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
ANXA2R_chr5_43034371_43045319	43043896	A A	ATATAATA others(351): Show ATATAATATATATAATATATTATATAATATATAATATATATAATATATTA TATAATATATAATATATATAATATATTATATAATATATAATATATATAAT ATATAATATATATAATATATTATATAATATATAATATATATAATATATTA TATAATATATAATATATATAATATATTATATAATATATAATATATATAAT ATATTATATAATATATAATATATATAATATATTATATAATATATAATATA TATAATATATTATATAATATATAATATATATAATATATTATATAATATAT AATATATATAATATATTATATAATATATAATATATATAATATATTATATA ATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	358	c.-38 others(369): Show c.-3851_-3850insATTATATATTATATAATATATTATATATATTATA TATTATATAATATATTATATATATTATATATTATATAATATATTATATAT ATTATATATTATATAATATATTATATATATTATATATTATATAATATATT ATATATATTATATATTATATAATATATTATATATATTATATATTATATAA TATATTATATATATTATATATTATATAATATATTATATATATTATATATT ATATAATATATTATATATATTATATATTATATATATTATATATTATATAA TATATTATATATATTATATATTATATAATATATTATATATATTATATATT ATATAATATATTATATATATTATA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3578		chr5	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(351): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGT TGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTAC CTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGAC GGGGTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0185 a0005c0007t0011g0185	1	392	0.0026	358	c.703 others(373): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGTTGC CCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTACCTC CCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGG GTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(351): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACATATTTATACATA TATATGTATAAATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACATACATATTTATACATATATATGTATAAATACATACATATTTA TACATATATGTATAAATACATACATATTTATACATATATGTATAAATACA TATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0214 a0001c0001t0108g0214	1	256	0.0039	358	c.39 others(367): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACATACATAT TTATACATATATGTATACATACATATTTATACATATATATGTATAAATAC ATATTTATACATATATATGTATAAATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACATACATATTTATACATATATATGTATAAAT ACATACATATTTATACATATATGTATAAATACATACATATTTATACATAT ATGTATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CCGTGACC others(351): Show CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTT CCCACCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGAC CACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG ACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACAC TAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTT CCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	246	0.0041	358	c.-21 others(369): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(351): Show CGTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACT GGCGGCGACCATTTCCCACCCCGTGACCACGCACTGGCGGCGACCATTTC CCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCCCCGTGACC ACGCACTGGCGGCGACCATTTCCCACCCCCGTGACCACACACTGGCGGCG ACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACAC TAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTT CCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	246	0.0041	358	c.-21 others(369): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGG TGGGAAATGGTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGC CGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGCGTGGT CACGGGGTGGGAAATGGTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAA TGGTCGCCGCCAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCA others(351): Show CAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATA GCCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGAT AGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGA TAGCCAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGG ATAGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAG GATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGA TGGGTAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0073 a0001c0006t0001g0073	1	363	0.0028	358	c.352 others(377): Show c.3521-1637_3521-1636insATCCTGGAAGGAGGTGCACTCTCACT GTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCAC TGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGTGCACTCTCA CTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGTGCACTCTC ACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGAAAGGAGGTGCACTCT CACTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGTGCACTC TCACTGTTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACT CTCACTGTTTTTCTGGATGGGTAGCTAGGTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(351): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCCACCCACCTCCCCCCACCC CCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCCCACCTCCCCCCACCCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	254	0.0039	358	c.39+ others(375): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCT CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCCCACCTCCCC CCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79358300	C C	CCTGTGTG others(351): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCGG TGTGAGGGGTGTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTG AGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTG GAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGG TGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCC TGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTG GGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTC TGGAGGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03540.hp1 HG01081.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0100 a0001c0001t0001g0118	2	298	0.0067	358	c.290 others(377): Show c.2904-1011_2904-1010insACCCGGTGTGAGGGGTGTCCTGGGTC TGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(351): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT ATATATATC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0257 a0002c0001t0001g0257	1	356	0.0028	358	c.249 others(377): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(351): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATATATATC	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18971.hp1 HG03942.hp2 NA18971.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0219 a0002c0001t0001g0229 a0002c0001t0001g0219 a0002c0001t0001g0229	2	356	0.0056	358	c.249 others(377): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(351): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT ATATATATC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0321 a0002c0020t0001g0321	1	356	0.0028	358	c.249 others(377): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTGCCC others(351): Show TCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCT TCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCT GCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCC CTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCC TTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTT CCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCC CCCTTCCCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	420	0.0024	358	c.910 others(373): Show c.910-574_910-573insGCCCCCTTCCCCCTTGCCCCCTTCTCCCCT TCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCT TCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTC CTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTC CTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTC CTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCT TCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCC CCCTTCCCCTTTTCCCCCCTTCCCCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(351): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02015.hp2 NA18951.hp2 HG01496.hp2 HG02015.hp2 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0008 a0003c0003t0001 a0001c0001t0001 a0001c0001t0008 a0003c0003t0001	a0001c0001t0001g0201 a0001c0001t0008g0233 a0003c0003t0001g0205 a0001c0001t0001g0201 a0001c0001t0008g0233 a0003c0003t0001g0205	3	268	0.0112	358	c.328 others(371): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BICD1_chr12_32101847_32388633	32252110	A A	ATATTATA others(351): Show ATATTATATATTTATAATAAATATATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATAATAAATATTATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAATATTATATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATTATATATTATATATTATATTTATAAT AAATATTATATATTATATATTATATTTATAATAAATATTATATATTATAT ATTATATTTATAATAAATATTCTATATTATATATTATATTTATAATAAAT ATTATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0090 a0001c0001t0036g0090	1	290	0.0035	358	c.426 others(377): Show c.426+35654_426+35655insTATATATTTATAATAAATATATATTA TATATTTATAATAAATATATATTATATATTTATTATAAATATATAATATA TATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTA TATATTATATATTATATTTATAATAAATATTATATATTATATATTATATT TATAATAAATATTATATATTATATATTATATTTATAATAAATATTATATA TTATATATTATATTTATAATAAATATTATATATTATATATTATATTTATA ATAAATATTATATATTATATATTATATTTATAATAAATATTCTATATTAT ATATTATATTTATAATAAATATTATATATTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BTNL9_chr5_181035266_181066521	181046157	T T	TCCAACAC others(351): Show TCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCAT CTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCT CCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCT CTCCAGCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03669.hp2 HG03927.hp2 others(3): Show HG00438.hp1 HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18980.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0153 a0001c0007t0007g0177 a0001c0007t0007g0179 others(3): Show a0001c0007t0007g0153 a0001c0007t0007g0177 a0001c0007t0007g0179 a0001c0007t0007g0181 a0001c0007t0007g0182 a0001c0007t0007g0183	6	390	0.0154	358	c.109 others(373): Show c.109+618_109+619insTCCAACACCTCCTCCACCATCTCCCCAGCC CCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCT CCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCC TCCACCATCTCTCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCC CAACACCTCCTCCACCATCTCCCCAGCC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(351): Show TGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGC CCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCCT GTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGG GGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGG GACGGGGCCCTGCCCTGAGGGGTGTGGGGGGGGACGGGGTCCTGCCCCGA GGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0067 a0001c0004t0004 a0001c0002t0067 a0001c0004t0004	a0001c0002t0067g0128 a0001c0004t0004g0004 a0001c0002t0067g0128 a0001c0004t0004g0004	2	322	0.0062	358	c.30 others(369): Show c.3065_*3066insTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCC ACACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGACAGG ACCCCGTCCCCCCCACACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACA CCCCTCGGGGCAGGACCCCGTCCCCCCCACACCCCTCGGGGCAGGGCCCC GTCCCCCCCTCACACCCCTCGGGACAGGACCCCGTCCCCCCCTCACACCC CTCGGGACAGGACCCCGTCCCCCCCTCACACCCCTCGGGACAGGGCCCCG TCCCCCCCACACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTC GGGGCAGGACCCCGTCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(351): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATATT GATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGAT GGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGG TGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGA TGGTGATGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01106.hp2 others(44): Show HG00323.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0009 a0010 a0011 others(24): Show a0009 a0010 a0011 a0013 a0016 a0019 a0020 a0023 a0024 a0027 a0038 a0046 a0049 a0050 a0057 a0059 a0064 a0065 a0066 a0067 a0073 a0076 a0079 a0080 a0090 a0102 a0106	a0009c0009 a0010c0010 a0011c0012 others(24): Show a0009c0009 a0010c0010 a0011c0012 a0013c0013 a0016c0016 a0019c0018 a0020c0021 a0023c0028 a0024c0042 a0027c0026 a0038c0039 a0046c0048 a0049c0053 a0050c0054 a0057c0062 a0059c0064 a0064c0068 a0065c0067 a0066c0066 a0067c0070 a0073c0082 a0076c0077 a0079c0110 a0080c0107 a0090c0102 a0102c0113 a0106c0044	a0009c0009t0000 a0010c0010t0000 a0011c0012t0000 others(24): Show a0009c0009t0000 a0010c0010t0000 a0011c0012t0000 a0013c0013t0000 a0016c0016t0000 a0019c0018t0000 a0020c0021t0000 a0023c0028t0000 a0024c0042t0000 a0027c0026t0000 a0038c0039t0000 a0046c0048t0000 a0049c0053t0000 a0050c0054t0000 a0057c0062t0000 a0059c0064t0000 a0064c0068t0000 a0065c0067t0000 a0066c0066t0000 a0067c0070t0000 a0073c0082t0000 a0076c0077t0000 a0079c0110t0000 a0080c0107t0000 a0090c0102t0000 a0102c0113t0000 a0106c0044t0000	a0009c0009t0000g0162 a0009c0009t0000g0163 a0009c0009t0000g0164 others(44): Show a0009c0009t0000g0162 a0009c0009t0000g0163 a0009c0009t0000g0164 a0009c0009t0000g0167 a0009c0009t0000g0168 a0009c0009t0000g0215 a0010c0010t0000g0217 a0011c0012t0000g0046 a0011c0012t0000g0047 a0011c0012t0000g0049 a0011c0012t0000g0229 a0011c0012t0000g0230 a0013c0013t0000g0058 a0013c0013t0000g0071 a0013c0013t0000g0275 a0016c0016t0000g0211 a0016c0016t0000g0214 a0016c0016t0000g0219 a0016c0016t0000g0220 a0019c0018t0000g0221 a0019c0018t0000g0277 a0020c0021t0000g0165 a0020c0021t0000g0166 a0020c0021t0000g0169 a0023c0028t0000g0022 a0023c0028t0000g0023 a0024c0042t0000g0333 a0024c0042t0000g0334 a0027c0026t0000g0040 a0027c0026t0000g0053 a0038c0039t0000g0013 a0046c0048t0000g0322 a0049c0053t0000g0054 a0050c0054t0000g0048 a0057c0062t0000g0021 a0059c0064t0000g0325 a0064c0068t0000g0330 a0065c0067t0000g0226 a0066c0066t0000g0017 a0067c0070t0000g0026 a0073c0082t0000g0222 a0076c0077t0000g0276 a0079c0110t0000g0288 a0080c0107t0000g0223 a0090c0102t0000g0283 a0102c0113t0000g0028 a0106c0044t0000g0011	47	346	0.1358	358	c.963 others(375): Show c.963+3456_963+3457insTCATCACCATCACCGTCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCAT CACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCAA CATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACCA TCACATCATCACCATCACCATCATCACCATCAATATCATCACCATCATCA CCATCACCATCATCACCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(351): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp2 HG01109.hp2 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0062 a0003c0010t0001g0088 a0001c0001t0001g0062 a0003c0010t0001g0088	2	166	0.0121	358	c.198 others(377): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(351): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0056 a0003c0003t0001g0056	1	328	0.0031	358	c.100 others(377): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(351): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCT CCCCCACGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0341 a0001c0002t0002g0341	1	410	0.0024	358	c.-22 others(375): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(351): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGG AGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	386	0.0026	358	c.803 others(372): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC6_chr10_59783747_59911556	59882473	C C	CGCGGGGA others(351): Show CGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0193 a0001c0003t0009g0193	1	288	0.0035	358	c.303 others(377): Show c.303+23648_303+23649insTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC CTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293570	C C	CCACCTTC others(351): Show CCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCT GCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGC CCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCT GCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGC CCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCT GCCACAGCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	284	0.0035	358	c.411 others(375): Show c.4112+602_4112+603insAGCTGTGGCAGGTGAGGATGGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGTGAGGGGGCAGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(351): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	442	0.0023	358	c.27 others(369): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(351): Show CGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGT GCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACG CGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTG GCGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0027 a0002c0004t0027	a0002c0004t0027g0098 a0002c0004t0027g0098	1	106	0.0094	358	c.169 others(377): Show c.169+28403_169+28404insATGTACGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGG CGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH8_chr16_61642250_62041438	61960157	G G	GTGTGTGT others(351): Show GTGTGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATACACATACATATATACATATGTGTGTATAC ACATACATATATACATATGTGTGTGTGTATACACATACATATATACATAT GTGTGTGTATGCACATACATATATACATATGTGTGTATACACATACATAT ATACATATGTGTGTATACACACATATATACATATGTGTGTGTATACACAC ATATATACATATGTGTGTGTATACACACACACATATGTATATATGTATGT GTATACACACATATATGTATATATGTATGTGCATACACACACACACATGT ATATATGTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0038 a0001c0001t0044g0038	1	168	0.0060	358	c.253 others(377): Show c.253-58685_253-58684insTACATATATACATGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTATACACATACATATATACATA TGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACACA TATGTATATATGTGTGTATACACACATATGTATATATGTATGTGTATACA CACATATGTATATATGTATGTGCATACACACACATATGTATATATGTATG TGTATACACACACACATATGTATATATGTATGTGTATACACACATATGTA TATATGTATGTGTATACACACACATATGTATATATGTATGTGTATACACA CACATATGTATATATGTATGTGTATACACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(351): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	196	0.0051	358	c.742 others(377): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(351): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0275 a0003c0003t0003g0275	1	358	0.0028	358	c.96+ others(371): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CEP170B_chr14_104860268_104901747	104884793	G G	GGGGGGTG others(351): Show GGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAA CGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGG GGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTG GGGAACGGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCG TGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTC GTGGGGAAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0087 a0001c0087	a0001c0087t0002 a0001c0087t0002	a0001c0087t0002g0209 a0001c0087t0002g0209	1	328	0.0031	358	c.177 others(375): Show c.1770+249_1770+250insTGGAGGTGATGCCGGGGGTGGCGAGTGA GAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGT GAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGA GTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCG AGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGCGATGCCGGGGGTGG CGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAACGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP44_chr3_113281930_113446493	113328300	A A	ATCTCTTT others(351): Show ATCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCG CCCGGCCAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0058 a0002c0002t0032g0058	1	348	0.0029	358	c.411 others(375): Show c.4117-482_4117-481insATGGCCGGGCGCGGTAGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAAAGAGA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CHD9_chr16_53049991_53332497	53149742	T T	TAGAAATG others(351): Show TAGAAATGGGGTCTTGCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGAAGGCTGA GGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGAGCCGGGA TAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	238	0.0042	358	c.-16 others(377): Show c.-164-6168_-164-6167insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGA AGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGA GCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAATGGGGTCTTGC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500533	A A	AGTGTGGG others(351): Show AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTT TGGTGTGTGGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0003 a0006c0028t0003	a0006c0028t0003g0230 a0006c0028t0003g0230	1	292	0.0034	358	c.268 others(377): Show c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGGTGGGGGTGTGGTTTGGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(351): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	350	0.0029	358	c.510 others(377): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATGTGTAC others(351): Show ATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTACAT ATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGTGT ATATGTGTGTGTATATACATATATGTGTATATACACACACATATACACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATGT GTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	358	c.19 others(369): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACA CATATATGTATATACACACACATATACACACATATATGTACACATATATA TGTGTATATACATATACACACATATATGTACACATATATGTGTGTATATA CATATATACACATATATGTACACA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATGTGTAC others(351): Show ATGTGTACATATATGTGTGTATATGTATATACACACATATATGTGTACAT ATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGTGT ATATGTGTGTGTATATACATATATGTGTATATACACACACATATACACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATGT GTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	358	c.19 others(369): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACA CATATATGTATATACACACACATATACACACATATATGTACACATATATA TGTGTATATACATATACACACATATATGTACACATATATGTGTGTATATA CATATACACACATATATGTACACA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATGTGTAC others(351): Show ATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTACAT ATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGTGT ATATGTGTGTGTATATACATATATGTGTATATACACACACATATACACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATGT GTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	358	c.19 others(369): Show c.1955_*1956insTGTGTACATATATGTGTATATATGTATATACACA CATATATGTGTACATATATGTGTGTATATGTATATACACATATATATGTG TACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACA CACACATATACACACATATATGTACACATATATATGTGTATATACATATA TACACATATATGTACACATATATATGTGTATATACATATATACACATATA TGTACACATATATATGTGTATATACGTATATACACATATATGTACACATA TGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGTGTGTA TATGTGTGTGTATATACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATGTGTAC others(351): Show ATGTGTACATATATGTGTGTATATGTATATACACACATATATGTGTACAT ATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGTGT ATATGTGTGTGTATATACATATATGTGTATATACACACACATATACACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATGT GTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	358	c.19 others(369): Show c.1955_*1956insTGTGTACATATATGTGTGTATATGTATATACACA CATATATGTGTACATATATGTGTGTATATGTATATACACATATATATGTG TACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACA CACACATATACACACATATATGTACACATATATATGTGTATATACATATA TACACATATATGTACACATATATATGTGTATATACATATATACACATATA TGTACACATATATATGTGTATATACGTATATACACATATATGTACACATA TGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGTGTGTA TATGTGTGTGTATATACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878382	A A	AATATATA others(351): Show AATATATATATAAATATATAAATATATATAAATATATATAAATATATATA TAAATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATATAAATATATAAATATATA TAAATATATATAAATATATATATAAATATATAAATATATATAAATATATA TAAATATATAAATATATATAGAAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATAAATATATATATAAATA TATAAATATATATAAATATATGTAAATATATATAAATATATATATAAATA TATATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG02486.hp1 others(4): Show HG00735.hp2 HG00738.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0019 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0019 a0002c0002t0001g0020	7	208	0.0337	358	c.192 others(377): Show c.1923+3760_1923+3761insTAAATATATAAATATATATAAATATA TATAAATATATATATAAATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATAAATATATATAAATATATATAAATATATATATAAATATATAAATA TATATAAATATATATAAATATATAAATATATATAGAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATAAATATATATAAATATATGTAAATATATATAAA TATATATATAAATATATATAAATATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(351): Show ATATATATGTGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATGTGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATGTGTATATATATATATATATATATAT ATGTGTATATATATATATATATATATATGTGTATATATATATATATATGT GTATATATATATATATATATATATGTGTATATATATATATATATATATAT ATATGTGTATATATATATATATATGTGTATATATATATATATATATATAT ATGTGTATATATATATATATATATATATATGTGTATATATATATATATAT ATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0195 a0002c0002t0008g0195	1	334	0.0030	358	c.290 others(373): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATATATGTGTATATATATATA TATATATATATATATGTGTATATATATATATATATATATATGTGTATATA TATATATATATATATATATGTGTATATATATATATATATATATATGTGTA TATATATATATATATGTGTATATATATATATATATATATATGTGTATATA TATATATATATATATATATATGTGTATATATATATATATATGTGTATATA TATATATATATATATATATGTGTATATATATATATATATATATATATGTG TATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACATC others(351): Show CCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACACCCCCC ACACCACACATCCCTCACACCACACATCCCTCACACCACACATCCCTCAC ACCCCCCACACCCCCACACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCC CACACACCCCCACACCACACACCCCCCACACCACACATCCCTCACACCAC ACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCCCCACACA CCCCCCACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	116	0.0086	358	c.207 others(377): Show c.2073+1468_2073+1469insTCCCCCACACCCCCCACACCCCCCAC ACCCCCCACACACCCCCCACACCACACATCCCTCACACCACACATCCCTC ACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCC CCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACA CACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCCCC CACATCCCCCACACCCCCCACACACCCCCACACCACACACCCCCCACACC ACACATCCCTCACACCACACATCCCTCACACCCCCCACACCCCCACACAC CCCCCACACCCCCACACACCCCCCACACCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(351): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	367	0.0027	358	c.-42 others(369): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DHRS12_chr13_51762993_51809163	51776079	T T	TGTATTCT others(351): Show TGTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTAC ATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACA TGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATG TATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTA TTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATG TATTCTACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03139.hp2 others(1): Show HG02818.hp1 HG02965.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133	4	420	0.0095	358	c.363 others(373): Show c.363+980_363+981insTGTAGAATACATGTAGGAGAATACTGTAGA ATACATGTAGGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAG AATACATGTAGGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTA GAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGA ATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAAT ACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAA TACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGA ATACATGTAGGAGAATACTGTAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(351): Show CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCTCAC CCTCACCCCCACCCCCACCCCCACCCCACCCCCACCCCCACCCTCACCCC CACCCCCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCAC CCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02922.hp1 others(4): Show HG02615.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG03579.hp2 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0053 a0004c0004 a0004c0053	a0004c0004t0001 a0004c0053t0001 a0004c0004t0001 a0004c0053t0001	a0004c0004t0001g0015 a0004c0004t0001g0134 a0004c0004t0001g0135 others(3): Show a0004c0004t0001g0015 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0149 a0004c0053t0001g0130	7	320	0.0219	358	c.39 others(369): Show c.3990_*3991insCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGG GGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGG GGTGGGGGTGGGGGTGGGGGTGAGGGTGAGGGTGGGGGTGCCGGTGCGGG TGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIRAS1_chr19_2709567_2726372	2713942	C C	CCACCCTT others(351): Show CCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCCCTTCACACTCCCCTACCCACCCCACCACCTCCTCCA CCCTTCATCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCT CCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCA CCACCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA19089.hp1 NA18974.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	412	0.0049	358	c.32 others(369): Show c.3267_*3268insAGGAGGTGGTGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGG TGGGTGTAGGAAGTGAGGGATGGGGAGAAGGGTGGAGGAGGTGACGGGTG TAGGAAGTGAGGGATGGATGAAGGGTGGAGGAGGTGGTGGGGTGGGTAGG GGAGTGTGAAGGGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		624		chr19	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(351): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATGATATATATATCATATATATGGGAT ATATATATCATATATATCATATATATGGGATATATATATCATATATATCA TATATATGGGATATATATATCATATATATCATATATATGGGATATATATA TCATATATATCATATATATGGGATATATATATCATATATATCATATATAT GGGATATATATATCATATATATCATATATATGGGATATATATATCATATA TATCATATATATGGGATATATATATCATATATATCATATATATGGGATAT ATATATCAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	336	0.0030	358	c.22- others(375): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATATCCCATATATATGATATATATGA TATATATATCCCATATATATGATATATATGATATATATATCCCATATATA TGATATATATGATATATATATCCCATATATATGATATATATGATATATAT ATCCCATATATATGATATATATGATATATATATCCCATATATATGATATA TATATCATATATATCATATATATGGGATATATATATCATATATATATCAT ATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(351): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	212	0.0047	358	c.162 others(371): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(351): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGG GATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAAC AAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTC CGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTC TTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCA CCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGA GCACAGGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02896.hp2 others(2): Show HG02055.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0005 a0001c0003t0014	a0001c0003t0005g0016 a0001c0003t0005g0019 a0001c0003t0005g0026 others(2): Show a0001c0003t0005g0016 a0001c0003t0005g0019 a0001c0003t0005g0026 a0001c0003t0005g0027 a0001c0003t0014g0017	5	336	0.0149	358	c.716 others(375): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(351): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGG GATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAAC AAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTC CGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTC TTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCA CCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGA GCACAGGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0014 a0001c0003t0015g0014	1	336	0.0030	358	c.716 others(375): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DYM_chr18_49031387_49465645	49440439	G G	GTGACTAT others(351): Show GTGACTATATATTATATATTTATATAATATATGACTATATATTATATATT TATATAATATATGACTATATATTATATATTTATATAATATATGACTATAT ATTATATATTTATATAATATATGACTATATATTATATATTTATATAATAT ATGACTATATATTATATATTTATATAATATATGACTATATATTATATATT TATATAATATATGACTATATATTATATATTTATATAATATATGACTATAT ATTATATATTTATATAATATATGACTATATTATATATTTATATAATATAT GACTATATATTATATATTTATATAATATATGACTATATATTATATATTTA TATAATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	290	0.0035	358	c.-53 others(375): Show c.-53-9993_-53-9992insTATATTATATAAATATATAATATATAGT CATATATTATATAAATATATAATATATAGTCATATATTATATAAATATAT AATATAGTCATATATTATATAAATATATAATATATAGTCATATATTATAT AAATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCA TATATTATATAAATATATAATATATAGTCATATATTATATAAATATATAA TATATAGTCATATATTATATAAATATATAATATATAGTCATATATTATAT AAATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCA TATATTATATAAATATATAATATATAGTCA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EPB41L2_chr6_130834347_131068245	130848795	A A	ACAAAATT others(351): Show ACAAAATTTACATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGACTACA GACGCCCGCCACCACACCCGGCTAATTTTTTTGTGTTTTTTTAGTAGAGA CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	356	0.0028	358	c.6- others(373): Show c.6-8198_*6-8197insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAACACAAA AAAATTAGCCGGGTGTGGTGGCGGGCGTCTGTAGTCCCAGCTACGCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACATGTAAATTTTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar

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