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
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGGAGGAGGGGGGA GGAGGGCAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	415	c.36 others(426): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGG GGGGAGGAGGGGGGAGGAGGGCAGGGGGGGAGGAGGGGAGGGGGGAGGAG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGGAGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(408): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGGTGT GGGCGGAGGGGAGTTTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0006 a0004c0019t0001g0006	1	16	0.0625	415	c.188 others(434): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAG GGTGGAGAGATGGGGGGTGTGGGCGGAGGGGAGTTTGGAGAGATGAGGGT GTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGA GAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGA GGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGG TGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMOC1_chr5_41899344_41926636	41914503	A A	AACAAAAC others(408): Show AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	316	0.0032	415	c.601 others(432): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAG	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(408): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	255	0.0039	415	c.48 others(426): Show c.4815_*4816insAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(408): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	102	0.0098	415	c.351 others(434): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAAACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GGTGGGGA others(408): Show GGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCG TGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0108	1	102	0.0098	415	c.351 others(434): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC CCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA CCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCGB1C2_chr17_132569_144067	140843	T T	TTGGTGAG others(408): Show TTGGTGAGGGGACATGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGAGGACCTGCTGAGGGGACCTGGGGGGGACCTTGGTGAGGGGACATGG TGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGAG GGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGG GTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTG GTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGA CCTGGTGAGGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	402	0.0050	415	c.19 others(426): Show c.1901_*1902insTGGTGAGGGGACATGGTGAGGAGGACCTGGTGAG GGGACATGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGG TGAGGGGACCTGGTGAGGAGGACCTGCTGAGGGGACCTGGGGGGGACCTT GGTGAGGGGACATGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGA GCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGA GGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC CTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAG GACCTGGTGAGGGGACCTGGTGAGGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1777		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(408): Show TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGA GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGG GGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	136	0.0074	415	c.464 others(428): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGG GGGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGTTGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3962994	T T	TCCATGGC others(408): Show TCCATGGCTACCTGGATGTAACCACTGGGTACACCCAGGCTCACAGCTAC CTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCATGGCTACCTGGAT GTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGATCTGGACGTATCC AGTGAGTACATTCAGCCCCATGGCTACCTGGATGTAATCAGTGGGTACAC CCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACATTCAGCC CCATGGCTACCTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACC TGACCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGCTATCTGGATG TAACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCA GTGAGTACACTCAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0013 a0001c0038t0013	a0001c0038t0013g0038 a0001c0038t0013g0038	1	100	0.0100	415	c.142 others(432): Show c.1429+184_1429+598dupCACAGCTACCTGACCTGGACGTATCCAG TGAGTACACTCAGCCCCATGGCTACCTGGATGTAACCAGTGGGTACACCC AGGCTCACAGCTACCTGATCTGGACGTATCCAGTGAGTACATTCAGCCCC ATGGCTACCTGGATGTAATCAGTGGGTACACCCAGGCTCACAGCTACCTG ACCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGCTACCTGGATGTA ACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGT GAGTACATTCAGCCCCATGGCTATCTGGATGTAACCAGTGGGTACACCCA GGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCA TGGCTACCTGGATGTAACCACTGGGTACACCCAGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(408): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATAT TATATTTACATATAATATATTATTATATTATATTTACATATAATATATTA TTATATTATATTTACATATAATATATTATTATATTATATTTACATATAAT ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	259	0.0039	415	c.453 others(434): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATATATTA TATGTAAATATAATATAATAATATATTATATGTAAATATAATATAATATA TTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAAT AATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAA TATAATAATATATTATATGTAAATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(408): Show GAGAATAGAATAGAATGGAATGGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	181	0.0055	415	c.165 others(432): Show c.165+5274_165+5275insGGAATGGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(408): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	375	0.0027	415	c.-14 others(426): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(408): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTG GGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG AGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACC ACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG01884.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0002g0270 a0001c0001t0001g0188 a0001c0001t0002g0270	2	376	0.0053	415	c.-14 others(426): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGA GCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCA CCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCC CTGGGCGGGAGCACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC25A21_chr14_36672921_37177606	36789863	A A	ATATATTT others(408): Show ATATATTTATATATATTTATATATTTATATATATATTTATATATATTTAT ATATTTATATATATTTATATATATTTATATATATTTATATATTTATATAT ATTTATATATATATTTATATATATTTATATATTTATATATATTTTTATAT AATATATTTTTATTATATATATATTTATATATATAATATAATATATATAT TATATATATAATATATTTATATATATTTATATATATTATATATATTATAT ATTTATATATATTTATATATATTTATATATTTATATATAATATATTTTTA TATATTTTTATATAAATTTATATATATATTTTATATATATTTATATATAA ATATATTTTTATATATTTATATAAATATATATTATATATTTATATAAAAT ATATATTATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	160	0.0063	415	c.203 others(434): Show c.203+24054_203+24055insAATATATATAATATATATTTTATATA AATATATAATATATATTTATATAAATATATAAAAATATATTTATATATAA ATATATATAAAATATATATATAAATTTATATAAAAATATATAAAAATATA TTATATATAAATATATAAATATATATAAATATATATAAATATATAATATA TATAATATATATAAATATATATAAATATATTATATATATAATATATATAT TATATTATATATATAAATATATATATAATAAAAATATATTATATAAAAAT ATATATAAATATATAAATATATATAAATATATATATAAATATATATAAAT ATATAAATATATATAAATATATATAAATATATATAAATATATAAATATAT ATAAATATATATATAAATATATAAATATATATAAATATA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(408): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATTATATAAATATAAATATATTATATATTATATAAATATAAA TATATTATATATTATATAAATATAAATATATTATATATTATATATAAATA TAAATATATTATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTAATAT ATTATATATAATATAAATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	132	0.0076	415	c.-70 others(432): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATAATATATAATATATTTATATTTA TATATAATATATATAATATATTTATATTATATATAATATATATAATATAT TTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(408): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGA CATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGG AGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAG GACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAG ACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGA GGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0003 a0007c0007t0002g0074 a0007c0007t0002g0003 a0007c0007t0002g0074	2	419	0.0048	415	c.732 others(430): Show c.732+497_732+498insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGG AAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGG TTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCC TGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAG GAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGG TTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGC CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414415	G G	GCAGGGAG others(408): Show GCAGGGAGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGA AGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTG GGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCG GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTG GGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG GGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGG CGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGCGCTGGGT GGGGGGCCTGGAGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0177 a0001c0006t0005g0177	1	367	0.0027	415	c.115 others(432): Show c.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGCGCCTT CCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCT CCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCCCACCCAGTGCCT TCCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGA CCCTCCAGGCCCCCCACCCAGTGCCTTCTCCTCCCTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNTG2_chr2_945849_1372613	1222839	C C	CGGCGCAG others(408): Show CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGACCGCTG TAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGAAT CGCTGTAGAGGAAAGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	66	0.0152	415	c.719 others(434): Show c.719+13611_719+13612insCGCAGTGATGGAGGGCGTCTCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GGTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGC GTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAA GTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTG CTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGT CCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAGTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(408): Show AAGGGGAAGGGGGAAGGGGGAGGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGA ACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGG GGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	12	0.0833	415	c.34 others(424): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCC CCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(408): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0089 a0003c0003t0002g0089	1	6	0.1667	415	c.138 others(434): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(408): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCCGCCCAGTGCCCCGCCCCCTGCCTG CTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCC GGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCC CGCCCAGTGCCCCGCCCCCTGACTGCTGCTAGCCCTGCCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCT CCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 NA18951.hp2 HG02071.hp1 HG02080.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0002 a0001c0001t0038	a0001c0001t0002g0027 a0001c0001t0038g0097 a0001c0001t0002g0027 a0001c0001t0038g0097	3	43	0.0698	415	c.483 others(428): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAG GGCTAGCAGCAGTCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGG CACTGGGCGGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCG GGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCA GGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGG CGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
TENM2_chr5_166974029_168269157	168076967	T T	TATTCTCA others(408): Show TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAACAAAAAAATAAAAAATAAAA TAAAATAAAATAAATAAATAAAAAAAAAAAAAAAAAATTAAATGTTCAAA AAATTTTAATGATATGGTCCTGATACAATGTTAAGTGAAAAACAAATAAA GAAAAATATATAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0024 a0001c0022t0021g0024	1	44	0.0227	415	c.151 others(436): Show c.1516-13606_1516-13605insTTCTCACTCATAGGTGGGAATTGA ACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAACAAAAAAATAAAAAATAAAATAAAATAAAATAAATAAATAAAAAAA AAAAAAAAAAATTAAATGTTCAAAAAATTTTAATGATATGGTCCTGATAC AATGTTAAGTGAAAAACAAATAAAGAAAAATATATAATTAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	9/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747942	G G	GGTAGAAG others(408): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGC GGGAGTCTGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	311	0.0032	415	c.189 others(430): Show c.189-368_189-367insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGG CACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134608223	G G	GTGCTGGT others(408): Show GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGT GAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGA CAGACCCCGAGAACTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	177	0.0056	415	c.323 others(434): Show c.323-56133_323-56132insAAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608254	G G	GTGCTGGT others(408): Show GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGT GAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGA CAGACCCCGAGAACTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	215	0.0047	415	c.323 others(434): Show c.323-56164_323-56163insAAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(408): Show CGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAA CGGAGGGGGAGGAGCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0300 a0001c0038t0001g0300	1	270	0.0037	415	c.336 others(430): Show c.336+662_336+663insCGCTCCTCCCCCTCCGTTACAGGACGGTGG CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGC TCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACA GGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCT GCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGAC GGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCC CTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTG ACCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(408): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGG CCACCGTCCTGTAACGGAGGGGTAGGAGCGGCCACCGTCCTGTAACGGAG GGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCAC CGTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGG GAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCC TGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGA GCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0022 a0022	a0022c0050 a0022c0050	a0022c0050t0001 a0022c0050t0001	a0022c0050t0001g0089 a0022c0050t0001g0089	1	11	0.0909	415	c.336 others(430): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAG GACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTC CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCCTCCGTTACAGGAC GGTGGCCGCTCCTACCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCC TCCGTTACAGGACGGTGGCCCACTCCTGCCCCTCCGTTACAGGACGGTGG CCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2418742	T T	TCTCCTTT others(408): Show TCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCC TTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCC TTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCC CCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTT CCCTCCCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01071.hp2 others(6): Show HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01934.hp2 HG02293.hp1 HG03017.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0005 a0003c0009 a0001c0004 a0002c0005 a0003c0009	a0001c0004t0002 a0002c0005t0002 a0003c0009t0002 a0001c0004t0002 a0002c0005t0002 a0003c0009t0002	a0001c0004t0002g0005 a0001c0004t0002g0035 a0001c0004t0002g0036 others(6): Show a0001c0004t0002g0005 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0039 a0001c0004t0002g0040 a0002c0005t0002g0041 a0003c0009t0002g0068 a0003c0009t0002g0071 a0003c0009t0002g0073	9	73	0.1233	415	c.215 others(432): Show c.2154+604_2154+605insCTCCTTTCCTTCCCTCCCTACCTCTCCT TTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCC TTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTC CCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTT CCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCA CCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCT CCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTC CTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(408): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAA TAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATA ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATT TCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG01109.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	2	3	0.6667	415	c.-41 others(426): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(408): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCC TGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGTCTGTCCACT TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACC TGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTC CCTCCACCTGCCCTCCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCT GCCACGTCCCTCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01106.hp2 others(17): Show HG00099.hp1 HG00323.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0006 a0008 a0018 others(1): Show a0006 a0008 a0018 a0025	a0006c0007 a0006c0031 a0008c0010 others(2): Show a0006c0007 a0006c0031 a0008c0010 a0018c0039 a0025c0043	a0006c0007t0006 a0006c0007t0021 a0006c0031t0006 others(4): Show a0006c0007t0006 a0006c0007t0021 a0006c0031t0006 a0008c0010t0006 a0008c0010t0024 a0018c0039t0006 a0025c0043t0025	a0006c0007t0006g0016 a0006c0007t0006g0041 a0006c0007t0006g0166 others(15): Show a0006c0007t0006g0016 a0006c0007t0006g0041 a0006c0007t0006g0166 a0006c0007t0006g0167 a0006c0007t0006g0169 a0006c0007t0006g0170 a0006c0007t0006g0171 a0006c0007t0006g0181 a0006c0007t0021g0040 a0006c0031t0006g0165 a0008c0010t0006g0028 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0103 a0008c0010t0024g0028 a0018c0039t0006g0016 a0025c0043t0025g0104	20	43	0.4651	415	c.123 others(434): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCC ACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCT CCTGCCGTGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCT CCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(408): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATAATGTATATATACATGTATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT AATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATATATATACATTATA CATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	329	0.0030	415	c.-23 others(432): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(408): Show GTATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATGTATATATACATTATACATACGTAAATGTATTATACA TAAATGTATATATGTATATATACATGTATTATACATACATAAATGTATAT ATGTATATATACATGTATTATACATACATAAATGTATATATGTATATATA CATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01169.hp1 others(12): Show HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02735.hp2 NA18945.hp1 NA18964.hp1 NA18983.hp1 NA19081.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0051	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0002g0019 a0001c0001t0025g0287 a0001c0001t0051g0066	15	284	0.0528	415	c.-23 others(432): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAA TGTATATATACATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(408): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATAACATGATGAT ATGATACTATATCATCATATAACATGATGATATGATACTATATCATCATA TAACATGATGATATGATACTATATCATCATATAACATGATGATATGATAC TATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0048 a0002c0003t0048	a0002c0003t0048g0002 a0002c0003t0048g0002	1	87	0.0115	415	c.41- others(432): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATAACATGATGATATGATAC TATATCATCATATAACATGATGATATGATACTATATCATCATATAACATG ATGATATGATACTATATCATCATATAACATGATGATATGATACTATATCA TCATATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(408): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	8	0.1250	415	c.657 others(430): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBGCP5_chr15_22994177_23044569	23042957	T T	TGGGGGGA others(408): Show TGGGGGGACATCATAACCCCACCTGGCCGGGGGTGCTGGGGGGCGGGGGG AACTTCATAACCCCACCTGGCCAGAGGTGCTGGTGGTGACTTCATAAATG TCACCGGGCCAGAGGTGCTGGGGGGATTTCATAACCACAGCTGACCATAG GTGCTGGGGGAGATTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGAC TTCATAAGCACACCTGGCCAGAGGTGCCAGGAGGACTTCATAACCACACC TGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCT GTGGGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGTATCAT AATCCCACCTGTCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCA GGAGGTGCTGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(33): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 NA18612.hp2 NA18747.hp1 NA18952.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19081.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0012 a0001c0001 a0001c0002 a0005c0012	a0001c0001t0001 a0001c0002t0002 a0005c0012t0002 a0001c0001t0001 a0001c0002t0002 a0005c0012t0002	a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0185 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0185 a0001c0001t0001g0247 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0029 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0128 a0005c0012t0002g0103	36	333	0.1081	415	c.-34 others(426): Show c.-3415_-3414insGCCCCCCAGCACCTCCTGCCAGCTGGGGTTATGA TGGCCCCACAGCACCTCTGGACAGGTGGGATTATGATACCCCCCAGCACC TCTGGCCAGGTGGGGTTATAATACCCCCCCACAGCACCTCTGGCCAGGTG AGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTCC TCCTGGCACCTCTGGCCAGGTGTGCTTATGAAGTCCCCCCAGCACCTCTG GCCAGGTGGGGTTATGAAATCTCCCCCAGCACCTATGGTCAGCTGTGGTT ATGAAATCCCCCCAGCACCTCTGGCCCGGTGACATTTATGAAGTCACCAC CAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCAC CCCCGGCCAGGTGGGGTTATGATGTCCCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3389		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870579	A A	ACCCCATA others(408): Show ACCCCATACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACCCCACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	153	0.0065	415	c.35 others(434): Show c.35+21847_*35+21848insCCCATACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACACCCCACACACA CCACACACCCCACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917309	G G	GGGCTTGG others(408): Show GGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GACGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0234 a0001c0023t0003g0234	1	92	0.0109	415	c.218 others(432): Show c.2183-102_2183-101insGGCTTGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(408): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATATTATATATAGTATATATGTAATAT ATATACTATATATATTATATATAGTATATATGTAATATATATACTATATA TATTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAAT ATATATACTATATATAGTATATATGTAATATATATACTATATATAGTATA TATGTAATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	91	0.0110	415	c.458 others(434): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATATTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATATATACTATATATAGTATA TATGTAATATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATACTATATATAGTATATATGTAATATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466568	T T	TGGTGTGT others(408): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAAGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0022 a0005c0004t0022	a0005c0004t0022g0009 a0005c0004t0022g0009	1	266	0.0038	415	c.18 others(424): Show c.185_*186insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAAGGAGGGAGGGAGGGGGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		59		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466909	A A	AGGGAGGG others(408): Show AGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	217	0.0046	415	c.52 others(424): Show c.526_*527insGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
ZFPM2_chr8_105313438_105809539	105380898	A A	AACATATA others(408): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAACATATAATATATATGTTATATATAT TATAATATATATAACATATAATATATATGTTATATATATTATAATATATA TAATATATAATATATATGTTATATATATTATAATATATATAATATATATG TTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	89	0.0112	415	c.41- others(432): Show c.41-38245_41-38244insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAATATATAATATATATGTTATATATATTA TAATATATATAATATATATGTTATATATATTATAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105533971	T T	TTCCTTCC others(408): Show TTCCTTCCTTCCTTCCTCCCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTT CCCTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTT CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCT TCCTCCCTCCCATCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	90	0.0111	415	c.302 others(434): Show c.302-27392_302-27391insTCCTTCCTTCCTTCCTCCCTTTCTCC CTCCCTCTCCTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCATC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCATCTTCCTTCCTCCCTCCCATCTTCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CATCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCATCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTC	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	3/7			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(408): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATATATGATATATATCACATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATGATATATATCATAT ATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	223	0.0045	415	c.-34 others(426): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATATATGATATATATCACATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TGATATATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATATATA others(408): Show CATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC ATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAT ATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCA TATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATA TACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCAT ATATACTGTGTATAGTACATAGTACCGTATATATACTGTGTATAGTACAT AGTACCGTATATACTGTATATAGTACATAGTACCGTATATATACTGTATA TAGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	204	0.0049	415	c.296 others(434): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATATACGGTACTATGTACTATATACAGTATATACGGTACTATGTACTATA CACAGTATATATACGGTACTATGTACTATACACAGTATATATGCTGTCTA TACTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACA GTATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTAT ACTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACAG TATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATA CTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACAGT ATATATGCTGTCTATACTGTATATATACACAGTATATAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(408): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATA TATATAAATATATATATTTATATATATATTTATATATATATAAATATATA TATATAAATATATATATATAAATATAAATAAATATATATTTATATATATA TATATTTATATATATATTTATATATATATAAATATATATATATTTATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTTATAT ATATATATAAATATATATATATATTTTATATATATATATAAATATATATA TATATTTTATATATATATATAAATATATATATATATTTTATATATATATA TAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	391	0.0026	415	c.532 others(430): Show c.532+441_532+442insTATATATATATATTTATATATATATATAAA ATATATATATATATTTATATATATATATAAAATATATATATATATTTATA TATATATATAAAATATATATATATATTTATATATATATATAAAATATATA TATATTTATATATATATAAATATATATATATTTATATATATAAATATATA TATATTTATATATATATAAATATATATATAAATATATATATATATAAATA TATATTTATTTATATTTATATATATATATTTATATATATATATTTATATA TATATAAATATATATATAAATATATATATTTATATATATATATATATATA AATATATATATATTTATATATATATATTTATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATAT	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(408): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATT TATATATATAAATATATATATTTATATATATATTTATATATATATAAATA TATATATATAAATATATATATATAAATATAAATAAATATATATTTATATA TATAAATATATATTTATATATATATTTATATATATATAAATATATATATA TATATATATAAATATATATATATTTATATATATATAAATATATATATATT TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATTTTATATATATA TATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	391	0.0026	415	c.532 others(430): Show c.532+441_532+442insTATATATATATTTATATATATATATAAAAT ATATATATATTTATATATATATATAAATATATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATATAAAATATATATATATT TATATATATATAAATATATATATATTTATATATATATATATATATATTTA TATATATATAAATATATATATAAATATATATTTATATATATAAATATATA TTTATTTATATTTATATATATATATTTATATATATATATTTATATATATA TAAATATATATATAAATATATATATTTATATATATAAATATATATATATA AATATATATATATTTATATATATATATTTATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATAT	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCB11_chr2_168915781_169036324	168975438	T T	TATAAATA others(409): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0008 a0002c0020t0008	a0002c0020t0008g0232 a0002c0020t0008g0232	1	293	0.0034	416	c.130 others(435): Show c.1308+1138_1308+1139insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(409): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATA TCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0048 a0001c0049 a0001c0048 a0001c0049	a0001c0048t0007 a0001c0049t0006 a0001c0048t0007 a0001c0049t0006	a0001c0048t0007g0020 a0001c0049t0006g0021 a0001c0048t0007g0020 a0001c0049t0006g0021	2	229	0.0087	416	c.130 others(435): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(409): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	270	0.0037	416	c.42 others(427): Show c.4206_*4207insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGA GACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289823	C C	CCCCGTCT others(409): Show CCCCGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0166	1	285	0.0035	416	c.37 others(427): Show c.3740_*3741insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2567		chr1	TogoVar

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