0052	1	294	0.0034	388	c.85- others(405): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970441	T T	TGGGGTGA others(381): Show TGGGGTGAGTGGGGGCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGGG TCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTCTGTGGGTGAGTG GGGTCTGTGGTTGACTGGGTGCTGTGGGGTGAGTGGGGTCTGTAGGTGAG TGGGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGGGTCTGTGGGGTA AGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGT TGACTGGGGTCTGTGGGGTGAGTGGAATCTGTGGGTGAGTGGGGTCTGTG GGGTAAGCGGGGACTGTAAGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCT GTGGAGTGAGTGGGGTCTGTGGAGTGTGTGGGGTCTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 NA19043.hp2 HG02965.hp1 HG03139.hp2 NA19043.hp2	a0026 a0058 a0061 a0026 a0058 a0061	a0026c0084 a0058c0099 a0061c0118 a0026c0084 a0058c0099 a0061c0118	a0026c0084t0012 a0058c0099t0002 a0061c0118t0002 a0026c0084t0012 a0058c0099t0002 a0061c0118t0002	a0026c0084t0012g0178 a0058c0099t0002g0042 a0061c0118t0002g0186 a0026c0084t0012g0178 a0058c0099t0002g0042 a0061c0118t0002g0186	3	323	0.0093	388	c.393 others(405): Show c.3936+180_3936+181insCACAGACCCCACACACTCCACAGACCCC ACTCACTCCACAGACCCCACTCACCCACAGACCCCACTCACCTTACAGTC CCCGCTTACCCCACAGACCCCACTCACCCACAGATTCCACTCACCCCACA GACCCCAGTCAACCACAGACCCCACTCACCCACAGACCCCACTCACCCCA CAGCCCCCGCTTACCCCACAGACCCCACTCAGCCACAGAACACACTCACC CACAGACCCCACTCACCTACAGACCCCACTCACCCCACAGCACCCAGTCA ACCACAGACCCCACTCACCCACAGACCCCACTCACCTTACAGCCCCCACT CACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGCCCC CACTCACCCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(381): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	21	0.0476	388	c.510 others(407): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(381): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	21	0.0476	388	c.510 others(407): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CR1L_chr1_207640133_207728703	207686122	C C	CCCTCCCT others(381): Show CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCC CTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC ATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTCTCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0029 a0029	a0029c0030 a0029c0030	a0029c0030t0001 a0029c0030t0001	a0029c0030t0001g0118 a0029c0030t0001g0118	1	185	0.0054	388	c.463 others(405): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCC CTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTCTCTTCCTTCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCC CTCCCTTCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATACGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGTATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0006 a0007c0004t0001g0006	1	229	0.0044	388	c.19 others(399): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTACATA TATGTGTGTATATGTGTGTGTATATACACATATATGTATATACACACACA TATACACACATATATGTACACATATATATGTGTATATACATATACACACA TATATGTACACATATATGTGTGTATATACGTATATACACATATATGTACA CATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGCATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02148.hp2 HG02273.hp1 others(1): Show HG01978.hp2 HG02148.hp2 HG02273.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	232	0.0172	388	c.19 others(399): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATGCACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTACATA TATGTGTGTATATGTGTGTGTATATACACATATATGTATATACACACACA TATACACACATATATGTACACATATATATGTGTATATACATATACACACA TATATGTACACATATATGTGTGTATATACATATATACACATATATGTACA CATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGTATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01169.hp2 others(11): Show HG00099.hp1 HG00741.hp2 HG01169.hp2 HG01516.hp2 HG02818.hp2 HG03017.hp1 HG03669.hp1 HG03688.hp1 NA18612.hp1 NA18964.hp2 NA18979.hp2 NA19003.hp1 NA19070.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0001 a0003c0008t0001 a0001c0001t0001 a0001c0006t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0006t0001g0008 a0003c0008t0001g0011 a0001c0001t0001g0001 a0001c0006t0001g0008 a0003c0008t0001g0011	14	242	0.0579	388	c.19 others(399): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTACATA TATGTGTGTATATGTGTGTGTATATACACATATATGTATATACACACACA TATACACACATATATGTACACATATATATGTGTATATACATATACACACA TATATGTACACATATATGTGTGTATATACATATATACACATATATGTACA CATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGTATATATGTGTGTGTATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	229	0.0044	388	c.19 others(399): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATACACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTACATA TATGTGTGTATATGTGTGTGTATATACACATATATGTATATACACACACA TATACACACATATATGTACACATATATATGTGTATATACATATACACACA TATATGTACACATATATGTGTGTATATACATATATACACATATATGTACA CATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(381): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA CGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTGTATATGTGTGTATATATACATATATG TGTATATACGTATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	388	c.19 others(399): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACGTATATACACATATATGTACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(381): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTGTATATGTGTGTATATATACATATATG TGTATATACGTATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp1 others(11): Show HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01261.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02145.hp1 NA19057.hp2 NA19058.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	14	115	0.1217	388	c.19 others(399): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATA others(381): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACATATATACACATATATGTACACA TATATATGTGTATATACATATATACACATATATGTACACATATATATGTG TATATACATATATACACATATATGTACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA19068.hp1 NA18971.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	196	0.0102	388	c.19 others(399): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTATATATGTATATACACAT ATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTATATATGTATATACACATAT ATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATACGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGTATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	236	0.0042	388	c.19 others(399): Show c.1955_*1956insTATGTGTACATATATGTGTATATACGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACATATATATG TGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATA CACACACATATACACACATATATGTACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACGTATATACACATATATGTACACATATGTGTGTATATATGTGTGTA TATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATA TATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGCATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG02148.hp2 others(2): Show HG01361.hp1 HG01978.hp1 HG02148.hp2 HG02273.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	240	0.0208	388	c.19 others(399): Show c.1955_*1956insTATGTGTACATATATGTGTATATATGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACATATATATG TGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATA CACACACATATACACACATATATGTACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACGTATATACACATATATGTACACATATGTGTGCATATATGTGTGTA TATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATA TATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGTATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01516.hp2 others(11): Show HG00099.hp1 HG00741.hp2 HG01516.hp2 HG02818.hp2 HG03017.hp1 HG03669.hp2 HG03688.hp1 NA18612.hp1 NA18941.hp1 NA18961.hp1 NA18964.hp2 NA19003.hp1 NA19070.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	14	249	0.0562	388	c.19 others(399): Show c.1955_*1956insTATGTGTACATATATGTGTATATATGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACATATATATG TGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATA CACACACATATACACACATATATGTACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACGTATATACACATATATGTACACATATGTGTGTATATATGTGTGTA TATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATA TATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(381): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACGTATATACAC ATATATGTACACATATGTGTGTATATATGTGTGTGTATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	236	0.0042	388	c.19 others(399): Show c.1955_*1956insTATGTGTACATATATGTGTATATATGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACATATATATG TGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATA CACACACATATACACACATATATGTACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACGTATATACACATATATGTACACATATGTGTGTATATATGTGTGTG TATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATA TATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(381): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA CGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTGTATATGTGTGTATATATACATATATG TGTATATACGTATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	118	0.0085	388	c.19 others(399): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAT ATATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGT ATATATACATATATGTGTATATACGTATATACACATGTGTATATACGTAT ATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(381): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTATATACACA TATATATGTGTACATATATGTGTGTATATGTGTGTATATATACATATATG TGTATATACGTATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp1 others(11): Show HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02145.hp1 HG03704.hp1 NA19057.hp1 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	14	131	0.1069	388	c.19 others(399): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAT ATATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGT ATATATACATATATGTGTATATACGTATATACACATGTGTATATACGTAT ATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATA others(381): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACATATATACACATATATGTACACA TATATATGTGTATATACATATATACACATATATGTACACATATATATGTG TATATACATATATACACATATATGTACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	199	0.0050	388	c.19 others(399): Show c.1992_*1993insATATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATGTACACATATATATGTGTATATACATATATAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATGT ACACATATATATGTGTATATACATATATACACATATATGTACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATGTACACATATATATGTGTATATATGTGTGTAT ATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATAC ACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(381): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0113 a0002c0002t0003g0113	1	197	0.0051	388	c.923 others(407): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCT CCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCAC TCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTC CCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCC TCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132135003	C C	CCCCGAGT others(381): Show CCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTC CTACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC CTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18973.hp2 NA18998.hp2 others(1): Show NA18964.hp2 NA18973.hp2 NA18998.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0068	4	284	0.0141	388	c.42 others(399): Show c.4268_*4269insAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGC GGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGTGGGCACCGTGGGCAC ACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGTGGG AGGAGGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCACCGT GGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGA GGTAGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGG GCACCGTGGGCACACTCGGGAGGTGGGAGGAGGGGCACCGTGGGCACACT CGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1590		chr12	TogoVar
DIDO1_chr20_62872743_62931505	62875230	C C	CCACCCCC others(381): Show CCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCAC CCCCACCCTCACCCTCACCCCCACCCCCACCCCCACCCCACCCCCACCCC CACCCTCACCCCCACCCCCACCCCACCCCCACCCCCACCCTCACCCCCAC CCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCG GCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0008	1	313	0.0032	388	c.40 others(399): Show c.4002_*4003insCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGA GGGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGAGGG TGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2512		chr20	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(381): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0161 a0001c0002t0006g0164 a0001c0002t0006g0161 a0001c0002t0006g0164	2	248	0.0081	388	c.162 others(405): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(381): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	161	0.0062	388	c.-10 others(407): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPP6_chr7_154047398_154899285	154062459	A A	ACTGGCTC others(381): Show ACTGGCTCTTAGGACCCCCATCGCAGAGGGGGGACGCACCCCCCGCGAGG CGGGGACTGAGAGCCAGACCCTCATCCCCCACCGGCTTAGGACCCACATC GTTGATCCTAAGATCCTTAGGACCCACCTGGAGGACTGCGGGTGTTAGGT GTCCAAGTAGAAAGTTCAAATCTTCTGACGGCAGGTACCTTACGTGGGAT TACTGAGAGCCAGTCCCTCTTCCCCCCCGGCTCTGAGGACCCCCATCGCA GGAGGGGGAGGCACCCCCCACGAGAGTGGCGACTGAGAGCTATCCCCTCT TCTGCCCCTGGCTGTTAGTACCCCCATCGCAGGGTGGGGGAGGCACCCCC CCGTGAGGCAGGGACTGAGAGCCAGTCCCTCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	13	0.0769	388	c.243 others(405): Show c.243+9421_243+9422insAGGGGGGACGCACCCCCCGCGAGGCGGG GACTGAGAGCCAGACCCTCATCCCCCACCGGCTTAGGACCCACATCGTTG ATCCTAAGATCCTTAGGACCCACCTGGAGGACTGCGGGTGTTAGGTGTCC AAGTAGAAAGTTCAAATCTTCTGACGGCAGGTACCTTACGTGGGATTACT GAGAGCCAGTCCCTCTTCCCCCCCGGCTCTGAGGACCCCCATCGCAGGAG GGGGAGGCACCCCCCACGAGAGTGGCGACTGAGAGCTATCCCCTCTTCTG CCCCTGGCTGTTAGTACCCCCATCGCAGGGTGGGGGAGGCACCCCCCCGT GAGGCAGGGACTGAGAGCCAGTCCCTCTTCCCCCCCTGGCTCTTAGGACC CCCATCGCAG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL2_chr8_26509031_26663175	26556212	C C	CTATATAT others(381): Show CTATATATATAGTATATATAGTATTTATATAATATATATACTATATATAT AGTATATATATACTATATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATACTATATATA TACTATATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTGTATATATATAG TATATATATATAGTGTATATATATAGTATATATATAGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0203 a0001c0001t0017g0203	1	90	0.0111	388	c.355 others(407): Show c.355-25749_355-25748insTAGTATATATAGTATTTATATAATAT ATATACTATATATATAGTATATATATACTATATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATACTATATATATACTATATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATATAT AGTATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYNLT2B_chr3_196286219_196323240	196317382	G G	GTGTGTGT others(381): Show GTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGTGTTGTGTGGTGTGTGTGT GTGTGTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTC TGGCCCGTGAGCCTGACATTTTTTTCAGTGTGTGTGTGTGTGTGTGTGTG TTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTAAAGTT AGTGATCTTACAAACCTGAGTACCCTCTGCTCTGGCCCGTGAGCCTGACA TTTTTTTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTGTGTG TAAAGTTAGTGATCTTACAAACCTAGCTGAGTACCCTCTGCTCTGGCCCG TGAGCCTGACATTTTTTTTCAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	323	0.0031	388	c.113 others(403): Show c.113+657_113+658insACACACACACACACACACTGAAAAAAAATG TCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTAAGATCA CTAACTTTACACACACACAACACACACACACACACACACACACACACACT GAAAAAAAATGTCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGGTTTGT AAGATCACTAACTTTACACACACACACACACACACACACACCACACACAC ACCACACAACACACACACACACACACACACACTGAAAAAAATGTCAGGCT CACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTT TACACACACACACACACACCACACAACACACACACACACCACACAACACA CACACACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(381): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTC ACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCATCCTCACCACCATCCCCATC CACACCCCCTACCACCATCTTCACCACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	106	0.0094	388	c.259 others(407): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGAAGATGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGCTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATG GGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(381): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0039 a0009c0013t0001g0039	1	36	0.0278	388	c.218 others(405): Show c.2184+997_2184+998insCGGGGTGGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCC AGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCG GCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCA TGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGA GGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCC CTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
FAM120B_chr6_170301758_170412067	170399739	T T	TTAGGAGT others(381): Show TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAG TGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTA GAACTATGTCATAACTCTTAGTAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGG AGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGA AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACT CTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0128 a0011c0011t0001g0128	1	157	0.0064	388	c.269 others(407): Show c.2692+4160_2692+4161insTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACT CTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGTAGTGA GTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGT AGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTC ATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAG GAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAG AAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAAC TATGTCATAACC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10			chr6	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGAA others(381): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGTGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0210 a0001c0001t0006g0210	1	215	0.0047	388	c.157 others(403): Show c.1576+61_1576+62insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGTGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTG GGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(381): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0286 a0001c0003t0047g0286	1	215	0.0047	388	c.157 others(403): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586259	G G	GGGGAAAG others(381): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAATGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0105 a0002c0002t0013g0105	1	261	0.0038	388	c.157 others(403): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAG GCGGAGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(381): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTC CACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTC ACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCC TCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCC CTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTT CCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCC TTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	254	0.0039	388	c.972 others(403): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCC CCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTC CTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCC CCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCC TTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCC TCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCC CTCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
HAUS1_chr18_46099385_46133333	46112901	T T	TATATATA others(381): Show TATATATATAATATATATAATGTGTATATATATTCCATATTATATATATA ATATATATAATGTGTATATATATTCCATATTATATATAATATATATAATG TGTATATATATTCCATATTATATATAATATATATAATGTGTATATATATT CCATATTATATATAATATATATAATGTGTATATATATTCCATATTATATA TAATATATATAATGTGTATATATATTCCATATTATATATAATATATATAA TGTGTATATATATTCCATATTATATATAATATATATAATGTGTATATATA TTCCATATTACATATATATAATATATATAATGTGTATATATATTCCATAT TATATATATAATATATATAATGTGTATATATTCCATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	265	0.0038	388	c.206 others(405): Show c.206-5250_206-5249insATTCCATATTATATATATAATATATATA ATGTGTATATATATTCCATATTATATATAATATATATAATGTGTATATAT ATTCCATATTATATATAATATATATAATGTGTATATATATTCCATATTAT ATATAATATATATAATGTGTATATATATTCCATATTATATATAATATATA TAATGTGTATATATATTCCATATTATATATAATATATATAATGTGTATAT ATATTCCATATTATATATAATATATATAATGTGTATATATATTCCATATT ACATATATATAATATATATAATGTGTATATATATTCCATATTATATATAT AATATATATAATGTGTATATATTCCATATAATATATATAATATATATAAT GTGTATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(381): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	331	0.0030	388	c.666 others(405): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar

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