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
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(189): Show CCACGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0015 a0032c0075t0008g0015	1	48	0.0208	196	c.199 others(215): Show c.1994+2495_1994+2496insCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCAGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0018 a0001c0031t0001g0018	1	48	0.0208	196	c.199 others(215): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCATGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0006 a0001c0093t0006	a0001c0093t0006g0053 a0001c0093t0006g0053	1	48	0.0208	196	c.199 others(215): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(189): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04228.hp1 HG01516.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0005 a0003c0001t0059 a0001c0004t0005 a0003c0001t0059	a0001c0004t0005g0102 a0003c0001t0059g0026 a0001c0004t0005g0102 a0003c0001t0059g0026	2	49	0.0408	196	c.199 others(215): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(189): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	284	0.0035	196	c.115 others(213): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84086471	G G	GTATTATT others(189): Show GTATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0209 a0001c0005t0001g0209	1	97	0.0103	196	c.453 others(215): Show c.453+23998_453+23999insTATTATATGTAAATATAATATAATAA TATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086499	A A	ATATTATT others(189): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	268	0.0037	196	c.453 others(215): Show c.453+23970_453+23971insCATTATATGTAAATATAATATAATAA TATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086516	T T	TTACATAT others(189): Show TTACATATAATATATTATTATATTATATTTACATATAATATATTATTATA TTATATTTACATATAATATATTATTATATTATATTTACATATAATATATT ATTATATTATATTTACATATAATATATTATTATATTATATTTACATATAA TATATTATTATATTATATTTACATATAATATATTATTATATTATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0154 a0001c0003t0012g0154	1	274	0.0036	196	c.453 others(215): Show c.453+23953_453+23954insCATATAATATAATAATATATTATATG TAAATATAATATAATAATATATTATATGTAAATATAATATAATAATATAT TATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAATA ATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAAT ATAATAATATATTATATGTA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(189): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp2 HG01169.hp1 others(13): Show HG00544.hp2 HG01167.hp2 HG01169.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG04115.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18969.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0002t0002 a0001c0002t0038 a0001c0005t0001 a0001c0005t0034	a0001c0001t0001g0035 a0001c0001t0001g0112 a0001c0001t0004g0094 others(13): Show a0001c0001t0001g0035 a0001c0001t0001g0112 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0028g0057 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0042 a0001c0002t0002g0049 a0001c0002t0002g0058 a0001c0002t0002g0179 a0001c0002t0002g0233 a0001c0002t0002g0274 a0001c0002t0038g0020 a0001c0005t0001g0191 a0001c0005t0034g0041	16	259	0.0618	196	c.453 others(215): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(189): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATGTATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02886.hp1 HG03041.hp2 others(3): Show HG00639.hp1 HG02886.hp1 HG03041.hp2 HG06807.hp2 NA18612.hp1 NA19076.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0005 a0001c0003t0006 a0001c0004t0005	a0001c0003t0006g0014 a0001c0003t0006g0155 a0001c0003t0006g0156 others(3): Show a0001c0003t0006g0014 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0219 a0001c0004t0005g0016 a0001c0004t0005g0253	6	249	0.0241	196	c.453 others(215): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086555	A A	ATATTATT others(189): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATGTATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03490.hp2 HG03492.hp2 others(6): Show HG00741.hp1 HG03490.hp2 HG03492.hp2 NA18956.hp1 NA18966.hp1 NA18991.hp1 NA19001.hp2 NA19056.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0012 a0001c0001t0001 a0001c0002t0002 a0001c0003t0012	a0001c0001t0001g0064 a0001c0002t0002g0062 a0001c0002t0002g0065 others(6): Show a0001c0001t0001g0064 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0262 a0001c0003t0012g0189	9	268	0.0336	196	c.453 others(215): Show c.453+23914_453+23915insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086555	A A	ATATTATT others(189): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATGTATTATTATATTATATTTACATATAATGTATTATTAT ATTATATTTACATATAATGTATTATTATATTATATTTACATATAATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA21309.hp2 NA18981.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0006 a0001c0002t0002 a0001c0003t0006	a0001c0002t0002g0063 a0001c0003t0006g0163 a0001c0002t0002g0063 a0001c0003t0006g0163	2	261	0.0077	196	c.453 others(215): Show c.453+23914_453+23915insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATACATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SERPINB9_chr6_2882270_2908309	2893192	A A	ATATATAT others(189): Show ATATATATATATTATATATACGTATATATATATAATATATATATATTATA TATACGTATATATATATAATATATATATATTATATATACGTATATATAAT ATATATATATATTATATATACGTATATATAATATATATATTATATATACG TATATATATACGTATATATAATATATATATTATATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0134 a0001c0001t0107g0134	1	460	0.0022	196	c.567 others(211): Show c.567+218_567+219insATATATACGTATATATAATATATATATTAT ATATACGTATATATATACGTATATATAATATATATATTATATATACGTAT ATATAATATATATATATATTATATATACGTATATATAATATATATATATT ATATATATATACGTATATATAATATATATATATTATATATATATACGTAT ATATAATATATATATA	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SFI1_chr22_31491536_31623588	31601973	T T	TTTTTTTT others(189): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0317 a0006c0008t0001g0317	1	312	0.0032	196	c.154 others(213): Show c.1545-239_1545-238insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SFSWAP_chr12_131706090_131804738	131779208	T T	TGTGTGTG others(189): Show TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAA GAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA20129.hp2 HG01517.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0047 a0001c0001t0001g0070	2	64	0.0313	196	c.240 others(213): Show c.2408+933_2408+934insCGTGTGTGAAGAGGGCGGCGCGGGTGAG CGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAA GAGGGCGGCGCGGGTGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(189): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATA TTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCT GTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	319	0.0031	196	c.331 others(213): Show c.331-2658_331-2657insATGTCTTTATCCTACGGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTA CAGGCACTCTGTTTTGTAATATGTCTTTATCCTACGGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACA GGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(189): Show GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	157	0.0064	196	c.573 others(215): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHOX_chrX_625791_656584	628697	C C	CTTTCTCT others(189): Show CTTTCTCTCTCTCTATCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTT CTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTGTTTCTCTATCTCCAT CTCTCTGTCTCTCCCTTTGTCTCTCTCTGTCTCTCCCTCTCTCTCCCTGT CTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	176	0.0057	196	c.-22 others(207): Show c.-2201_-2200insTTTCTCTCTCTCTATCTCTCCCTCTCTCTCCCTG TCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTG TTTCTCTATCTCCATCTCTCTGTCTCTCCCTTTGTCTCTCTCTGTCTCTC CCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTG TCTCTCCCTGTG	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2093		chrX	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CACTCACA others(189): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCT CACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACC CCCGGACCCCGCTCACCCCCCGACCCGCCTCACCCCGGCCCCGCTCACCC CAGCCCCGCTCACAACCCGCCCCGCTCACACCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	171	0.0058	196	c.36 others(207): Show c.3641_*3642insTGTGAGCGGGGTCCCGGTGTGAGCGGGGCGGGTT GTGAGCGGGGCTGGGGTGAGCGGGGCCGGGGTGAGGCGGGTCGGGGGGTG AGCGGGGTCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGC GGGGCCGGGTGTGAGCGGGTCGGGGGTGAGCGGGGCGGGGGTGAGCGGGG CCGGGTGTGAGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3461		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704278	A A	ATATATAT others(189): Show ATATATATACATATGTTTTATATGTATATATACATAGAAAATATATATAC ATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATA TGTATATATACATAGAAAATATATATACATATGTTTTATATGTATATATA TAGAAAATATATACATATGTTTTATATGTATATATACATAGAAACTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	264	0.0038	196	c.626 others(213): Show c.626+5745_626+5746insTACATATGTTTTATATGTATATATACAT AGAAAATATATATACATATGTTTTATATGTATATATACATAGAAAATATA TATACATGTTTTATATGTATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATAGAAAATATATACATATGTTTTATATGTATATAT ACATAGAAACTGTATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704278	A A	ATATATAT others(189): Show ATATATATACATATGTTTTATATGTATATATACATAGAAAATATATATAC ATGTTTTATATGTATATATACATAGAAAATATATATACATATGTTTCATA TGTATATATATAGAAAATATATACATATGTTTTATATGTATATATACATA GAAACTGTATATACATAGGTTTTATATGTATATATACATAGAAACTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	264	0.0038	196	c.626 others(213): Show c.626+5745_626+5746insTACATATGTTTTATATGTATATATACAT AGAAAATATATATACATGTTTTATATGTATATATACATAGAAAATATATA TACATATGTTTCATATGTATATATATAGAAAATATATACATATGTTTTAT ATGTATATATACATAGAAACTGTATATACATAGGTTTTATATGTATATAT ACATAGAAACTGTATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(189): Show GTATATATATATATATATATATATATACTCTAAGTATTATATATTATATA CTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATGTATATATAT ATATATTTATACACACATATATATACATACACATATATATATACACACAC ACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	166	0.0060	196	c.240 others(215): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATGTATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(189): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTATATATATATATATATATGTATATAT ATATATATTTATACACACATATATATACATACACATATATATATACACAC ACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	166	0.0060	196	c.240 others(215): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(189): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02976.hp2 HG03225.hp1 HG01175.hp2 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0099 a0001c0002t0001g0123 a0001c0002t0001g0002 a0001c0002t0001g0099 a0001c0002t0001g0123	3	168	0.0179	196	c.240 others(215): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTGTATAT others(189): Show GTGTATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	166	0.0060	196	c.240 others(213): Show c.2402+987_2402+988insGTATATATATATATATATATATATATAC TCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGTGTGTATAT ATATATATATATATGTATATATATATATATTTATACACACATATATATAC ATACACATATATATATACACACACACACAGAGTTTTGGAGTATATAATAT ATAATACTTAGAGTATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072512	G G	GAGCCCCC others(189): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0068 a0002c0008t0002g0068	1	97	0.0103	196	c.224 others(215): Show c.2241+1120_2241+1121insGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTG ATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	G G	GAGCCCCC others(189): Show GAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGTATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0017 a0001c0009t0006g0017	1	97	0.0103	196	c.224 others(213): Show c.2241+691_2241+692insGCATAAGTGTGATACCCGTGTGCTGGGG GCTCACTGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGGGCTCACTGG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCAT AAGTGTGATACCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGAT ACCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A5_chr1_9030106_9074635	9053368	T T	TTATATAT others(189): Show TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTATATATATTATATATTTATATATTATATATATTTATATATAATATAT ATTATATATTTATATATTATATATATTTATATATATTATATATTTATATA TTATATATATTTATATATATTATATATTTATATATTATATATATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01069.hp2 others(5): Show HG00140.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG03654.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0087 others(5): Show a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100	8	291	0.0275	196	c.293 others(213): Show c.293+4079_293+4080insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATTATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT AAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(189): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATATTATATATTTATATATTATATATATTTATATA TTATATATATTTATATATATTATATATATTTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	174	0.0057	196	c.293 others(213): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATATAATATATAAATATATA ATATATATAAATATATATAATATATAAATATATAATATATATAAATATAT ATAATATATAAATATATAATATATATAAATATATATAATATATAAATATA TAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A9_chr4_9821224_10026497	9874864	C C	CGCTGTGT others(189): Show CGCTGTGTCTTTAGAAATGGCCATAGGTGAGTGTCTGTCTAAGATGGGAT GCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGATGGGATG CTGTGCCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAGATGGGATGC TGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAGATGGGAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	311	0.0032	196	c.129 others(217): Show c.1291+12702_1291+12703insATCCCATCTTAGACAGACGCTAAC CTATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGACGCTAACC TATGGCCATTTCTAAAGGCACAGCATCCCATCTTAGACAGAGAGTAACCT ATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGACACTCACCTA TGGCCATTTCTAAAGACACAGC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9874864	C C	CGCTGTGT others(189): Show CGCTGTGTCTTTAGAAATGGCCATAGGTTAGTGTCTGTCTAAGATGGGAT GCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGATGGGATG CTGTGCCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAGATGGGATGC TGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAGATGGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(19): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00738.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02145.hp2 HG02300.hp2 HG02735.hp2 HG03098.hp2 HG03130.hp1 HG03491.hp2 HG03579.hp1 NA18961.hp1 NA19002.hp2 NA19004.hp1 NA19054.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0016	a0001c0001 a0002c0006 a0002c0008 others(3): Show a0001c0001 a0002c0006 a0002c0008 a0003c0002 a0005c0005 a0016c0038	a0001c0001t0001 a0002c0006t0001 a0002c0008t0001 others(3): Show a0001c0001t0001 a0002c0006t0001 a0002c0008t0001 a0003c0002t0001 a0005c0005t0001 a0016c0038t0001	a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 others(19): Show a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0212 a0002c0006t0001g0188 a0002c0008t0001g0271 a0003c0002t0001g0084 a0005c0005t0001g0304 a0016c0038t0001g0236	22	332	0.0663	196	c.129 others(217): Show c.1291+12702_1291+12703insATCCCATCTTAGACAGACGCTAAC CTATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGACGCTAACC TATGGCCATTTCTAAAGGCACAGCATCCCATCTTAGACAGAGAGTAACCT ATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGACACTAACCTA TGGCCATTTCTAAAGACACAGC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9874864	C C	CGCTGTGT others(189): Show CGCTGTGTCTTTAGAAATGGCCATAGGTTAGTGTCTGTCTAAGATGGGAT GCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCTGTCTAAGATGGGATG CTGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAGATGGGATGC TGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGTCTAAGATGGGAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0287 a0005c0005t0001g0287	1	311	0.0032	196	c.129 others(217): Show c.1291+12702_1291+12703insATCCCATCTTAGACAGACGCTAAC CTATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGACGCTAACC TATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGAGAGTAACCT ATGGCCATTTCTAAAGACACAGCATCCCATCTTAGACAGACACTAACCTA TGGCCATTTCTAAAGACACAGC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9875277	G G	GGTTACTC others(189): Show GGTTACTCTCTGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAG GTTAGTGTCTGTCTAAGATGGGATGCTGTGTCTTTTGAAATGGCCATAGG TTAGCATCTGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGT TACTCTCTGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0287 a0005c0005t0001g0287	1	334	0.0030	196	c.129 others(217): Show c.1291+12289_1291+12290insATATGGCCATTTCTAAAGACACAG CATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACACAGC ATCCCATCTTAGACAGATGCTAACCTATGGCCATTTCAAAAGACACAGCA TCCCATCTTAGACAGACACTAACCTATGGCCATTTCTAAAGACACAGCAT CCCATCTTAGACAGAGAGTAAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC35F2_chr11_107785991_107863787	107862331	A A	AGGAGGCA others(189): Show AGGAGGCAGAGGTTGCAGTGAGTTGAGATCGTGCCATTGCACTCCAGCCT GGGTGACATAGCAAGACTGTGTCCCCACCACCACCACCACCAAAAAAAGG AGGGAAACAGAAAGAAAAGAAAGTGATATAATGTAAGCAGAGGTTGAAGT GATGCGCTTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG01243.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0038 a0001c0001t0018 a0001c0001t0038	a0001c0001t0018g0008 a0001c0001t0038g0009 a0001c0001t0018g0008 a0001c0001t0038g0009	2	316	0.0063	196	c.-37 others(207): Show c.-3760_-3565dupCGCGTTCAAGTGATTCTCCTGCCTCAGCCTCCTG AGTAAAGCGCATCACTTCAACCTCTGCTTACATTATATCACTTTCTTTTC TTTCTGTTTCCCTCCTTTTTTTGGTGGTGGTGGTGGTGGGGACACAGTCT TGCTATGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAACTCACTGCA ACCTCTGCCTCC	SLC35F2	ENSG00000110660.15	transcript	ENST00000525815.6	protein_coding		3545		chr11	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCTACC others(189): Show CATCTACCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0313 a0002c0002t0002g0314	2	202	0.0099	196	c.107 others(213): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGGTAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(189): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCT TTCTCCTCTTTCTCTCTTTCTCTCTCTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	358	0.0028	196	c.152 others(213): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAGAGAGAG AAAGAGAGAAAGAGGAGAAAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLURP2_chr8_142759338_142774828	142760619	C C	CCATACAA others(189): Show CCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAG CATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACC ATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCA TACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	340	0.0029	196	c.39 others(207): Show c.3985_*3986insCTGCATGACAAACCACTGAATTACCCACTGTAAA CGGGTGGATTGTATGGTGCGTGAGAAACCACTGAATTACCCACTGTAAAC GGGTGGATTGTATGGTGCGTGAGAAACCACTGAATTACCCACTGTAAACG GGTGGATTGTATGCTGCATGACAAACCACTGAATTACCCACTGTAAACGG GTGGATTGTATG	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3718		chr8	TogoVar
SMYD3_chr1_245744347_246512279	246395781	T T	TGGTCAGA others(189): Show TGGTCAGACAGGGAAGAGGAACCCACCACGGCTGGACAGGGAAGACGAAC ACACCACAGTCAGACAGGGAAGACGAACCCACCACAGTCAGACAGGGAAG AGGAACCCACCACGGTCAGACAGGGAAGAGGAACCCACCATGGCTGGACA GGGAAGACGAACACACCACAGTCAGACAGGGAAGACGAACCCACCAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0018 a0001c0011t0002g0018	1	91	0.0110	196	c.165 others(215): Show c.165-40688_165-40687insGTGGTGGGTTCGTCTTCCCTGTCTGA CTGTGGTGTGTTCGTCTTCCCTGTCCAGCCATGGTGGGTTCCTCTTCCCT GTCTGACCGTGGTGGGTTCCTCTTCCCTGTCTGACTGTGGTGGGTTCGTC TTCCCTGTCTGACTGTGGTGTGTTCGTCTTCCCTGTCCAGCCGTGGTGGG TTCCTCTTCCCTGTCTGACC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(189): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0071 a0018c0035t0001g0071	1	60	0.0167	196	c.72+ others(213): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557553	C C	CCTCTTCC others(189): Show CCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0308 a0001c0001t0011g0308	1	317	0.0032	196	c.55 others(207): Show c.5568_*5569insAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG GAAGAGGAAGAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3539		chr14	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(189): Show TTATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0197 a0001c0001t0079g0197	1	94	0.0106	196	c.481 others(213): Show c.481+8508_481+8703dupTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837671	A A	ATATATTT others(189): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGCTATATTTATATTTATATAATATATAAGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0082 a0001c0001t0011g0082	1	157	0.0064	196	c.481 others(213): Show c.481+8311_481+8312insGCTTATATATTATATAAATATAAATATA GCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837859	T T	TATATAAG others(189): Show TATATAAGATATATTTATATTTATATAAGATATAAGATATATTTATATTT ATATAAGATATAAGATATATTTATATTTATATAATATATAAGATATATTT ATATTTATATAAGATATAAGATATATTTATATTTATATAATATATAAGAT ATATTTATATTTATATAAGATATAAGATATATTTATATTTATATAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0154 a0001c0001t0054g0154	1	210	0.0048	196	c.481 others(213): Show c.481+8123_481+8124insCTTATATAAATATAAATATATCTTATAT CTTATATAAATATAAATATATCTTATATATTATATAAATATAAATATATC TTATATCTTATATAAATATAAATATATCTTATATATTATATAAATATAAA TATATCTTATATCTTATATAAATATAAATATATCTTATATCTTATATAAA TATAAATATATCTTATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19060.hp2 NA18974.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0015	2	19	0.1053	196	c.54 others(207): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA19006.hp1 NA19064.hp1 NA18960.hp2 NA19006.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	20	0.1500	196	c.54 others(207): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	196	c.54 others(207): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89852455	A A	ACCAGATC others(189): Show ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCC TGGCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCT TCCATCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCC CCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	110	0.0091	196	c.646 others(213): Show c.646-1783_646-1782insCTGGCCCATCTTCCATCCTCCCTCTCAC CCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCC CACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(189): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG02922.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0158 a0001c0006t0001g0159 a0001c0001t0001g0158 a0001c0006t0001g0159	2	7	0.2857	196	c.138 others(215): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPTSSA_chr14_34427788_34467240	34443208	T T	TGTGTGTG others(189): Show TGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCAG CTGGAGTGCAATGGCAGTCTTAGCTCACTGCAACCTCTGCCTCCCAGGTT CAAGCGATTCTCCTGCTTCTAGGGGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTTTTTTTTGAGATTGAGTTTTCCTCTAGGG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	340	0.0029	196	c.113 others(213): Show c.113-7905_113-7904insCCCTAGAGGAAAACTCAATCTCAAAAAA AACACACACACACACACACACACACACACACACACACACACACACCCCTA GAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAA GACTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCATCTCAAA ACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	641937	T T	TGGGGGGG others(189): Show TGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCA GCGGGGGTGGAGTTGGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG TGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	347	0.0029	196	c.67 others(207): Show c.6776_*6777insCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCCA ACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4677		chr20	TogoVar

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