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
SYT17_chr16_19163240_19273332	19252403	ACATATAT others(52): Show ACATATATATATACATATATATATACATATATATACATATATATACACAT ATATACATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0050 a0001c0002t0014g0050	1	324	0.0031	-59	c.122 others(80): Show c.1229-14476_1229-14418delCATATATATATACATATATATATA CATATATATACATATATATACACATATATACATAT	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7			chr16	TogoVar
SYTL3_chr6_158645054_158769871	158701186	GTGTAGAT others(52): Show GTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTG GGGTGTAGAT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	292	0.0034	-59	c.395 others(76): Show c.395-6043_395-5985delTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGAT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17			chr6	TogoVar
TAB3_chrX_30822442_30894254	30868508	ATATATAG others(52): Show ATATATAGCTTATATATATATATATATAGCTTATATATATATATATATAT ATATATAGCT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01070.hp2 others(2): Show HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0270 a0001c0001t0005g0005 a0001c0001t0005g0230 others(1): Show a0001c0001t0003g0270 a0001c0001t0005g0005 a0001c0001t0005g0230 a0001c0001t0005g0231	5	302	0.0166	-59	c.-27 others(77): Show c.-279-1018_-279-960delAGCTATATATATATATATATATATATA TAAGCTATATATATATATATATAAGCTATATA	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TAPT1_chr4_16155505_16231471	16228675	AAAAAAAA others(52): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAGAAGAGGAAG CAGCCGTGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0015 a0004c0006t0015	a0004c0006t0015g0142 a0004c0006t0015g0142	1	382	0.0026	-59	c.-22 others(70): Show c.-2277_-2219delGGCACGGCTGCTTCCTCTTCTTCTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	TAPT1	ENSG00000169762.17	transcript	ENST00000405303.7	protein_coding		2205		chr4	TogoVar
TECTB_chr10_112278400_112310038	112300260	AAGAAAGA others(52): Show AAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	438	0.0023	-59	c.907 others(74): Show c.907+706_907+764delGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAA	TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
TERT_chr5_1248167_1300068	1252329	GAGATGAG others(52): Show GAGATGAGACTGGGAGATGGTAAGAGGATGACAGATGAGACTGGGAGATA AGAGGAAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(46): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp1 HG01978.hp2 HG02080.hp1 HG02109.hp1 HG02273.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18963.hp2 NA18969.hp2 NA18985.hp1 NA19002.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0013t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 others(45): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0040 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0005t0001g0140 a0001c0013t0001g0108	49	392	0.1250	-59	c.13 others(70): Show c.1340_*1398delGTCTTCCTCTTATCTCCCAGTCTCATCTGTCATC CTCTTACCATCTCCCAGTCTCATCT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding		837		chr5	TogoVar
TERT_chr5_1248167_1300068	1273678	CACGACCG others(52): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03579.hp2 others(2): Show HG02280.hp1 HG02976.hp1 HG03579.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0151 a0001c0005t0001g0003 a0001c0005t0001g0138 others(1): Show a0001c0001t0001g0151 a0001c0005t0001g0003 a0001c0005t0001g0138 a0001c0005t0001g0139	5	392	0.0128	-59	c.228 others(78): Show c.2287-1457_2287-1399delTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS3_chr1_155190588_155212897	155191100	GCGGGCGC others(52): Show GCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	-59	c.46 others(70): Show c.4682_*4740delAGCCCACGGTGTCACCTCGGCCCCGGACACCAGG CCCGCCCCGGGCTCCACCGCGCCCG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4487		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191822	GGGGGGCG others(52): Show GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	298	0.0034	-59	c.39 others(70): Show c.3960_*4018delAAGCCCACGGTGTCACCTCGGCCCCGGACACCAG GCCGGCCCCGGGCTCCACCGCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		3765		chr1	TogoVar
TIAM2_chr6_154990315_155262723	155029066	ATACTATA others(52): Show ATACTATATATACTGTTATATATACACTGTATATACTATGTGTTATATAT ACACTGTATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp1 NA19240.hp1 HG02818.hp2 NA18522.hp1 NA19240.hp1	a0001 a0005 a0024 a0001 a0005 a0024	a0001c0005 a0005c0012 a0024c0037 a0001c0005 a0005c0012 a0024c0037	a0001c0005t0016 a0005c0012t0007 a0024c0037t0012 a0001c0005t0016 a0005c0012t0007 a0024c0037t0012	a0001c0005t0016g0197 a0005c0012t0007g0001 a0024c0037t0012g0184 a0001c0005t0016g0197 a0005c0012t0007g0001 a0024c0037t0012g0184	3	230	0.0130	-59	c.-20 others(80): Show c.-209+33581_-209+33639delATATACTGTTATATATACACTGTA TATACTATGTGTTATATATACACTGTATGTACTAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM114_chr16_8564500_8595511	8564860	AATGAATG others(52): Show AATGAATGAGGGAGGGAGGGAGTGAATGAGTGAGTGAGTGAATGAGTGAA TGAGTGACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	416	0.0024	-59	c.48 others(70): Show c.4854_*4912delCAGTCACTCATTCACTCATTCACTCACTCACTCA TTCACTCCCTCCCTCCCTCATTCAT	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		4639		chr16	TogoVar
TMEM132C_chr12_128262170_128712911	128292646	GTTCCTAG others(52): Show GTTCCTAGATGAGGTATTCATAAGTGTCTGTTAAGTGTACTTAGTACCTA GGTACCTAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01243.hp1 others(31): Show HG00558.hp1 HG00609.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG04228.hp2 NA18941.hp1 NA18959.hp1 NA18959.hp2 NA18971.hp1 NA19043.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0015 a0022 a0023 a0030	a0001c0001 a0002c0004 a0002c0006 others(24): Show a0001c0001 a0002c0004 a0002c0006 a0002c0037 a0002c0038 a0002c0040 a0002c0046 a0002c0052 a0003c0070 a0003c0072 a0004c0007 a0004c0008 a0005c0012 a0005c0035 a0006c0024 a0008c0002 a0008c0028 a0008c0078 a0009c0003 a0010c0015 a0011c0058 a0011c0060 a0012c0055 a0015c0088 a0022c0041 a0023c0039 a0030c0076	a0001c0001t0001 a0001c0001t0006 a0002c0004t0003 others(25): Show a0001c0001t0001 a0001c0001t0006 a0002c0004t0003 a0002c0006t0004 a0002c0037t0002 a0002c0038t0002 a0002c0040t0005 a0002c0046t0002 a0002c0052t0002 a0003c0070t0002 a0003c0072t0007 a0004c0007t0002 a0004c0008t0010 a0005c0012t0004 a0005c0035t0003 a0006c0024t0002 a0008c0002t0001 a0008c0028t0001 a0008c0078t0001 a0009c0003t0001 a0010c0015t0001 a0011c0058t0001 a0011c0060t0001 a0012c0055t0001 a0015c0088t0006 a0022c0041t0001 a0023c0039t0001 a0030c0076t0002	a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0006g0120 others(31): Show a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0006g0120 a0001c0001t0006g0130 a0002c0004t0003g0052 a0002c0006t0004g0105 a0002c0037t0002g0022 a0002c0038t0002g0014 a0002c0040t0005g0097 a0002c0046t0002g0095 a0002c0052t0002g0119 a0003c0070t0002g0083 a0003c0072t0007g0118 a0004c0007t0002g0096 a0004c0008t0010g0006 a0005c0012t0004g0108 a0005c0012t0004g0124 a0005c0035t0003g0017 a0006c0024t0002g0141 a0008c0002t0001g0025 a0008c0002t0001g0104 a0008c0028t0001g0140 a0008c0078t0001g0094 a0009c0003t0001g0023 a0009c0003t0001g0061 a0009c0003t0001g0110 a0010c0015t0001g0056 a0011c0058t0001g0142 a0011c0060t0001g0109 a0012c0055t0001g0009 a0015c0088t0006g0116 a0022c0041t0001g0129 a0023c0039t0001g0169 a0030c0076t0002g0020	34	170	0.2000	-59	c.85+ others(76): Show c.85+25175_85+25233delTTCATAAGTGTCTGTTAAGTGTACTTAG TACCTAGGTACCTAAATTCCTAGATGAGGTA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607958	GACAGACC others(52): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 NA19030.hp2 HG02886.hp2 HG02895.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0002g0013 a0001c0001t0005g0011 a0001c0001t0001g0012 a0001c0001t0002g0013 a0001c0001t0005g0011	3	222	0.0135	-59	c.323 others(78): Show c.323-55926_323-55868delTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608082	GACAGACC others(52): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0006 a0001c0001t0018g0006	1	222	0.0045	-59	c.323 others(78): Show c.323-56050_323-55992delTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608175	GACAGACC others(52): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	222	0.0045	-59	c.323 others(78): Show c.323-56143_323-56085delTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608237	GACAGACC others(52): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	222	0.0045	-59	c.323 others(78): Show c.323-56205_323-56147delTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608330	GACAGACC others(52): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	222	0.0045	-59	c.323 others(78): Show c.323-56298_323-56240delTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM181_chr6_158555091_158640429	158571356	AAAGTGCT others(52): Show AAAGTGCTGGGATTATAGGCGTGATCTGCCCGCCTTGGCCTTGTGATCTG CCCGCCTTGG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	334	0.0030	-59	c.9-2 others(72): Show c.9-2063_9-2005delAAGTGCTGGGATTATAGGCGTGATCTGCCCGC CTTGGCCTTGTGATCTGCCCGCCTTGG	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16			chr6	TogoVar
TMEM221_chr19_17430509_17453668	17452411	GAAACATA others(52): Show GAAACATACATGAAACCCCACAATAAGGGGACACTTACCTAAATGGCCAA CATTCATTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	422	0.0024	-59	c.-40 others(70): Show c.-4008_-3950delGCAATGAATGTTGGCCATTTAGGTAAGTGTCCCC TTATTGTGGGGTTTCATGTATGTTT	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding		3744		chr19	TogoVar
TNNT3_chr11_1914703_1943702	1929825	CCAAGTGA others(52): Show CCAAGTGAGTGTGGGGTCCTGGCAGGCCCGCTGCTGAGTGTGTTCTGGGG TGGGGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03486.hp1 HG03688.hp1 others(2): Show HG02602.hp1 HG03486.hp1 HG03688.hp1 NA20905.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0027 a0002c0003t0001g0037 others(2): Show a0002c0003t0001g0017 a0002c0003t0001g0027 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039	5	125	0.0400	-59	c.125 others(72): Show c.125+26_125+84delGCTGCTGAGTGTGTTCTGGGGTGGGGGTGGTC AAGTGAGTGTGGGGTCCTGGCAGGCCC	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
TNNT3_chr11_1914703_1943702	1929884	TCAAGTGA others(52): Show TCAAGTGAGTGTGGGGTCCTGGCAGGCCCAGTGCCGAGTGTGTTCTGGGG TGGCGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	125	0.0080	-59	c.125 others(73): Show c.125+87_125+145delTGCCGAGTGTGTTCTGGGGTGGCGGTGGCCA AGTGAGTGTGGGGTCCTGGCAGGCCCAG	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
TNNT3_chr11_1914703_1943702	1940305	AACACACA others(52): Show AACACACACACACACACACACACGCAGAAACTAACCAGAGTGAGACCCTG TCTCAAACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA19043.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	125	0.0160	-59	c.18 others(70): Show c.1814_*1872delACACACACACACACACACACACGCAGAAACTAAC CAGAGTGAGACCCTGTCTCAAACAC	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		1604		chr11	TogoVar
TNN_chr1_175062833_175153075	175143228	TGAGATGA others(52): Show TGAGATGAGAATGCACATGCGAAGAAGATCGCTAAACTTAGAGCTGAGAT ATAAATGTAA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0225 a0004c0008t0002g0225	1	374	0.0027	-59	c.359 others(78): Show c.3596-1156_3596-1098delGATGAGAATGCACATGCGAAGAAGAT CGCTAAACTTAGAGCTGAGATATAAATGTAAGA	TNN	ENSG00000120332.17	transcript	ENST00000239462.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
TOP1MT_chr8_143304324_143339880	143308232	GGAGGGCA others(52): Show GGAGGGCAGCAGAGGGTCCCGTGTGGCAGAGAAGAGGGCGGCAGAGGGTC CTGCGTGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(116): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0018 others(1): Show a0001 a0010 a0018 a0019	a0001c0001 a0001c0008 a0010c0014 others(2): Show a0001c0001 a0001c0008 a0010c0014 a0018c0025 a0019c0020	a0001c0001t0001 a0001c0008t0001 a0010c0014t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0010c0014t0001 a0018c0025t0001 a0019c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(103): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0008t0001g0220 a0001c0008t0001g0364 a0001c0008t0001g0365 a0010c0014t0001g0312 a0010c0014t0001g0313 a0018c0025t0001g0339 a0019c0020t0001g0358	119	430	0.2767	-59	c.11 others(70): Show c.1150_*1208delTGCCACGCAGGACCCTCTGCCGCCCTCTTCTCTG CCACACGGGACCCTCTGCTGCCCTC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1091		chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930665	CCGGGGTT others(52): Show CCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCAGGG GTTAAGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	466	0.0022	-59	c.48 others(70): Show c.4867_*4925delCCTCCTTAACCCCTGGCCTCCCTAACCCCAGCCT CCCTACCCTGGCCTCCCTAACCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4704		chr11	TogoVar
TPD52L1_chr6_125148773_125269407	125172098	CCCTTTCT others(52): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	320	0.0031	-59	c.19+ others(76): Show c.19+18129_19+18187delCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6			chr6	TogoVar
TRDN_chr6_123211339_123641950	123266585	ATATAATA others(52): Show ATATAATATATATATTATAATATGTATTATATATAATATATATTATAATA TGTATTATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0152 a0004c0007t0008g0152	1	152	0.0066	-59	c.178 others(78): Show c.1783+1063_1783+1121delATATAATACATATTATAATATATATT ATATATAATACATATTATAATATATATATTATA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	32/40			chr6	TogoVar
TRIM46_chr1_155168849_155189970	155189186	CTCTGTTT others(52): Show CTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGA CGGCCTGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	348	0.0029	-59	c.49 others(70): Show c.4997_*5055delTCTGTTTTAAATATACACCGTGGGCTGCGGGCGC GGTGGAGCCCGGGGACGGCCTGGTG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4217		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189519	GCGGTGGA others(52): Show GCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA18981.hp2 NA18993.hp2 HG01978.hp1 NA18981.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	3	348	0.0086	-59	c.53 others(70): Show c.5330_*5388delCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGC CGAGGTGACACCGTGGGCTGCTCTC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4550		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189573	GCTCTCGC others(52): Show GCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGAC ACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG03927.hp2 NA19005.hp2 others(1): Show HG00639.hp1 HG03927.hp2 NA19005.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0068 a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0068	4	348	0.0115	-59	c.53 others(70): Show c.5384_*5442delCTCTCGCGGTGGAGCCCGGGGCCGGCCTGCTCTC CGGGGCCGAGGTGACACCGTGGGCT	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4604		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189873	GCGGGCGC others(52): Show GCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGGGGCCGAGGTGAC ACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00597.hp1 others(32): Show HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG01099.hp1 HG01123.hp2 HG01257.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02132.hp2 HG02300.hp2 HG02897.hp2 HG03098.hp2 HG03225.hp2 HG04115.hp2 HG04199.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18964.hp2 NA18979.hp2 NA18981.hp2 NA18998.hp2 NA19005.hp1 NA19011.hp2 NA19067.hp2 NA19077.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0004t0001g0019 a0001c0006t0001g0046 a0003c0007t0001g0014	35	348	0.1006	-59	c.56 others(70): Show c.5684_*5742delCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTC CGGGGCCGAGGTGACACCGTGGGCT	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4904		chr1	TogoVar
TRIT1_chr1_39833110_39888504	39833654	TTATAGTT others(52): Show TTATAGTTCAGTAATGTTAAGTGTATTACAGTATGAAAGTGTATTAAGTA GTTTTAAGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02965.hp2 others(2): Show HG02280.hp1 HG02559.hp2 HG02965.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 others(2): Show a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204	5	378	0.0132	-59	c.80 others(70): Show c.8031_*8089delCGCTTAAAACTACTTAATACACTTTCATACTGTA ATACACTTAACATTACTGAACTATA	TRIT1	ENSG00000043514.17	transcript	ENST00000316891.10	protein_coding		4455		chr1	TogoVar
TRPM2_chr21_44348621_44447644	44395838	GGGTGTGG others(52): Show GGGTGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGG GGTGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18966.hp1 NA20805.hp2 HG01081.hp1 NA18966.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0004g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0004g0033	3	44	0.0682	-59	c.193 others(76): Show c.1932+288_1932+346delGGTGTGGAGGGCTGTGGAGGATGTGGAG GGGTGTGGAGGGCTGTGGAGGGGTGTGGAGA	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31			chr21	TogoVar
TRPV4_chr12_109778089_109838398	109808762	TCCATCCA others(52): Show TCCATCCATCCATCACTCATCTATCCATCTACCTATCCACCCACTCATCC ATCTATCCAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0162 a0001c0020t0001g0162	1	344	0.0029	-59	c.387 others(74): Show c.387-353_387-295delGTGGATAGATGGATGAGTGGGTGGATAGGT AGATGGATAGATGAGTGATGGATGGATGG	TRPV4	ENSG00000111199.12	transcript	ENST00000261740.7	protein_coding	2/15			chr12	TogoVar
TSPAN32_chr11_2297013_2323204	2300166	GGGGTGGG others(52): Show GGGGTGGGCAGGGGTGTGTGAGGTTGGGCAGGGGCGTGTGGGGTGGGCAG GGGTGTGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01175.hp2 others(22): Show HG00323.hp2 HG00558.hp1 HG01175.hp2 HG01257.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02698.hp1 HG03834.hp2 NA18952.hp2 NA18969.hp2 NA18977.hp1 NA18984.hp1 NA18992.hp2 NA18994.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0282 a0001c0001t0001g0283 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0296	25	412	0.0607	-59	c.-19 others(70): Show c.-1983_-1925delGGGTGGGCAGGGGTGTGTGAGGTTGGGCAGGGGC GTGTGGGGTGGGCAGGGGTGTGTGA	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding		1846		chr11	TogoVar
TSPAN8_chr12_71120096_71162999	71135216	GAGGAGGA others(52): Show GAGGAGGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGTAAGAAGAG GAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(182): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02896.hp2 HG03017.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0002c0002 a0004c0005 others(1): Show a0001c0003 a0002c0002 a0004c0005 a0005c0007	a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 others(5): Show a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0004c0005t0002 a0004c0005t0005 a0005c0007t0002	a0001c0003t0001g0003 a0001c0003t0001g0013 a0001c0003t0001g0015 others(139): Show a0001c0003t0001g0003 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0075 a0001c0003t0001g0109 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0162 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0003g0065 a0002c0002t0001g0239 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0049 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0144 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0222 a0002c0002t0002g0294 a0002c0002t0006g0292 a0004c0005t0002g0037 a0004c0005t0002g0069 a0004c0005t0002g0129 a0004c0005t0002g0134 a0004c0005t0002g0237 a0004c0005t0002g0238 a0004c0005t0002g0291 a0004c0005t0005g0234 a0005c0007t0002g0140 a0005c0007t0002g0141	185	414	0.4469	-59	c.445 others(76): Show c.445-2451_445-2393delTCTCCTCCTCCTCTTCTTACCTCCTCCT CCTCCTCCTCCTCCTCCTTCTTCTTCCTCCT	TSPAN8	ENSG00000127324.9	transcript	ENST00000247829.8	protein_coding	6/8			chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44534256	GGGGCTGG others(52): Show GGGGCTGGTGTGTGAGGGGTGGGGCTTGTGTGAGGGGGCAGGGCTGGTGT GTGTGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	294	0.0034	-59	c.304 others(74): Show c.304-392_304-334delTGCCCCACACACACCAGCCCTGCCCCCTCA CACAAGCCCCACCCCTCACACACCAGCCC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	2/11			chr21	TogoVar
TTC9C_chr11_62723486_62743636	62740343	CCTAAGTG others(52): Show CCTAAGTGAACATTTTAAATTTTAATAGGTGCTTATCTATAGTATCCTCA TTTCTCTTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-59	c.19 others(70): Show c.1962_*2020delCTAAGTGAACATTTTAAATTTTAATAGGTGCTTA TCTATAGTATCCTCATTTCTCTTAA	TTC9C	ENSG00000162222.14	transcript	ENST00000316461.9	protein_coding		1708		chr11	TogoVar
TUBGCP2_chr10_133273635_133313872	133291965	CGGGGAGC others(52): Show CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCC CCATGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 NA20129.hp2 HG02451.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0071 a0001c0002t0003g0007 a0001c0002t0003g0071	3	284	0.0106	-59	c.121 others(76): Show c.1214+475_1214+533delAGGGACATGGGGGACACGGAGGGTGCGT GCTGCCCTCTCCCGTACAGGTAGGGCTCCCC	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP3_chr13_112480011_112593153	112574097	TCCCCTGC others(52): Show TCCCCTGCCCAATCCACAGAGAATCTTCAAGTGGGCACTCTGAGCTCACA GTGTGGCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 NA19030.hp1 HG01884.hp1 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0088 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0002g0088 a0001c0001t0006g0086 a0001c0001t0006g0087	3	312	0.0096	-59	c.77- others(74): Show c.77-4897_77-4839delGAAGCCACACTGTGAGCTCAGAGTGCCCAC TTGAAGATTCTCTGTGGATTGGGCAGGGG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	1/21			chr13	TogoVar
TULP4_chr6_158307465_158516828	158491413	CTTTCTTT others(52): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTT CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG01257.hp1 others(12): Show HG00621.hp2 HG01175.hp1 HG01257.hp1 HG01496.hp1 HG02027.hp1 HG02132.hp2 HG03704.hp1 NA18973.hp2 NA18998.hp2 NA19004.hp1 NA19066.hp2 NA19086.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0007 a0001c0009 others(1): Show a0001c0002 a0001c0007 a0001c0009 a0009c0036	a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0001c0002t0052 a0001c0002t0063 a0001c0007t0001 a0001c0009t0007 a0009c0036t0061	a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0034 others(12): Show a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0064 a0001c0002t0003g0010 a0001c0002t0003g0031 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0002t0020g0138 a0001c0002t0052g0150 a0001c0002t0063g0032 a0001c0007t0001g0038 a0001c0009t0007g0029 a0009c0036t0061g0047	15	268	0.0560	-59	c.163 others(78): Show c.1631+1713_1631+1771delTCTTTCTTTCTTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBAP2_chr9_33916693_34053887	33981245	GATATATA others(52): Show GATATATATATATATTCTGGATATATATATATATTCTGGATATATATATA TATTCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0112 a0002c0001t0003g0112	1	356	0.0028	-59	c.520 others(76): Show c.520+5456_520+5514delATCCAGAATATATATATATATCCAGAAT ATATATATATATCCAGAATATATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBE2L3_chr22_21562714_21629034	21594245	AGAGCATG others(52): Show AGAGCATGGAGCATGCTTCCTCCTGTAGATGCTTCTTCCTGATGCTGGTT ATAAGGTCAT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18977.hp2 NA19003.hp1 others(1): Show NA18965.hp1 NA18977.hp2 NA19003.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0276 a0001c0001t0001g0289	4	352	0.0114	-59	c.123 others(76): Show c.123+1324_123+1382delTTCCTGATGCTGGTTATAAGGTCATGAG CATGGAGCATGCTTCCTCCTGTAGATGCTTC	UBE2L3	ENSG00000185651.16	transcript	ENST00000342192.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
UNC5A_chr5_176805559_176885898	176805965	AGAAAGAA others(52): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	268	0.0037	-59	c.-47 others(70): Show c.-4785_-4727delGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4593		chr5	TogoVar
URAD_chr13_27972717_27993693	27991306	TATATGTA others(52): Show TATATGTATATGTATAGGTGTAGGTATAGGTATAGGTATAGGTATAGGTA TAGGTGTAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	-59	c.-27 others(70): Show c.-2728_-2670delCCTACACCTATACCTATACCTATACCTATACCTA TACCTACACCTATACATATACATAT	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2614		chr13	TogoVar
UST_chr6_148742030_149081990	148877669	ATGTATGA others(52): Show ATGTATGAGTGCAGGGGGTCATGTATGAGTGTGAGGGGTCGTGTATGAGT GGGGTGGTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00733.hp1 others(22): Show HG00408.hp1 HG00544.hp1 HG00733.hp1 HG01069.hp2 HG01891.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG03195.hp1 HG03516.hp2 NA18948.hp1 NA18960.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0003t0001 a0002c0002t0003 a0002c0002t0007	a0001c0001t0001g0006 a0001c0001t0001g0050 a0001c0001t0001g0052 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0190 a0001c0001t0002g0024 a0001c0001t0002g0114 a0001c0001t0003g0058 a0001c0001t0003g0088 a0001c0001t0003g0120 a0001c0001t0003g0189 a0001c0001t0004g0110 a0001c0001t0005g0014 a0001c0001t0007g0117 a0001c0001t0009g0147 a0001c0001t0013g0151 a0001c0001t0015g0118 a0001c0001t0024g0127 a0001c0003t0001g0090 a0002c0002t0003g0076 a0002c0002t0003g0102 a0002c0002t0007g0004	25	210	0.1191	-59	c.248 others(76): Show c.248-9297_248-9239delATGTATGAGTGTGAGGGGTCGTGTATGA GTGGGGTGGTCGTGTATGAGTGCAGGGGGTC	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VCX3A_chrX_6528618_6540118	6533128	CCCTCCCT others(52): Show CCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02895.hp1 others(1): Show HG02630.hp2 HG02723.hp2 HG02895.hp1 NA19043.hp1	a0005 a0012 a0005 a0012	a0005c0006 a0012c0012 a0005c0006 a0012c0012	a0005c0006t0001 a0012c0012t0001 a0005c0006t0001 a0012c0012t0001	a0005c0006t0001g0005 a0012c0012t0001g0023 a0005c0006t0001g0005 a0012c0012t0001g0023	4	74	0.0541	-59	c.55 others(68): Show c.558_*616delAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		489		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533408	CCCTCCCT others(52): Show CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0012 a0013c0011t0012	a0013c0011t0012g0012 a0013c0011t0012g0012	1	74	0.0135	-59	c.27 others(68): Show c.278_*336delAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		209		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466846	AGGGAGGG others(52): Show AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG03195.hp1 HG01243.hp1 HG02257.hp2 HG03195.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0008 a0011c0019t0008	a0011c0019t0008g0001 a0011c0019t0008g0001	3	271	0.0111	-59	c.46 others(68): Show c.464_*522delGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		337		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466909	AGGGAGGG others(52): Show AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCG GTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA19010.hp1 NA18949.hp2 NA19010.hp1	a0000 a0059 a0000 a0059	a0000c0096 a0059c0095 a0000c0096 a0059c0095	a0000c0096t0004 a0059c0095t0004 a0000c0096t0004 a0059c0095t0004	a0000c0096t0004g0002 a0059c0095t0004g0049 a0000c0096t0004g0002 a0059c0095t0004g0049	2	271	0.0074	-59	c.52 others(68): Show c.527_*585delGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGCGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar

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