Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
THEG_chr19_356747_381026	377294	CCCCACCC others(44): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTG TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0042 a0009c0011t0042	a0009c0011t0042g0116 a0009c0011t0042g0116	1	370	0.0027	-51	c.-13 others(62): Show c.-1375_-1325delCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding				1269		chr19	TogoVar
THEG_chr19_356747_381026	377320	CCCCCACC others(44): Show CCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18967.hp2 NA18985.hp1 others(3): Show NA18951.hp2 NA18967.hp2 NA18985.hp1 NA18989.hp1 NA19081.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0313 others(3): Show a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0313 a0002c0002t0001g0285 a0002c0002t0001g0293 a0002c0002t0001g0301	6	370	0.0162	-51	c.-14 others(62): Show c.-1401_-1351delCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding				1295		chr19	TogoVar
THEG_chr19_356747_381026	377418	CTGTGCCC others(44): Show CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0001 a0019c0025t0001	a0019c0025t0001g0155 a0019c0025t0001g0155	1	370	0.0027	-51	c.-14 others(62): Show c.-1499_-1449delAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACA		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding				1393		chr19	TogoVar
THEG_chr19_356747_381026	377529	CCCCACCC others(44): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp1 NA20300.hp2 HG02055.hp1 HG02965.hp1 NA20300.hp2	a0006 a0009 a0006 a0009	a0006c0006 a0009c0011 a0006c0006 a0009c0011	a0006c0006t0015 a0009c0011t0020 a0006c0006t0015 a0009c0011t0020	a0006c0006t0015g0048 a0009c0011t0020g0114 a0009c0011t0020g0115 a0006c0006t0015g0048 a0009c0011t0020g0114 a0009c0011t0020g0115	3	370	0.0081	-51	c.-16 others(62): Show c.-1610_-1560delCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding				1504		chr19	TogoVar
THSD7B_chr2_136760545_137682718	136890356	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	98	0.0102	-51	c.139 others(68): Show c.139+8060_139+8110delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27				INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31210703	AAGAGAAA others(44): Show AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGGGAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp1 HG03139.hp2 others(1): Show HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2	a0003 a0003	a0003c0005 a0003c0008 a0003c0014 others(1): Show a0003c0005 a0003c0008 a0003c0014 a0003c0015	a0003c0005t0012 a0003c0008t0006 a0003c0014t0001 others(1): Show a0003c0005t0012 a0003c0008t0006 a0003c0014t0001 a0003c0015t0004	a0003c0005t0012g0080 a0003c0008t0006g0136 a0003c0014t0001g0146 others(1): Show a0003c0005t0012g0080 a0003c0008t0006g0136 a0003c0014t0001g0146 a0003c0015t0004g0131	4	212	0.0189	-51	c.221 others(68): Show c.2218-539_2218-489delCTTTCTCCCTTCCTTCCTTCTTTCTCTT TCTTTCTTTCTCTTTCTTTCTCT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27					chr21	TogoVar
TMC1_chr9_72516608_72843297	72840886	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTG AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0018 a0001c0003t0009g0018	1	182	0.0055	-51	c.49 others(62): Show c.4914_*4964delCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGGCTGAC		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding				2590		chr9	TogoVar
TMC5_chr16_19412883_19504113	19434322	TAGATCTA others(44): Show TAGATCTATATATAATATATATTATATGATCTATATTATATATATAATAT AG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0023 a0010c0014t0023	a0010c0014t0023g0010 a0010c0014t0023g0010	1	336	0.0030	-51	c.-80 others(68): Show c.-80+3684_-80+3734delGATCTATATATAATATATATTATATGAT CTATATTATATATATAATATAGA		TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21				INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC7_chr16_18978934_19068942	19003371	TCTGCCCG others(44): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG03579.hp2 HG02109.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211	3	282	0.0106	-51	c.68- others(66): Show c.68-5771_68-5721delGAGGTGGGGGGGGTCAGCCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGG		TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding	1/15				INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCO3_chr13_113486021_113555229	113525564	GAGACGAC others(44): Show GAGACGACAGCTCTGTGCCGGTTATTCTAGAACAAGCCATCGTCATCATA GC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01175.hp2 others(7): Show HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG01978.hp1 HG02602.hp2 HG03831.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0148 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0254	10	368	0.0272	-51	c.134 others(70): Show c.1343+4850_1343+4900delGGTTATTCTAGAACAAGCCATCGTCA TCATAGCAGACGACAGCTCTGTGCC		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	8/12				INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113525583	GGTTATTC others(44): Show GGTTATTCTAGAACAAGCCATCGTCATCATAGCAGACGACAGCTCTGTGC CT	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0002 a0007c0021t0002	a0007c0021t0002g0054 a0007c0021t0002g0054	1	368	0.0027	-51	c.134 others(70): Show c.1343+4882_1343+4932delCAGACGACAGCTCTGTGCCTGTTATT CTAGAACAAGCCATCGTCATCATAG		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	8/12				INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113525984	CTGTGCCG others(44): Show CTGTGCCGGTTATTCTAGAAGAAGCCGTCGTCGTCGTAGGAGACGACAGC TA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0002 a0007c0021t0002	a0007c0021t0002g0054 a0007c0021t0002g0054	1	368	0.0027	-51	c.134 others(70): Show c.1343+5271_1343+5321delGAAGCCGTCGTCGTCGTAGGAGACGA CAGCTATGTGCCGGTTATTCTAGAA		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	8/12				INFO_REALIGN_3_PRIME	chr13	TogoVar
TMDD1_chr12_51808921_51819925	51815324	CTTGCTCT others(44): Show CTTGCTCTCCATTAACTTCGATATTCAATCAATTCCTACATTCTCTTTTT TT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	394	0.0025	-51	c.-48 others(60): Show c.-482_-432delAAAAAAAGAGAATGTAGGAATTGATTGAATATCGAA GTTAATGGAGAGCAA		TMDD1	ENSG00000284730.2	transcript	ENST00000642069.2	protein_coding				400		chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088835	ATGTCCTC others(44): Show ATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCG GG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	94	0.0106	-51	c.144 others(70): Show c.1444-4184_1444-4134delCCCGGTCATAGAGGACACCCGGTCAT GGAGGACACCCGGTCATGGAGGACA		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8					chr12	TogoVar
TMEM235_chr17_78226631_78245987	78232691	ATCCCAGC others(44): Show ATCCCAGCAGGCTGGAGGGTCCACAGGGCCCCCTCCGTTCCCCCCAGCTC CC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	468	0.0021	-51	c.190 others(66): Show c.190+482_190+532delCAGCAGGCTGGAGGGTCCACAGGGCCCCCT CCGTTCCCCCCAGCTCCCTCC		TMEM235	ENSG00000204278.14	transcript	ENST00000421688.7	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM239_chr20_2811364_2823062	2822645	CTCTCCCT others(44): Show CTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCC CG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01361.hp2 HG01257.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0009g0002 a0001c0001t0002g0002 a0001c0001t0009g0002	2	400	0.0050	-51	c.56 others(62): Show c.5633_*5683delTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTC TCCCTCTCCCTCTCCCG		TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding				4584		chr20	TogoVar
TMEM265_chr16_30735642_30750196	30749040	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 NA19057.hp2 HG00140.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	284	0.0070	-51	c.50 others(62): Show c.5098_*5148delTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGC		TMEM265	ENSG00000281991.2	transcript	ENST00000615541.3	protein_coding				3845		chr16	TogoVar
TMEM265_chr16_30735642_30750196	30749043	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	284	0.0035	-51	c.51 others(62): Show c.5101_*5151delTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGC		TMEM265	ENSG00000281991.2	transcript	ENST00000615541.3	protein_coding				3848		chr16	TogoVar
TMEM265_chr16_30735642_30750196	30749073	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGGTGCTGCTGCTGCTGCTGCTGCTGGTGGTGCTGGT GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	-51	c.51 others(62): Show c.5131_*5181delTGGTGGTGGTGGTGGTGCTGCTGCTGCTGCTGCT GCTGGTGGTGCTGGTGC		TMEM265	ENSG00000281991.2	transcript	ENST00000615541.3	protein_coding				3878		chr16	TogoVar
TMEM63C_chr14_77176798_77264495	77236221	GTGATGGG others(44): Show GTGATGGGTGGGGGTATGGGGAGACTGTGGTGGGTGGGGGGTATGGGGAG AC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	322	0.0031	-51	c.543 others(66): Show c.543-400_543-350delATGGGTGGGGGTATGGGGAGACTGTGGTGG GTGGGGGGTATGGGGAGACTG		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23				INFO_REALIGN_3_PRIME	chr14	TogoVar
TMIGD2_chr19_4287227_4307389	4288019	AGCCTCCT others(44): Show AGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	436	0.0023	-51	c.45 others(62): Show c.4529_*4579delAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATC CCAGCTACTCAGGAGGC		TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding				4207		chr19	TogoVar
TNFRSF13C_chr22_41917032_41931806	41930340	CTGCCTCA others(44): Show CTGCCTCAGCCTCCCACGTAGCTGGGACTACAGGCACGGGCCACCATGCC TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	314	0.0032	-51	c.-36 others(62): Show c.-3618_-3568delCAGGCATGGTGGCCCGTGCCTGTAGTCCCAGCTA CGTGGGAGGCTGAGGCA		TNFRSF13C	ENSG00000159958.7	transcript	ENST00000291232.5	protein_coding				3535		chr22	TogoVar
TNK2_chr3_195858364_195913551	195880637	TGAAGAGG others(44): Show TGAAGAGGACACAGCATATATCCCTGTATCACCTAACTCAGCAATGACCC TC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0276 a0001c0003t0001g0276	1	372	0.0027	-51	c.887 others(68): Show c.887+1363_887+1413delGAGGGTCATTGCTGAGTTAGGTGATACA GGGATATATGCTGTGTCCTCTTC		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195880718	ACCCCCCC others(44): Show ACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC AC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00741.hp2 others(31): Show HG00140.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG02155.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG03209.hp2 HG03490.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18940.hp1 NA18949.hp2 NA18961.hp1 NA18963.hp2 NA18986.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0021 a0024	a0001c0001 a0001c0006 a0001c0011 others(11): Show a0001c0001 a0001c0006 a0001c0011 a0001c0012 a0001c0031 a0002c0026 a0002c0067 a0002c0068 a0002c0073 a0002c0074 a0003c0015 a0003c0030 a0021c0075 a0024c0077	a0001c0001t0001 a0001c0006t0001 a0001c0006t0012 others(13): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0012 a0001c0011t0001 a0001c0012t0001 a0001c0031t0001 a0002c0026t0001 a0002c0026t0009 a0002c0067t0001 a0002c0068t0001 a0002c0073t0001 a0002c0074t0001 a0003c0015t0001 a0003c0030t0001 a0021c0075t0001 a0024c0077t0001	a0001c0001t0001g0076 a0001c0001t0001g0336 a0001c0006t0001g0061 others(31): Show a0001c0001t0001g0076 a0001c0001t0001g0336 a0001c0006t0001g0061 a0001c0006t0001g0066 a0001c0006t0001g0069 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0083 a0001c0006t0001g0087 a0001c0006t0001g0092 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0012g0065 a0001c0011t0001g0081 a0001c0012t0001g0067 a0001c0012t0001g0071 a0001c0012t0001g0075 a0001c0012t0001g0085 a0001c0012t0001g0088 a0001c0031t0001g0089 a0001c0031t0001g0090 a0002c0026t0001g0074 a0002c0026t0009g0099 a0002c0067t0001g0082 a0002c0068t0001g0063 a0002c0073t0001g0068 a0002c0074t0001g0073 a0003c0015t0001g0064 a0003c0015t0001g0080 a0003c0015t0001g0084 a0003c0030t0001g0072 a0021c0075t0001g0079 a0024c0077t0001g0086	34	372	0.0914	-51	c.887 others(68): Show c.887+1282_887+1332delGTGTTACAGGGATAGATGCTGTGTCCTC TCCAAGGGGCATTGCTGGGGGGG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195880809	TCCCTGTA others(44): Show TCCCTGTAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCT AA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0001 a0002c0072t0001	a0002c0072t0001g0091 a0002c0072t0001g0091	1	372	0.0027	-51	c.887 others(68): Show c.887+1191_887+1241delTTAGATGCTGTGTCCTCTCCAAGGGGCA TTGCTGGGGGGGGTGTTACAGGG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195880981	CCAGCGAT others(44): Show CCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACACCACC CG	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0071 a0001c0012t0001g0071	1	372	0.0027	-51	c.887 others(68): Show c.887+1019_887+1069delCGGGTGGTGTTAGAGGGATAGACACTGT GTCCTCTCCAAGGGGCATCGCTG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195881026	CCACCCGC others(44): Show CCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAA CA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00735.hp1 others(4): Show HG00280.hp2 HG00323.hp1 HG00735.hp1 HG01433.hp2 HG02004.hp2 HG03130.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0017 a0001c0020 others(2): Show a0001c0002 a0001c0017 a0001c0020 a0001c0036 a0003c0015	a0001c0002t0001 a0001c0017t0006 a0001c0020t0002 others(2): Show a0001c0002t0001 a0001c0017t0006 a0001c0020t0002 a0001c0036t0001 a0003c0015t0001	a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0181 others(4): Show a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0181 a0001c0017t0006g0012 a0001c0020t0002g0252 a0001c0036t0001g0023 a0003c0015t0001g0020	7	372	0.0188	-51	c.887 others(67): Show c.887+974_887+1024delTGTTAGAGGGACAGATCCTGTGTCCTCTT CAAGGGGCATTGCTGGCGGGTG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195881465	AGGATCTG others(44): Show AGGATCTGTCCCTCTAACACCCCCCCCAGCAACGCCCCTTGGAGAGGACA CG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0172 a0002c0008t0002g0172	1	372	0.0027	-51	c.887 others(66): Show c.887+535_887+585delCGTGTCCTCTCCAAGGGGCGTTGCTGGGGG GGGTGTTAGAGGGACAGATCC		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195881506	GAGAGGAC others(44): Show GAGAGGACACGGCATCTATCCCTGTAACACCCCCCCCAGCAATGCCCCTT GA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0001 a0004c0032t0001	a0004c0032t0001g0303 a0004c0032t0001g0303	1	372	0.0027	-51	c.887 others(66): Show c.887+494_887+544delTCAAGGGGCATTGCTGGGGGGGGTGTTACA GGGATAGATGCCGTGTCCTCT		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNK2_chr3_195858364_195913551	195881516	GGCATCTA others(44): Show GGCATCTATCCCTGTAACACCCCCCCCAGCAATGCCCCTTGAAGAGGACA CA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18989.hp2 NA19079.hp2 others(1): Show HG01109.hp1 NA18989.hp2 NA19079.hp2 NA19080.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0010c0059 a0001c0009 a0010c0059	a0001c0009t0002 a0010c0059t0001 a0001c0009t0002 a0010c0059t0001	a0001c0009t0002g0266 a0001c0009t0002g0330 a0001c0009t0002g0331 others(1): Show a0001c0009t0002g0266 a0001c0009t0002g0330 a0001c0009t0002g0331 a0010c0059t0001g0021	4	372	0.0108	-51	c.887 others(66): Show c.887+484_887+534delTGTGTCCTCTTCAAGGGGCATTGCTGGGGG GGGTGTTACAGGGATAGATGC		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15					chr3	TogoVar
TNNT3_chr11_1914703_1943702	1943239	GTGAACGG others(44): Show GTGAACGGCCCCTCCCCCACCCTCTGAATGAATGAATGAGTGAGTGTATG TA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	125	0.0080	-51	c.47 others(62): Show c.4748_*4798delTGAACGGCCCCTCCCCCACCCTCTGAATGAATGA ATGAGTGAGTGTATGTA		TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding				4538		chr11	TogoVar
TNS3_chr7_47270154_47587111	47388997	AAGAAGGA others(44): Show AAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0008 a0008	a0008c0048 a0008c0048	a0008c0048t0007 a0008c0048t0007	a0008c0048t0007g0162 a0008c0048t0007g0162	1	196	0.0051	-51	c.102 others(70): Show c.1024+7752_1024+7802delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCCTTCT		TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	16/30					chr7	TogoVar
TNS3_chr7_47270154_47587111	47389002	GGAAGAAG others(44): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01515.hp1 others(19): Show HG01074.hp1 HG01256.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG02040.hp1 HG02040.hp2 HG02145.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp2 NA18945.hp2 NA18990.hp1 NA19087.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0021 a0001c0022 a0001c0055 a0001c0057 a0001c0058 a0003c0060 a0005c0017 a0010c0059 a0012c0026 a0013c0042	a0001c0001t0008 a0001c0001t0033 a0001c0002t0002 others(17): Show a0001c0001t0008 a0001c0001t0033 a0001c0002t0002 a0001c0002t0008 a0001c0005t0002 a0001c0005t0021 a0001c0005t0051 a0001c0007t0002 a0001c0021t0005 a0001c0021t0052 a0001c0022t0007 a0001c0055t0002 a0001c0057t0002 a0001c0058t0001 a0003c0060t0020 a0005c0017t0005 a0005c0017t0040 a0010c0059t0009 a0012c0026t0014 a0013c0042t0005	a0001c0001t0008g0163 a0001c0001t0033g0037 a0001c0002t0002g0008 others(19): Show a0001c0001t0008g0163 a0001c0001t0033g0037 a0001c0002t0002g0008 a0001c0002t0008g0076 a0001c0005t0002g0095 a0001c0005t0002g0097 a0001c0005t0021g0043 a0001c0005t0021g0046 a0001c0005t0051g0115 a0001c0007t0002g0139 a0001c0021t0005g0052 a0001c0021t0052g0105 a0001c0022t0007g0158 a0001c0055t0002g0156 a0001c0057t0002g0078 a0001c0058t0001g0120 a0003c0060t0020g0073 a0005c0017t0005g0134 a0005c0017t0040g0154 a0010c0059t0009g0068 a0012c0026t0014g0067 a0013c0042t0005g0164	22	196	0.1122	-51	c.102 others(70): Show c.1024+7747_1024+7797delTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTC		TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	16/30					chr7	TogoVar
TNS3_chr7_47270154_47587111	47389035	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0025 a0001c0015t0025	a0001c0015t0025g0176 a0001c0015t0025g0176	1	196	0.0051	-51	c.102 others(70): Show c.1024+7714_1024+7764delCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTC		TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	16/30					chr7	TogoVar
TOPBP1_chr3_133595238_133666941	133596423	CAGACGCC others(44): Show CAGACGCCCACCACCACTCCCAGCTAATTTTTGTATTTTTCTCCCAGAGA TG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	340	0.0029	-51	c.47 others(62): Show c.4776_*4826delCATCTCTGGGAGAAAAATACAAAAATTAGCTGGG AGTGGTGGTGGGCGTCT		TOPBP1	ENSG00000163781.14	transcript	ENST00000260810.10	protein_coding				3814		chr3	TogoVar
TRAPPC9_chr8_139722725_140462744	140110870	TAGCAGCT others(44): Show TAGCAGCTCCCCCCATACTCCCCCTGCAGCAGCTCCCCCCTGCACCCCCT GC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp1 HG02486.hp1 others(8): Show HG00738.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0005c0016	a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 a0001c0002t0017 a0001c0003t0002 a0001c0004t0001 a0001c0005t0008 a0001c0005t0030 a0005c0016t0026	a0001c0001t0001g0069 a0001c0001t0008g0083 a0001c0001t0029g0077 others(8): Show a0001c0001t0001g0069 a0001c0001t0008g0083 a0001c0001t0029g0077 a0001c0002t0017g0036 a0001c0003t0002g0014 a0001c0003t0002g0019 a0001c0004t0001g0086 a0001c0004t0001g0093 a0001c0005t0008g0065 a0001c0005t0030g0063 a0005c0016t0026g0070	11	98	0.1122	-51	c.255 others(72): Show c.2557-86842_2557-86792delGCAGGGGGTGCAGGGGGGAGCTGC TGCAGGGGGAGTATGGGGGGAGCTGCT		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22					chr8	TogoVar
TRIM2_chr4_153199443_153344317	153244134	TCTTCTTC others(44): Show TCTTCTTCTTGTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTCC TC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp1 HG02280.hp2 others(20): Show HG01169.hp1 HG01891.hp1 HG02280.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18979.hp2 NA18985.hp1 NA18988.hp2 NA19007.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0002t0011 a0001c0003t0013 a0001c0005t0003	a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0018 others(20): Show a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0265 a0001c0001t0005g0037 a0001c0001t0008g0020 a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 a0001c0001t0008g0044 a0001c0001t0008g0049 a0001c0001t0009g0060 a0001c0001t0009g0263 a0001c0001t0009g0264 a0001c0001t0016g0231 a0001c0002t0011g0005 a0001c0002t0011g0006 a0001c0002t0011g0070 a0001c0003t0013g0262 a0001c0005t0003g0021	23	268	0.0858	-51	c.31- others(68): Show c.31-26191_31-26141delGTTCTTCTTGTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTCCTTCTTCTT		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM44_chr11_35657775_35823007	35822348	TAGTGGCT others(44): Show TAGTGGCTGAGTGAGTGAACTTGAAGTGAAGAGCTAATAGCCATGACTGG AG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0250 a0001c0001t0023g0250	1	392	0.0026	-51	c.15 others(64): Show c.15964_*16014delAGTGGCTGAGTGAGTGAACTTGAAGTGAAGAG CTAATAGCCATGACTGGAG		TRIM44	ENSG00000166326.7	transcript	ENST00000299413.7	protein_coding				4342		chr11	TogoVar
TRIO_chr5_14138342_14515204	14347290	CGGACCTG others(44): Show CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	198	0.0051	-51	c.204 others(72): Show c.2046+10639_2046+10689delGATGATGCTGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56				INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14403776	TTGTGGTG others(44): Show TTGTGGTGAGGGTGTAGGTTGTGGTGGTGAGGGTGCAGGTTGTGAGGGTG CA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0041 a0007c0041	a0007c0041t0006 a0007c0041t0006	a0007c0041t0006g0174 a0007c0041t0006g0174	1	198	0.0051	-51	c.471 others(70): Show c.4717-2071_4717-2021delTGTGGTGAGGGTGTAGGTTGTGGTGG TGAGGGTGCAGGTTGTGAGGGTGCA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56					chr5	TogoVar
TRPM3_chr9_70524060_71126621	70567650	TAAACCAC others(44): Show TAAACCACAAGTCGTATAAAAATTGGCTAGTTTCTGGATCCTACATAGAA AG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0088 a0001c0001t0024g0088	1	214	0.0047	-51	c.322 others(72): Show c.3224-14391_3224-14341delCTTTCTATGTAGGATCCAGAAACT AGCCAATTTTTATACGACTTGTGGTTT		TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	22/25					chr9	TogoVar
TRPM4_chr19_49152792_49216836	49166498	CCCTCTCT others(44): Show CCCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCCCC CT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01081.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0066 a0001c0001t0002g0067	2	312	0.0064	-51	c.267 others(66): Show c.267+285_267+335delCTCTCTCTCTGGGTCTCTGTCCCCCTCTCT CTCTGGGTCTCTGTCCCCCTC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24				INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPV4_chr12_109778089_109838398	109811109	TTCATGAC others(44): Show TTCATGACCTTTAGCTTTGGGCTTAAATGTCAACTCCTCCAAGAAGCCCT CC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	344	0.0029	-51	c.387 others(68): Show c.387-2692_387-2642delGGAGGGCTTCTTGGAGGAGTTGACATTT AAGCCCAAAGCTAAAGGTCATGA		TRPV4	ENSG00000111199.12	transcript	ENST00000261740.7	protein_coding	2/15					chr12	TogoVar
TSNARE1_chr8_142207080_142408182	142326586	AGATGAGG others(44): Show AGATGAGGAACCAGCACCAGCGAAGGGGAGGGGCCCCGGAGAGCATGAGA CG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA20300.hp2 HG01975.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0142 a0002c0002t0001g0143	2	238	0.0084	-51	c.893 others(68): Show c.893+4264_893+4314delCGTCTCATGCTCTCCGGGGCCCCTCCCC TTCGCTGGTGCTGGTTCCTCATC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	6/13					chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142350142	GGGCAGGG others(44): Show GGGCAGGGCTGGGATCAGGGCAGGCAGGGTGGGCAGGGCTGGGACCTCGG CA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01952.hp2 HG02735.hp2 HG01517.hp2 HG01952.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0002g0009 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0002g0009	3	238	0.0126	-51	c.89- others(66): Show c.89-4301_89-4251delTGCCGAGGTCCCAGCCCTGCCCACCCTGCC TGCCCTGATCCCAGCCCTGCC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	2/13					chr8	TogoVar
TSPAN33_chr7_129139707_129174699	129173771	ATTATGGA others(44): Show ATTATGGAGAAAGTCTATTCCCAGAAACAAGAGAAGGAAGGAGTGGAGTG CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	432	0.0023	-51	c.58 others(62): Show c.5898_*5948delTTATGGAGAAAGTCTATTCCCAGAAACAAGAGAA GGAAGGAGTGGAGTGCG		TSPAN33	ENSG00000158457.6	transcript	ENST00000486685.3	protein_coding				4073		chr7	TogoVar
TSPEAR_chr21_44492893_44716572	44576294	TGTCCCAG others(44): Show TGTCCCAGGGTGGGTGAGGGGGCATAACTCATGGGTGAACAGACACACGG AC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	294	0.0034	-51	c.83- others(66): Show c.83-8340_83-8290delGTCCGTGTGTCTGTTCACCCATGAGTTATG CCCCCTCACCCACCCTGGGAC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11					chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44576320	ACTCATGG others(44): Show ACTCATGGGTGAACAGACACACGGACGTCCCAGGGTGGGTGAGGGGGCAA AC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp1 HG01975.hp2 others(6): Show HG00639.hp1 HG01975.hp1 HG01975.hp2 HG02257.hp1 HG02486.hp1 HG02886.hp1 NA19011.hp2 NA19070.hp2 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0018 a0001c0001 a0004c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0004c0018t0013	a0001c0001t0001g0015 a0001c0001t0001g0065 a0001c0001t0001g0232 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0065 a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0003g0224 a0001c0001t0006g0077 a0001c0001t0006g0264 a0001c0001t0015g0152 a0004c0018t0013g0041	9	294	0.0306	-51	c.83- others(66): Show c.83-8366_83-8316delGTTTGCCCCCTCACCCACCCTGGGACGTCC GTGTGTCTGTTCACCCATGAG		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11					chr21	TogoVar
TTBK2_chr15_42733730_42925778	42815907	TTTAAAAA others(44): Show TTTAAAAATATATATATATTTAAAAATATATATATATATATTTAAAAAAA AA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0007 a0001c0008t0027g0007	1	248	0.0040	-51	c.603 others(68): Show c.603+1074_603+1124delTTTTTTTTTAAATATATATATATATATT TTTAAATATATATATATTTTTAA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14					chr15	TogoVar
TTC31_chr2_74478081_74499559	74492295	CTTTATCA others(44): Show CTTTATCAGGTTATTTGGAAATCGTTCCTTCTGCCATGAGCGGTTGGGTC AG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0037 a0009c0009t0002g0037	1	332	0.0030	-51	c.102 others(62): Show c.1020-8_1062delTTTATCAGGTTATTTGGAAATCGTTCCTTCTGCC ATGAGCGGTTGGGTCAG	p.Leu others(5): Show p.Leu341fs	TTC31	ENSG00000115282.21	transcript	ENST00000233623.11	protein_coding	11/13	1020/1560	340/519			chr2	TogoVar