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
FTCD_chr21_46131779_46160579	46133592	GGGATAAG others(87): Show GGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	228	0.0044	-94	c.33 others(105): Show c.3301_*3394delTAGAATAGGCTGAGCCCTGGTCCAGTGTGACTCG GGTGAGCTCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCGGGT GAGCTTATCC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		3186		chr21	TogoVar
FTCD_chr21_46131779_46160579	46133686	AGGATGAG others(87): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02886.hp2 others(4): Show HG02257.hp2 HG02559.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0006 a0001c0002t0006 a0002c0005t0002 a0001c0001t0006 a0001c0002t0006 a0002c0005t0002	a0001c0001t0006g0083 a0001c0001t0006g0111 a0001c0001t0006g0123 others(4): Show a0001c0001t0006g0083 a0001c0001t0006g0111 a0001c0001t0006g0123 a0001c0002t0006g0124 a0001c0002t0006g0126 a0001c0002t0006g0169 a0002c0005t0002g0129	7	226	0.0310	-94	c.32 others(105): Show c.3207_*3300delCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCG GGTGAGCTCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCGGGT GAGCTCATCC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		3092		chr21	TogoVar
GABRG1_chr4_46030769_46129054	46117826	ATATATAC others(87): Show ATATATACATATGTATACATGTGTATCTATATACATATATACATATGTAT ACATGTGTATCTATATACATATATACATATGTATACATGTGTATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG01891.hp1 HG02896.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0290 a0001c0002t0007g0287 a0001c0002t0007g0288 others(1): Show a0001c0001t0001g0290 a0001c0002t0007g0287 a0001c0002t0007g0288 a0001c0002t0007g0289	4	305	0.0131	-94	c.104 others(111): Show c.104+5890_104+5983delGATACACATGTATACATATGTATATATG TATATAGATACACATGTATACATATGTATATATGTATATAGATACACATG TATACATATGTATATA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GALNS_chr16_88808734_88861947	88831770	GGGGTGCG others(87): Show GGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGA GGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	401	0.0025	-94	c.100 others(111): Show c.1002+134_1002+227delTGTGCTCAGCCTCCACGCACCCCATGCT CAGCCTCACCACCCTCCTCCCCACGCTCCCCGTGCTCGGCCTCACCGCTC TCCTCCCCACGCACCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALR1_chr18_77244848_77282900	77258695	GGTGGTCA others(87): Show GGTGGTCATGTGATGGTGGTGCTGGTGATGGTGGTGATGGTGATGATGGT TATGGTGGTGATGATGGCAATTGTGATAGTGATGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02809.hp1 others(6): Show HG02109.hp2 HG02647.hp1 HG02809.hp1 NA18944.hp2 NA18959.hp1 NA18964.hp2 NA19054.hp1 NA19084.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005	a0001c0001t0003 a0001c0001t0023 a0001c0001t0112 others(3): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0112 a0001c0002t0024 a0002c0006t0046 a0003c0005t0012	a0001c0001t0003g0244 a0001c0001t0023g0232 a0001c0001t0112g0079 others(4): Show a0001c0001t0003g0244 a0001c0001t0023g0232 a0001c0001t0112g0079 a0001c0002t0024g0008 a0001c0002t0024g0035 a0002c0006t0046g0026 a0003c0005t0012g0077	9	364	0.0247	-94	c.732 others(111): Show c.732+2474_732+2567delTGGTCATGTGATGGTGGTGCTGGTGATG GTGGTGATGGTGATGATGGTTATGGTGGTGATGATGGCAATTGTGATAGT GATGGTGGTGGTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GCH1_chr14_54837017_54907826	54880680	TATATATA others(87): Show TATATATATACTCATATATATATACTCCATATATATATACTCATATATAT ATATATACTCCATATATATATACTCCATATATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19240.hp2 NA21309.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283	3	321	0.0093	-94	c.344 others(113): Show c.344-15338_344-15245delGGAGTATATATATATATATGGAGTAT ATATATATGGAGTATATATATATATATGAGTATATATATATGGAGTATAT ATATATGAGTATATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GEN1_chr2_17749138_17793946	17778279	TATACACA others(87): Show TATACACACACATGTGTGTGTACATATATGTATATACACACACACGTGTA CATATATGTATACACACACATGTGTGTACATATATGTATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG02257.hp2 others(26): Show HG00621.hp2 HG00639.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18957.hp1 NA18968.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp2 NA18992.hp2 NA19001.hp1 NA19006.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19070.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0005 a0005c0005t0008 a0005c0005t0025 others(6): Show a0005c0005t0005 a0005c0005t0008 a0005c0005t0025 a0005c0005t0027 a0006c0006t0008 a0006c0006t0010 a0006c0006t0011 a0006c0006t0024 a0006c0006t0026	a0005c0005t0005g0003 a0005c0005t0005g0091 a0005c0005t0008g0003 others(11): Show a0005c0005t0005g0003 a0005c0005t0005g0091 a0005c0005t0008g0003 a0005c0005t0025g0092 a0005c0005t0027g0003 a0006c0006t0008g0039 a0006c0006t0008g0094 a0006c0006t0010g0023 a0006c0006t0010g0177 a0006c0006t0011g0044 a0006c0006t0011g0174 a0006c0006t0011g0176 a0006c0006t0024g0175 a0006c0006t0026g0093	29	316	0.0918	-94	c.126 others(111): Show c.1264+218_1264+311delTACACACACATGTGTGTGTACATATATG TATATACACACACACGTGTACATATATGTATACACACACATGTGTGTACA TATATGTATATACACA	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GFPT2_chr5_180295698_180358336	180296761	ACACACAC others(87): Show ACACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACACACA CGGAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG03195.hp1 others(1): Show HG02818.hp1 HG03098.hp2 HG03195.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0009 a0002c0008t0001 a0001c0001t0001 a0001c0001t0009 a0002c0008t0001	a0001c0001t0001g0176 a0001c0001t0001g0307 a0001c0001t0009g0169 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0307 a0001c0001t0009g0169 a0002c0008t0001g0226	4	410	0.0098	-94	c.47 others(105): Show c.4709_*4802delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3936		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180296861	ACACACAC others(87): Show ACACACACACACACACACACAAGGAAGTACAACACACACGTAAGGAAGTA CACACACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp1 others(58): Show HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG01516.hp1 HG02056.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02738.hp2 HG03130.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19056.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0001c0005 a0002c0002 others(1): Show a0001c0004 a0001c0005 a0002c0002 a0006c0016	a0001c0004t0001 a0001c0004t0008 a0001c0005t0003 others(5): Show a0001c0004t0001 a0001c0004t0008 a0001c0005t0003 a0001c0005t0007 a0002c0002t0002 a0002c0002t0013 a0002c0002t0017 a0006c0016t0002	a0001c0004t0001g0134 a0001c0004t0001g0224 a0001c0004t0001g0227 others(54): Show a0001c0004t0001g0134 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0001g0330 a0001c0004t0008g0029 a0001c0005t0003g0283 a0001c0005t0007g0267 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0040 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0063 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0126 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0166 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0191 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0222 a0002c0002t0002g0258 a0002c0002t0002g0272 a0002c0002t0002g0289 a0002c0002t0002g0316 a0002c0002t0013g0027 a0002c0002t0017g0357 a0006c0016t0002g0044	61	410	0.1488	-94	c.46 others(105): Show c.4609_*4702delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTGTGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3836		chr5	TogoVar
GGACT_chr13_100525180_100593789	100550323	CACACACA others(87): Show CACACACACACACACACACACACACACACACACCACTGGCCCTTCTAAGG AAACTGGATGCGCTGAATGAATTAAATCCGAGCCGATTATACTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	374	0.0027	-94	c.-10 others(113): Show c.-10-17816_-10-17723delAGAGTATAATCGGCTCGGATTTAATT CATTCAGCGCATCCAGTTTCCTTAGAAGGGCCAGTGGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GGT1_chr22_24598193_24633996	24605192	ATATATAA others(87): Show ATATATAATATGTATTATATTATATATTATATAATATGTATTATATTATA TATTATATAATATGTATTATATATTATATAATATGTATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03130.hp1 others(1): Show HG02572.hp1 HG02723.hp2 HG03130.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0248 a0002c0002t0001g0245 a0002c0002t0001g0246 others(1): Show a0001c0001t0001g0248 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247	4	341	0.0117	-94	c.-42 others(113): Show c.-429+1685_-429+1778delTATATATTATATAATATGTATTATAT TATATATTATATAATATGTATTATATATTATATAATATGTATTATATATT ATATAATATGTATTATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GLOD4_chr17_754330_787280	778498	TCTTAATT others(87): Show TCTTAATTAATTCCACTGCTTTATACTCATGAGAGTGCAGAGAAACAGTA TGTGTTCCCGACGCTCCTGAAGTTGCCTCCCTAATTTACTGCCTC	T T	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	418	0.0024	-94	c.140 others(109): Show c.140+103_140+196delGAGGCAGTAAATTAGGGAGGCAACTTCAGG AGCGTCGGGAACACATACTGTTTCTCTGCACTCTCATGAGTATAAAGCAG TGGAATTAATTAAG	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	2/8			chr17	TogoVar
GOLGA4_chr3_37238271_37371879	37257919	GTATATAT others(87): Show GTATATATGTATATATACATACATATATATGTATGTATATATGTATATAT ACATACATATATATATGTATGTATATATGTATATATACATACATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02559.hp2 others(1): Show HG01109.hp1 HG02055.hp2 HG02559.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0094 a0001c0005t0005g0095 a0001c0005t0005g0096 others(1): Show a0001c0005t0005g0094 a0001c0005t0005g0095 a0001c0005t0005g0096 a0001c0005t0005g0097	4	267	0.0150	-94	c.162 others(111): Show c.162+6447_162+6540delATATACATACATATATATGTATGTATAT ATGTATATATACATACATATATATATGTATGTATATATGTATATATACAT ACATATATATATGTAT	GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLM2_chr15_44283719_44420758	44288433	AGCGAGAG others(87): Show AGCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA AGAGAGCGAGCGAGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03098.hp2 HG03139.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146	3	145	0.0207	-94	c.-59 others(103): Show c.-596_-503delGCGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAAAGAGAGCGAGCGAGAGAGAGCGAGAGAGCGAGAGAGC GAGAGAGC	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding		285		chr15	TogoVar
GPC6_chr13_93221807_94413020	94105909	AAAAGGGT others(87): Show AAAAGGGTAGCTCCCACGACCAAGAGTTATCCAGCTATCCTACATTGGAA AGGGTAGCTCCCACGACCAAGAGTTATCCAGCTATCCTACATTGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	68	0.0147	-94	c.877 others(113): Show c.877+78239_877+78332delATCCTACATTGGAAAGGGTAGCTCCC ACGACCAAGAGTTATCCAGCTATCCTACATTGGAAAGGGTAGCTCCCACG ACCAAGAGTTATCCAGCT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR157_chr1_9095305_9134102	9123243	AATTTAAA others(87): Show AATTTAAATATATATTTAAATATATATATTTAAATATATATTTAAATTAA TATATATTTAATTTAAATATATATTAAAATATATATATTTAATTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0015 a0003c0007t0015	a0003c0007t0015g0241 a0003c0007t0015g0241	1	165	0.0061	-94	c.383 others(111): Show c.383+5308_383+5401delAAATTAAATATATATATTTTAATATATA TTTAAATTAAATATATATTAATTTAAATATATATTTAAATATATATATTT AAATATATATTTAAAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRM4_chr6_34013643_34151087	34044279	CACACACA others(87): Show CACACACACATAGACATACATACATACACATATATACACAGACACACATA CACACAGACATACATACATACACATATATACACAGACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	279	0.0036	-94	c.116 others(113): Show c.1169-3625_1169-3532delATGTGTGTGTCTGTGTATATATGTGT ATGTATGTATGTCTGTGTGTATGTGTGTCTGTGTATATATGTGTATGTAT GTATGTCTATGTGTGTGT	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	6/10			chr6	TogoVar
GSTM4_chr1_109651099_109666700	109654114	AAAGAAAG others(87): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01256.hp1 HG01258.hp1 others(10): Show HG00544.hp2 HG01256.hp1 HG01258.hp1 HG02257.hp1 HG03486.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18951.hp1 NA18999.hp1 NA19084.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0001t0001 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0005g0057	13	349	0.0372	-94	c.-22 others(105): Show c.-2275_-2182delAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA GAAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1984		chr1	TogoVar
GSTM4_chr1_109651099_109666700	109654131	AAGAAAGA others(87): Show AAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAGGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	362	0.0028	-94	c.-22 others(105): Show c.-2258_-2165delAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAA GGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1967		chr1	TogoVar
GULP1_chr2_188286874_188600926	188487065	ATGCAGAA others(87): Show ATGCAGAAATTTAAAAAATTCTGTTCCCTTCAATTTTTTATGAGAATGCT AAACTCTCTTTTCTATAAAGATAAAATGCTGGCAGACTTGTATTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	160	0.0063	-94	c.90+ others(109): Show c.90+3575_90+3668delGCAGAAATTTAAAAAATTCTGTTCCCTTCA ATTTTTTATGAGAATGCTAAACTCTCTTTTCTATAAAGATAAAATGCTGG CAGACTTGTATTTT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYG2_chrX_2823930_2887818	2845459	ATATACAC others(87): Show ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0055 a0002c0002t0005g0055	1	314	0.0032	-94	c.149 others(111): Show c.149+2110_149+2203delCACGTGTGTATGTATATTTATATACACG TGTGTATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTG TGTATGTATATTTATA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN2_chr19_584881_622159	602266	CCTCCTGC others(87): Show CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0004 a0001c0084t0004	a0001c0084t0004g0101 a0001c0084t0004g0101	1	400	0.0025	-94	c.633 others(111): Show c.633-1223_633-1130delCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239130455	GCCTTAAG others(87): Show GCCTTAAGACGCTGGTGGCATGCTCTGTTTCAGGATGCTAGAAAGATCTG TGACAGGGCCACCTCCACGAGGCATACACATCTCCCTCCACCTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(15): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01975.hp2 HG02132.hp2 HG02602.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0012 a0001c0027 a0001c0028	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0009 a0001c0002t0012 a0001c0002t0023 a0001c0002t0058 a0001c0006t0011 a0001c0006t0048 a0001c0008t0001 a0001c0012t0030 a0001c0012t0050 a0001c0027t0009 a0001c0028t0013	a0001c0001t0002g0195 a0001c0001t0003g0141 a0001c0001t0003g0147 others(15): Show a0001c0001t0002g0195 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0002t0001g0110 a0001c0002t0009g0100 a0001c0002t0009g0170 a0001c0002t0009g0172 a0001c0002t0009g0184 a0001c0002t0012g0242 a0001c0002t0023g0191 a0001c0002t0058g0142 a0001c0006t0011g0157 a0001c0006t0048g0062 a0001c0008t0001g0187 a0001c0012t0030g0225 a0001c0012t0050g0153 a0001c0027t0009g0148 a0001c0028t0013g0215	18	240	0.0750	-94	c.129 others(113): Show c.1294+3696_1295-3762delACAGGTGGAGGGAGATGTGTATGCCT CGTGGAGGTGGCCCTGTCACAGATCTTTCTAGCATCCTGAAACAGAGCAT GCCACCAGCGTCTTAAGG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	11/26			chr2	TogoVar
HINT3_chr6_125951770_125985244	125962159	TACACATA others(87): Show TACACATATATATATATATATATATATACACATATATATATATATATATA TACACATATATATATATATATATATACACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0175 a0001c0001t0003g0089 a0001c0001t0003g0175	2	266	0.0075	-94	c.202 others(111): Show c.202-4724_202-4631delCATATATATATATATATATATATACACA TATATATATATATATATATACACATATATATATATATATATATACACATA TATATATATACACACA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41531538	GGGGAGAT others(87): Show GGGGAGATGGAGGACAGGAGAGATGGAAGACAGGGGAGATGGAGGACAGG AGAGATGGAGGACAGGGGAGATGGAGGACAGGAGAGATGGAAGAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 NA21309.hp2 HG01243.hp2 HG02896.hp2 NA21309.hp2	a0001 a0023 a0033 a0001 a0023 a0033	a0001c0001 a0023c0030 a0033c0020 a0001c0001 a0023c0030 a0033c0020	a0001c0001t0077 a0023c0030t0025 a0033c0020t0008 a0001c0001t0077 a0023c0030t0025 a0033c0020t0008	a0001c0001t0077g0004 a0023c0030t0025g0090 a0033c0020t0008g0069 a0001c0001t0077g0004 a0023c0030t0025g0090 a0033c0020t0008g0069	3	134	0.0224	-94	c.520 others(113): Show c.5208-6722_5208-6629delGTCTTCCATCTCTCCTGTCCTCCATC TCCCCTGTCCTCCATCTCTCCTGTCCTCCATCTCCCCTGTCTTCCATCTC TCCTGTCCTCCATCTCCC	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IMPA1_chr8_81651914_81691325	81685050	CTATACAT others(87): Show CTATACATAAGTATATTTAGATATATATACTATAAATAAGTATATTTAGA TACTATATATAGTATACATTAAGTATATTTAGATACTATATATAG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0221 a0001c0001t0011g0221	1	378	0.0026	-94	c.-25 others(111): Show c.-25+1108_-25+1201delCTATATATAGTATCTAAATATACTTAAT GTATACTATATATAGTATCTAAATATACTTATTTATAGTATATATATCTA AATATACTTATGTATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP4B_chr4_142018160_142851301	142245837	TATATATG others(87): Show TATATATGTGTATGTATACATATATGTGTATGTATACATATATATGTGTA TGTATACATATATGTGTATGTATACATATATATGTGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG02809.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0041 a0001c0001t0026g0067 a0001c0001t0004g0041 a0001c0001t0026g0067	2	90	0.0222	-94	c.689 others(111): Show c.689-7920_689-7827delGTATACATACACATATATATGTATACAT ACACATATATGTATACATACACATATATATGTATACATACACATATATGT ATACATACACATATAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25			chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154357825	TATAATAT others(87): Show TATAATATATATAATATATATATAAAATATATATATAAAATATATATATA TATAAAATATATATATATAATATATATATAAAATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0146 a0001c0001t0007g0146	1	262	0.0038	-94	c.-13 others(105): Show c.-1309_-1216delTATATATATATATTTTATATATATATTATATATA TATATTTTATATATATATATATTTTATATATATATTTTATATATATATTA TATATATTAT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1023		chr6	TogoVar
ITGB2_chr21_44880953_44925899	44916974	TCTAGTGC others(87): Show TCTAGTGCAAAAGGTAAATGGTAATCTTCATCTCTAAAGAGATCTTAGAA ATTAATAACAAAAAGGTAAATACTCCATTCAAGGATGTTTCAAGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	442	0.0023	-94	c.-4+ others(109): Show c.-4+3753_-4+3846delCCTTGAAACATCCTTGAATGGAGTATTTAC CTTTTTGTTATTAATTTCTAAGATCTCTTTAGAGATGAAGATTACCATTT ACCTTTTGCACTAG	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
KCNIP4_chr4_20723606_21953772	21714786	ATTATTTT others(87): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	66	0.0152	-94	c.61+ others(113): Show c.61+233691_61+233784delATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21714995	TTTTATTT others(87): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	80	0.0125	-94	c.61+ others(113): Show c.61+233482_61+233575delTAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21757179	GAAGGAAG others(87): Show GAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	79	0.0127	-94	c.61+ others(113): Show c.61+191298_61+191391delTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178759363	CTCCAAGA others(87): Show CTCCAAGAGGATATATATATATATATATCTCTCCAAGAGGATATATATAT ATATATATATCTCTCCAAGAGGATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp1 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0010 a0001c0001t0002g0034	2	232	0.0086	-94	c.-67 others(113): Show c.-67-47977_-67-47884delCAAGAGGATATATATATATATATATC TCTCCAAGAGGATATATATATATATATATATCTCTCCAAGAGGATATATA TATATATATATATATATC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760126	ATATATAT others(87): Show ATATATATATATATATCCAAGAGGATATATCTATATATATATATATATCC AAGAGGATATATCTATATATATATATATATCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	232	0.0043	-94	c.-67 others(113): Show c.-67-47208_-67-47115delTATATATCCAAGAGGATATATCTATA TATATATATATATCCAAGAGGATATATCTATATATATATATATATCCAAG AGGATATATCTATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114379477	TTTATAGA others(87): Show TTTATAGAATATATTATATAACATATTATATATTTATAGAATATATTATA TAACATATTATATATTATAGAATATATTATATAACATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01109.hp1 others(4): Show HG00642.hp1 HG00738.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0090 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109	7	238	0.0294	-94	c.121 others(115): Show c.1218+15511_1218+15604delATAGAATATATTATATAACATATT ATATATTATAGAATATATTATATAACATATTATATATTATAGAATATATT ATATAACATATTATATATTT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF4A_chrX_70285104_70425886	70373554	ATACGTAT others(87): Show ATACGTATATATATACATATATACGTGTATATATATACGTATATATATAC ATATATACGTGTATATATATACGTATATATATACATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01081.hp2 others(43): Show HG00558.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02273.hp1 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG03453.hp2 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18953.hp1 NA18960.hp1 NA18966.hp1 NA18974.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp1 NA19063.hp1 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0013 a0001c0001 a0001c0003 a0006c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0097 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0046 a0001c0003t0005g0023 a0006c0013t0001g0158	46	256	0.1797	-94	c.167 others(111): Show c.1675-594_1675-501delCGTATATATATACATATATACGTGTATA TATATACGTATATATATACATATATACGTGTATATATATACGTATATATA TACATATATACGTGTA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373565	TATACATA others(87): Show TATACATATATACGTGTATATATATACGTATATATATACATATATACGTG TATATATATACGTATATATATACATATATACGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	256	0.0039	-94	c.167 others(111): Show c.1675-585_1675-492delATACATATATACGTGTATATATATACGT ATATATATACATATATACGTGTATATATATACGTATATATATACATATAT ACGTGTATATATATAC	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30			chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373569	CATATATA others(87): Show CATATATACGTGTATATATATACGTATATATATACATATATACGTGTATA TATATACGTATATATATACATATATACGTGTATATATATACGTAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	248	0.0040	-94	c.167 others(111): Show c.1675-573_1675-480delGTGTATATATATACGTATATATATACAT ATATACGTGTATATATATACGTATATATATACATATATACGTGTATATAT ATACGTATATATATAC	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373672	ATATATAC others(87): Show ATATATACGTGTATATATATACGTATATATATACACATATACGTGTATAT ATATACGTATATATATACATATATACGTGTATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	257	0.0039	-94	c.167 others(111): Show c.1675-472_1675-379delCGTGTATATATATACGTATATATATACA CATATACGTGTATATATATACGTATATATATACATATATACGTGTATATA TATATATACGTATATA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLHL23_chr2_169728832_169756878	169753066	AAAAAATA others(87): Show AAAAAATATATCTATCTATCTATCTATCTATATATATATATATATCTATA TATATATATATCTATATATATATATCTATATATATATATCTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(26): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01978.hp2 HG02155.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp2 NA18747.hp1 NA18945.hp1 NA18957.hp2 NA18963.hp1 NA18999.hp1 NA19009.hp2 NA19074.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0033 a0001c0001t0048 others(19): Show a0001c0001t0029 a0001c0001t0033 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134	a0001c0001t0029g0157 a0001c0001t0029g0293 a0001c0001t0029g0295 others(25): Show a0001c0001t0029g0157 a0001c0001t0029g0293 a0001c0001t0029g0295 a0001c0001t0033g0010 a0001c0001t0033g0292 a0001c0001t0048g0037 a0001c0001t0048g0283 a0001c0001t0049g0010 a0001c0001t0049g0296 a0001c0001t0050g0260 a0001c0001t0050g0306 a0001c0001t0116g0288 a0001c0001t0117g0291 a0001c0001t0118g0271 a0001c0001t0119g0037 a0001c0001t0120g0010 a0001c0001t0121g0219 a0001c0001t0122g0289 a0001c0001t0123g0220 a0001c0001t0124g0272 a0001c0001t0125g0013 a0001c0001t0126g0044 a0001c0001t0128g0013 a0001c0001t0130g0013 a0001c0001t0131g0284 a0001c0001t0132g0290 a0001c0001t0133g0294 a0001c0001t0134g0221	29	398	0.0729	-94	c.33 others(105): Show c.3335_*3428delAAAAATATATCTATCTATCTATCTATCTATATAT ATATATATATCTATATATATATATATCTATATATATATATCTATATATAT ATATCTATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1189		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169753068	AAAATATA others(87): Show AAAATATATCTATCTATCTATCTATCTATATATATATATATATCTATATA TATATATATCTATATATATATATCTATATATATATATCTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG03471.hp1 others(1): Show HG02559.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0105 a0001c0001t0031 a0001c0002t0105	a0001c0001t0031g0072 a0001c0001t0031g0073 a0001c0001t0031g0074 others(1): Show a0001c0001t0031g0072 a0001c0001t0031g0073 a0001c0001t0031g0074 a0001c0002t0105g0058	4	364	0.0110	-94	c.33 others(105): Show c.3337_*3430delAAATATATCTATCTATCTATCTATCTATATATAT ATATATATCTATATATATATATATCTATATATATATATCTATATATATAT ATCTATATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1191		chr2	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743505	AATATATA others(87): Show AATATATATACGAATATATATACGAATATATATACGTATATATATACGTA TATATACACGAATATATATACGTATATATACGAATATATACGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	368	0.0027	-94	c.33 others(105): Show c.3352_*3445delATACGTATATATTCGTATATATACGTATATATAT TCGTGTATATATACGTATATATATACGTATATATATTCGTATATATATTC GTATATATAT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		3288		chr21	TogoVar
LAT2_chr7_74205006_74234834	74214481	TATGAAAA others(87): Show TATGAAAATATATATATAAATATATATATATGAAAATATATATAAATATA TATATGAATATATATATATATATATGAAAATATATATATATGAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	342	0.0029	-94	c.-21 others(111): Show c.-218-338_-218-245delGAAAATATATATATAAATATATATATAT GAAAATATATATAAATATATATATGAATATATATATATATATATGAAAAT ATATATATATGAAAAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	21034715	CACCTGGG others(87): Show CACCTGGGGCCGCTGCCGAGCCTACACAGCTAGGCTCGTTGCTGGGGGAG GATACAGAGGGGAGAAGAATTTCCTGCCGTTTCCCACAGTACAGG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0093 a0006c0013t0002g0093	1	314	0.0032	-94	c.342 others(113): Show c.342+10876_342+10969delCCTGTACTGTGGGAAACGGCAGGAAA TTCTTCTCCCCTCTGTATCCTCCCCCAGCAACGAGCCTAGCTGTGTAGGC TCGGCAGCGGCCCCAGGT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LCMT2_chr15_43318649_43335573	43324047	CTGCTTAC others(87): Show CTGCTTACTTACATGTGGGATGACAGAATTCTTGTTTACTCATAATTATT GACATCCAAGGAAATCTCAGCCTACTCTAAAGCTGATTATAAATT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0000 a0001c0002t0048g0000	1	408	0.0025	-94	c.42 others(105): Show c.4288_*4381delAATTTATAATCAGCTTTAGAGTAGGCTGAGATTT CCTTGGATGTCAATAATTATGAGTAAACAAGAATTCTGTCATCCCACATG TAAGTAAGCA	LCMT2	ENSG00000168806.8	transcript	ENST00000305641.7	protein_coding	1/1	4288		chr15	TogoVar
LCN15_chr9_136754634_136769518	136769338	GCCCCCCC others(87): Show GCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCACC CCATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCCATGCACTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	172	0.0058	-94	c.-49 others(105): Show c.-4944_-4851delAAGTGCATGGGGGGGTGGCGGGGTGGCGGGGGGG GCAGTGCATGGGGTGGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGGGGT GGCGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4821		chr9	TogoVar
LDHAL6A_chr11_18450856_18484601	18467938	CACACACA others(87): Show CACACACATATATATATACGTATATATATACGTATATATATACGTATATA TATGCATATATATACGTATATATATACATATATATACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0008 a0001c0001t0070g0008	1	332	0.0030	-94	c.418 others(111): Show c.418+2130_418+2223delCACACATATATATATACGTATATATATA CGTATATATATACGTATATATATGCATATATATACGTATATATATACATA TATATACGTATATATA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LHFPL6_chr13_39337892_39608193	39352847	ATAAATGT others(87): Show ATAAATGTATATATATGTGTATATATATATATAAATGTATATATATGTGT ATATATATATAAATGTATATATATATAAATGTATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18993.hp1 HG03942.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0173 a0001c0001t0002g0188	2	236	0.0085	-94	c.485 others(111): Show c.485-8887_485-8794delCACACATATATATACATTTATATATATA TACATTTATATATATATACACATATATATACATTTATATATATATATACA CATATATATACATTTA	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LOC100505841_chr5_122155176_122187658	122157071	TAAAGCTA others(87): Show TAAAGCTACAAATGTTCTTCTCTGGCTAAGTATCTTATTCTTTACAGGCA AAACTCACAGTGGGAAGAGCATAATCAGAAAAACACATGAGGGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	336	0.0030	-94	c.-31 others(105): Show c.-3197_-3104delAAAGCTACAAATGTTCTTCTCTGGCTAAGTATCT TATTCTTTACAGGCAAAACTCACAGTGGGAAGAGCATAATCAGAAAAACA CATGAGGGCA	LOC100505841	ENSG00000250803.7	transcript	ENST00000509403.7	protein_coding		3104		chr5	TogoVar
LOC128462377_chr16_89312046_89423292	89390047	AAGAAGAT others(87): Show AAGAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACAGACAGAG AAGATCACTGGGGCGAACACCGAGTGTGGCGTGGAGCACAGACAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	136	0.0074	-94	c.9+2 others(109): Show c.9+28143_9+28236delCTGTCTGTGCTCCACGCCACACTCGGTGTT CGCCCCAGTGATCTTCTCTGTCTGTGCTCCCCGCCACACTCGGTGTTCGC CCCAGTGATCTTCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar

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