Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TKTL1_chrX_154290795_154335350	154328545	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp1 HG03098.hp1 others(5): Show HG01934.hp1 HG02559.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 NA18971.hp1 NA18983.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0068 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0251 a0001c0001t0004g0184 a0001c0001t0004g0250 a0001c0001t0010g0183	8	272	0.0294	-23	c.161 others(40): Show c.1618+612_1618+634delAAAAAAAAAAAAAAAAAAAAAAA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
TLCD2_chr17_1697816_1715377	1701754	CGCGGGGG others(16): Show CGCGGGGGAGGGGGGCGGGCGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	451	0.0022	-23	c.59 others(34): Show c.5993_*6015delCTCCGCCCGCCCCCCTCCCCCGC	TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding		1061		chr17	TogoVar
TLE1_chr9_81578683_81694547	81615081	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20905.hp1 HG00741.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0307 a0001c0002t0001g0211 a0001c0001t0003g0307 a0001c0002t0001g0211	2	356	0.0056	-23	c.918 others(38): Show c.918+878_918+900delTTTTTTTTTTTTTTTTTTTTTTT	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	11/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81615105	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02615.hp1 others(1): Show HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0006 a0001c0001t0001 a0001c0001t0002 a0001c0002t0006	a0001c0001t0001g0055 a0001c0001t0001g0204 a0001c0001t0002g0288 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0204 a0001c0001t0002g0288 a0001c0002t0006g0029	4	356	0.0112	-23	c.918 others(38): Show c.918+854_918+876delCTTCTTCTTTTTTTTTTTTTTTT	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	11/19			chr9	TogoVar
TLE4_chr9_79566965_79731882	79606187	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04204.hp1 HG02602.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	258	0.0078	-23	c.253 others(40): Show c.253-6453_253-6431delTTTTTTTTTTTTTTTTTTTTTTT	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
TLE5_chr19_3047910_3067495	3051696	AAAAAATT others(16): Show AAAAAATTATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	410	0.0024	-23	c.21 others(34): Show c.2100_*2122delATATATATATATATATAATTTTT	TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding		1213		chr19	TogoVar
TLE5_chr19_3047910_3067495	3051703	TATATATA others(16): Show TATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03195.hp1 HG03239.hp2 others(1): Show HG02970.hp1 HG03195.hp1 HG03239.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0127	4	410	0.0098	-23	c.20 others(34): Show c.2093_*2115delTATATATATATATATATATATAT	TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding		1206		chr19	TogoVar
TLK1_chr2_170985823_171165893	171151778	TGTATCTT others(16): Show TGTATCTTTAAGTAAATGAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	266	0.0038	-23	c.139 others(40): Show c.139+8489_139+8511delTTATTTCATTTACTTAAAGATAC	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	1/20			chr2	TogoVar
TLL1_chr4_165868237_166109457	166020322	CTATTCCA others(16): Show CTATTCCATGTACTGTGACAACAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02109.hp2 others(24): Show HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0010 a0001c0011 others(11): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0026 a0001c0027 a0002c0013 a0002c0028 a0003c0004 a0003c0008 a0004c0006	a0001c0001t0016 a0001c0001t0058 a0001c0001t0067 others(16): Show a0001c0001t0016 a0001c0001t0058 a0001c0001t0067 a0001c0010t0045 a0001c0010t0048 a0001c0011t0026 a0001c0012t0015 a0001c0014t0025 a0001c0014t0037 a0001c0015t0056 a0001c0016t0003 a0001c0016t0009 a0001c0026t0002 a0001c0027t0060 a0002c0013t0027 a0002c0028t0071 a0003c0004t0018 a0003c0008t0017 a0004c0006t0022	a0001c0001t0016g0014 a0001c0001t0016g0015 a0001c0001t0016g0137 others(24): Show a0001c0001t0016g0014 a0001c0001t0016g0015 a0001c0001t0016g0137 a0001c0001t0058g0083 a0001c0001t0067g0068 a0001c0010t0045g0012 a0001c0010t0048g0051 a0001c0011t0026g0009 a0001c0012t0015g0013 a0001c0012t0015g0016 a0001c0014t0025g0010 a0001c0014t0037g0008 a0001c0015t0056g0073 a0001c0016t0003g0039 a0001c0016t0009g0243 a0001c0026t0002g0035 a0001c0027t0060g0203 a0002c0013t0027g0007 a0002c0013t0027g0011 a0002c0028t0071g0006 a0003c0004t0018g0024 a0003c0004t0018g0030 a0003c0004t0018g0148 a0003c0008t0017g0140 a0003c0008t0017g0151 a0004c0006t0022g0025 a0004c0006t0022g0026	27	250	0.1080	-23	c.104 others(42): Show c.1043-4985_1043-4963delGTACTGTGACAACAGTATTCCAT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL2_chr10_96359608_96518926	96411257	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(93): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19009.hp1 NA19030.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0017 a0001c0020 a0005c0023 a0007c0016 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0002t0004 a0001c0002t0007 a0001c0003t0003 a0001c0003t0005 a0001c0003t0017 a0001c0005t0002 a0001c0009t0002 a0001c0017t0002 a0001c0020t0001 a0005c0023t0003 a0007c0016t0010 a0011c0012t0026	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(93): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0195 a0001c0001t0002g0213 a0001c0001t0003g0070 a0001c0001t0003g0211 a0001c0001t0003g0240 a0001c0001t0004g0054 a0001c0001t0005g0023 a0001c0001t0006g0128 a0001c0001t0006g0152 a0001c0001t0006g0158 a0001c0001t0012g0057 a0001c0001t0020g0002 a0001c0001t0028g0033 a0001c0001t0029g0125 a0001c0001t0031g0046 a0001c0001t0033g0040 a0001c0001t0037g0079 a0001c0001t0038g0245 a0001c0002t0004g0112 a0001c0002t0004g0140 a0001c0002t0004g0149 a0001c0002t0007g0129 a0001c0003t0003g0099 a0001c0003t0003g0232 a0001c0003t0005g0223 a0001c0003t0017g0243 a0001c0005t0002g0110 a0001c0005t0002g0114 a0001c0005t0002g0115 a0001c0005t0002g0118 a0001c0009t0002g0109 a0001c0009t0002g0144 a0001c0017t0002g0101 a0001c0020t0001g0013 a0005c0023t0003g0228 a0007c0016t0010g0250 a0011c0012t0026g0092	96	256	0.3750	-23	c.104 others(40): Show c.1049-806_1049-784delTTTTTTTTTTTTTTTTTTTTTTT	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	8/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96459686	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	256	0.0039	-23	c.287 others(42): Show c.287-13541_287-13519delATATTTTTTTTTTTTTTTTTTTT	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLN2_chr15_62385550_62849631	62534111	TAGTGTGT others(16): Show TAGTGTGTAGGGATTTCTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp1 HG02895.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0034 a0001c0002 a0001c0034	a0001c0002t0031 a0001c0034t0007 a0001c0002t0031 a0001c0034t0007	a0001c0002t0031g0116 a0001c0034t0007g0080 a0001c0002t0031g0116 a0001c0034t0007g0080	2	144	0.0139	-23	c.-23 others(44): Show c.-237-55551_-237-55529delGTGTGTAGGGATTTCTCCCCACA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62574579	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG01517.hp1 others(3): Show HG01255.hp2 HG01256.hp2 HG01517.hp1 HG02486.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0029 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0029 a0001c0003t0001 a0001c0004t0002 a0001c0004t0013	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0029g0072 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0029g0072 a0001c0003t0001g0067 a0001c0004t0002g0069 a0001c0004t0013g0046	6	144	0.0417	-23	c.-23 others(44): Show c.-237-15090_-237-15068delAAAAAAAAAAAAAAAAAAAAAAA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62620816	CTTTTTTT others(16): Show CTTTTTTTTTTCTTTCTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 NA18906.hp1 HG02559.hp1 HG02630.hp2 NA18906.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0035 a0006c0041 a0001c0002 a0002c0035 a0006c0041	a0001c0002t0009 a0002c0035t0006 a0006c0041t0001 a0001c0002t0009 a0002c0035t0006 a0006c0041t0001	a0001c0002t0009g0001 a0002c0035t0006g0124 a0006c0041t0001g0088 a0001c0002t0009g0001 a0002c0035t0006g0124 a0006c0041t0001g0088	3	144	0.0208	-23	c.-37 others(40): Show c.-37+2352_-37+2374delCTTTCTTTTTCTTTTTTTTTTTT	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	3/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLR2_chr4_153679280_153711260	153684311	CCAGGCGG others(16): Show CCAGGCGGCTGCTCGGCGTTCTCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00609.hp1 others(114): Show HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0008 a0005c0011	a0001c0001t0002 a0001c0002t0002 a0001c0002t0009 others(4): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0009 a0001c0003t0002 a0001c0004t0002 a0003c0008t0002 a0005c0011t0010	a0001c0001t0002g0027 a0001c0001t0002g0069 a0001c0001t0002g0075 others(40): Show a0001c0001t0002g0027 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0121 a0001c0002t0002g0152 a0001c0002t0009g0011 a0001c0003t0002g0002 a0001c0003t0002g0014 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0067 a0001c0003t0002g0070 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0076 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0119 a0001c0004t0002g0001 a0001c0004t0002g0005 a0003c0008t0002g0071 a0005c0011t0010g0079	117	432	0.2708	-23	c.-20 others(32): Show c.-207_-185delCGGCTGCTCGGCGTTCTCTCAGG	TLR2	ENSG00000137462.9	transcript	ENST00000642700.2	protein_coding	1/3	18570	INFO_REALIGN_3_PRIME	chr4	TogoVar
TMC1_chr9_72516608_72843297	72532541	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	182	0.0055	-23	c.-42 others(44): Show c.-428+10652_-428+10674delAAAAAAAAAAAAAAAAAAAAAAA	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC2_chr20_2531573_2648580	2541890	CTGCATTT others(16): Show CTGCATTTTCCGCCGTTTCCTAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(134): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0017 a0019 a0021 a0023	a0001c0001 a0001c0003 a0001c0005 others(24): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0013 a0001c0018 a0001c0019 a0002c0002 a0002c0004 a0002c0008 a0003c0007 a0003c0011 a0003c0015 a0003c0022 a0004c0006 a0005c0009 a0006c0012 a0007c0025 a0009c0030 a0011c0042 a0011c0043 a0012c0021 a0013c0048 a0017c0035 a0019c0034 a0021c0039 a0023c0052	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0023 a0001c0005t0002 a0001c0005t0024 a0001c0010t0002 a0001c0013t0001 a0001c0013t0004 a0001c0018t0003 a0001c0018t0007 a0001c0019t0002 a0002c0002t0001 a0002c0004t0002 a0002c0004t0013 a0002c0008t0003 a0002c0008t0005 a0003c0007t0001 a0003c0007t0003 a0003c0011t0001 a0003c0011t0002 a0003c0015t0008 a0003c0022t0004 a0004c0006t0001 a0005c0009t0003 a0006c0012t0003 a0007c0025t0007 a0009c0030t0012 a0011c0042t0001 a0011c0043t0004 a0012c0021t0002 a0013c0048t0002 a0017c0035t0016 a0019c0034t0006 a0021c0039t0001 a0023c0052t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0184 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0342 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0004g0286 a0001c0001t0004g0298 a0001c0001t0005g0229 a0001c0001t0006g0312 a0001c0001t0009g0300 a0001c0001t0009g0304 a0001c0001t0009g0315 a0001c0001t0009g0338 a0001c0001t0010g0170 a0001c0003t0001g0005 a0001c0003t0001g0231 a0001c0003t0001g0311 a0001c0003t0003g0006 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0179 a0001c0003t0003g0186 a0001c0003t0003g0215 a0001c0003t0003g0218 a0001c0003t0003g0224 a0001c0003t0003g0242 a0001c0003t0003g0260 a0001c0003t0003g0301 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0320 a0001c0003t0003g0324 a0001c0003t0003g0343 a0001c0003t0005g0185 a0001c0003t0005g0232 a0001c0003t0005g0239 a0001c0003t0005g0241 a0001c0003t0005g0255 a0001c0003t0005g0257 a0001c0003t0007g0236 a0001c0003t0023g0230 a0001c0005t0002g0183 a0001c0005t0002g0211 a0001c0005t0002g0214 a0001c0005t0002g0220 a0001c0005t0002g0225 a0001c0005t0002g0226 a0001c0005t0002g0228 a0001c0005t0002g0240 a0001c0005t0002g0243 a0001c0005t0002g0283 a0001c0005t0002g0336 a0001c0005t0024g0212 a0001c0010t0002g0187 a0001c0013t0001g0010 a0001c0013t0004g0293 a0001c0018t0003g0295 a0001c0018t0007g0223 a0001c0019t0002g0011 a0002c0002t0001g0007 a0002c0002t0001g0188 a0002c0002t0001g0245 a0002c0002t0001g0303 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0318 a0002c0002t0001g0326 a0002c0002t0001g0340 a0002c0004t0002g0189 a0002c0004t0002g0190 a0002c0004t0002g0217 a0002c0004t0002g0221 a0002c0004t0002g0251 a0002c0004t0002g0252 a0002c0004t0002g0321 a0002c0004t0002g0322 a0002c0004t0002g0323 a0002c0004t0013g0317 a0002c0008t0003g0305 a0002c0008t0005g0246 a0003c0007t0001g0256 a0003c0007t0001g0334 a0003c0007t0001g0337 a0003c0007t0003g0339 a0003c0011t0001g0289 a0003c0011t0001g0319 a0003c0011t0002g0299 a0003c0015t0008g0157 a0003c0022t0004g0155 a0004c0006t0001g0316 a0005c0009t0003g0008 a0005c0009t0003g0250 a0006c0012t0003g0254 a0007c0025t0007g0281 a0007c0025t0007g0282 a0009c0030t0012g0156 a0011c0042t0001g0284 a0011c0043t0004g0341 a0012c0021t0002g0287 a0012c0021t0002g0288 a0013c0048t0002g0291 a0017c0035t0016g0009 a0019c0034t0006g0285 a0021c0039t0001g0253 a0023c0052t0002g0292	137	344	0.3983	-23	c.82+ others(38): Show c.82+4582_82+4604delTCCGCCGTTTCCTAATTGCATTT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2554783	ATGATCTG others(16): Show ATGATCTGAGAGAGTATATTGTAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp1 HG02056.hp1 others(17): Show HG00673.hp1 HG01243.hp1 HG02056.hp1 HG02071.hp2 HG02155.hp1 HG02486.hp2 HG03041.hp2 HG03654.hp2 HG04199.hp2 NA18906.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp2 NA18982.hp1 NA18993.hp2 NA19009.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0005 a0001c0019 others(4): Show a0001c0001 a0001c0005 a0001c0019 a0004c0006 a0004c0032 a0004c0033 a0005c0009	a0001c0001t0001 a0001c0005t0002 a0001c0019t0002 others(5): Show a0001c0001t0001 a0001c0005t0002 a0001c0019t0002 a0004c0006t0001 a0004c0006t0003 a0004c0032t0002 a0004c0033t0003 a0005c0009t0003	a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0005t0002g0269 others(17): Show a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0005t0002g0269 a0001c0019t0002g0270 a0004c0006t0001g0143 a0004c0006t0001g0154 a0004c0006t0001g0177 a0004c0006t0001g0198 a0004c0006t0001g0199 a0004c0006t0001g0200 a0004c0006t0001g0201 a0004c0006t0001g0204 a0004c0006t0001g0207 a0004c0006t0001g0208 a0004c0006t0001g0209 a0004c0006t0001g0210 a0004c0006t0003g0202 a0004c0032t0002g0082 a0004c0033t0003g0142 a0005c0009t0003g0178	20	344	0.0581	-23	c.83- others(38): Show c.83-3672_83-3650delTGATCTGAGAGAGTATATTGTAT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	2/19			chr20	TogoVar
TMC4_chr19_54155108_54178160	54176180	AGTCTTGC others(16): Show AGTCTTGCTATGTTGACCTGGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0318 a0002c0002t0002g0318	1	407	0.0025	-23	c.-30 others(34): Show c.-3086_-3064delCAGCCAGGTCAACATAGCAAGAC	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding		3021		chr19	TogoVar
TMC5_chr16_19412883_19504113	19431119	CTGTGGGT others(16): Show CTGTGGGTCTTAAGTATGTAGGGA	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	336	0.0030	-23	c.-80 others(38): Show c.-80+481_-80+503delGTGGGTCTTAAGTATGTAGGGAT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCC1_chr3_129642792_129898711	129763303	GGAGCCGA others(16): Show GGAGCCGAAGGGGACGGATCACTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03942.hp2 HG03491.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0230 a0001c0004t0003g0231 a0001c0004t0003g0230 a0001c0004t0003g0231	2	258	0.0078	-23	c.576 others(42): Show c.576+64477_576+64499delAAGTGATCCGTCCCCTTCGGCTC	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCO1_chr1_165721795_165773868	165753574	AGCCCAGG others(16): Show AGCCCAGGAATTCAAGATCAGTGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	374	0.0027	-23	c.255 others(38): Show c.255+631_255+653delACACTGATCTTGAATTCCTGGGC	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	4/6			chr1	TogoVar
TMED10_chr14_75126469_75181612	75164555	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02723.hp2 others(6): Show HG01243.hp1 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(6): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0006g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0008g0121	9	262	0.0344	-23	c.225 others(42): Show c.225+11777_225+11799delATATATATATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164559	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0041 a0001c0001t0004g0042	2	262	0.0076	-23	c.225 others(42): Show c.225+11773_225+11795delAAAAATATATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75164561	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0248 a0001c0001t0018g0248	1	262	0.0038	-23	c.225 others(42): Show c.225+11771_225+11793delAAAAAAATATATATATATATATA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED8_chr14_77330029_77382094	77372907	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	328	0.0031	-23	c.118 others(40): Show c.118+4006_118+4028delTATATATATATATATATATATAT	TMED8	ENSG00000100580.8	transcript	ENST00000216468.8	protein_coding	1/5			chr14	TogoVar
TMED8_chr14_77330029_77382094	77372934	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0290 a0001c0001t0010g0290	1	328	0.0031	-23	c.118 others(40): Show c.118+3979_118+4001delAAAAATATATATATATATATATA	TMED8	ENSG00000100580.8	transcript	ENST00000216468.8	protein_coding	1/5			chr14	TogoVar
TMEFF2_chr2_191944046_192199933	192037610	GAGAGAAA others(16): Show GAGAGAAAGAGAGAGAGGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	164	0.0061	-23	c.536 others(42): Show c.536+20046_536+20068delTTCTCTCCTCTCTCTCTTTCTCT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192037620	GAGAGAGG others(16): Show GAGAGAGGAGAGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0106 a0001c0001t0006g0089 a0001c0001t0006g0106	2	164	0.0122	-23	c.536 others(42): Show c.536+20036_536+20058delTTCTCTCTCTTTCTCTCCTCTCT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9			chr2	TogoVar
TMEM107_chr17_8167457_8181380	8179129	TTTAATAA others(16): Show TTTAATAAAGTTTTAGGCCGGGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0017 a0001c0002t0009g0017	1	434	0.0023	-23	c.-28 others(34): Show c.-2866_-2844delCGCCCGGCCTAAAACTTTATTAA	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2750		chr17	TogoVar
TMEM119_chr12_108584851_108603084	108600233	CATTCATT others(16): Show CATTCATTCATTCATTCATTCATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0096 a0001c0004t0002g0096	1	444	0.0023	-23	c.-23 others(34): Show c.-2301_-2279delAATGAATGAATGAATGAATGAAT	TMEM119	ENSG00000183160.9	transcript	ENST00000392806.4	protein_coding		2150		chr12	TogoVar
TMEM130_chr7_98841490_98875014	98862966	GGAACCTA others(16): Show GGAACCTACGGGCCTAATCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01884.hp1 others(35): Show HG01081.hp2 HG01243.hp1 HG01884.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(7): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0016 a0001c0002t0025	a0001c0001t0003g0111 a0001c0002t0001g0035 a0001c0002t0001g0289 others(26): Show a0001c0001t0003g0111 a0001c0002t0001g0035 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0003g0006 a0001c0002t0003g0294 a0001c0002t0003g0328 a0001c0002t0004g0324 a0001c0002t0004g0332 a0001c0002t0005g0007 a0001c0002t0005g0297 a0001c0002t0005g0308 a0001c0002t0005g0327 a0001c0002t0005g0330 a0001c0002t0007g0001 a0001c0002t0007g0322 a0001c0002t0007g0323 a0001c0002t0009g0325 a0001c0002t0009g0326 a0001c0002t0009g0329 a0001c0002t0009g0331 a0001c0002t0015g0290 a0001c0002t0016g0036 a0001c0002t0016g0321 a0001c0002t0025g0307	38	380	0.1000	-23	c.391 others(38): Show c.391+106_391+128delTGGGGGATTAGGCCCGTAGGTTC	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	2/7			chr7	TogoVar
TMEM131L_chr4_153461360_153641711	153593604	TGTGGGAA others(16): Show TGTGGGAATGTGGGGTGGAGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG03130.hp1 HG02647.hp1 HG02717.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0082 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0082	3	248	0.0121	-23	c.192 others(40): Show c.1923-176_1923-154delGCTGGGTGGGAATGTGGGGTGGA	TMEM131L	ENSG00000121210.16	transcript	ENST00000409959.8	protein_coding	18/34		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM131_chr2_97751336_98000948	97943022	AAAAGAAA others(16): Show AAAAGAAAAGAAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02602.hp2 others(6): Show HG01257.hp1 HG01258.hp1 HG02602.hp2 NA18939.hp1 NA18952.hp2 NA18956.hp1 NA18982.hp2 NA19011.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0006 a0001c0001 a0003c0004 a0005c0006	a0001c0001t0002 a0003c0004t0002 a0005c0006t0005 a0001c0001t0002 a0003c0004t0002 a0005c0006t0005	a0001c0001t0002g0121 a0003c0004t0002g0108 a0003c0004t0002g0109 others(6): Show a0001c0001t0002g0121 a0003c0004t0002g0108 a0003c0004t0002g0109 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0116 a0003c0004t0002g0118 a0005c0006t0005g0136 a0005c0006t0005g0137	9	284	0.0317	-23	c.188 others(42): Show c.188-15558_188-15536delCTTTCTTTTCTTTTCTTTTCTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar
TMEM131_chr2_97751336_98000948	97943046	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01516.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0003g0040 a0001c0001t0003g0052 a0001c0001t0003g0056	3	284	0.0106	-23	c.188 others(42): Show c.188-15582_188-15560delCTTTCTTTCTTTCTTTCTTTCTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar
TMEM132B_chr12_125181386_125667369	125190500	TGGGAAGG others(16): Show TGGGAAGGGGTGGTGATGGTGATG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG03139.hp1 others(5): Show HG02886.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0002c0029 a0002c0038 a0004c0009	a0001c0002t0023 a0001c0003t0009 a0001c0004t0044 others(5): Show a0001c0002t0023 a0001c0003t0009 a0001c0004t0044 a0002c0005t0002 a0002c0005t0039 a0002c0029t0017 a0002c0038t0002 a0004c0009t0010	a0001c0002t0023g0022 a0001c0003t0009g0027 a0001c0004t0044g0023 others(5): Show a0001c0002t0023g0022 a0001c0003t0009g0027 a0001c0004t0044g0023 a0002c0005t0002g0084 a0002c0005t0039g0024 a0002c0029t0017g0060 a0002c0038t0002g0026 a0004c0009t0010g0025	8	128	0.0625	-23	c.67+ others(38): Show c.67+3659_67+3681delGGAAGGGGTGGTGATGGTGATGG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125411012	GGAGTGGA others(16): Show GGAGTGGAGTGAGTGGAGTGGAGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0055 a0002c0010t0002g0055	1	128	0.0078	-23	c.960 others(40): Show c.960-4508_960-4486delAGTGGAGTGGAGTGAGTGGAGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125517326	GATTTTTT others(16): Show GATTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01081.hp1 others(6): Show HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG02886.hp1 HG03942.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0017 a0001c0035 a0001c0036 a0002c0001 a0002c0008	a0001c0002t0009 a0001c0003t0004 a0001c0004t0001 others(6): Show a0001c0002t0009 a0001c0003t0004 a0001c0004t0001 a0001c0004t0005 a0001c0017t0050 a0001c0035t0032 a0001c0036t0004 a0002c0001t0017 a0002c0008t0003	a0001c0002t0009g0037 a0001c0003t0004g0103 a0001c0004t0001g0123 others(6): Show a0001c0002t0009g0037 a0001c0003t0004g0103 a0001c0004t0001g0123 a0001c0004t0005g0096 a0001c0017t0050g0095 a0001c0035t0032g0061 a0001c0036t0004g0109 a0002c0001t0017g0080 a0002c0008t0003g0014	9	128	0.0703	-23	c.110 others(42): Show c.1107-2112_1107-2090delATTTTTTTTTTTTTTTTTTTTTT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	3/8			chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128456366	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02723.hp1 others(6): Show HG01243.hp1 HG02280.hp1 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 NA18941.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0025	a0001c0001 a0002c0004 a0003c0010 others(5): Show a0001c0001 a0002c0004 a0003c0010 a0003c0072 a0004c0008 a0004c0026 a0004c0059 a0025c0054	a0001c0001t0006 a0002c0004t0003 a0003c0010t0003 others(6): Show a0001c0001t0006 a0002c0004t0003 a0003c0010t0003 a0003c0072t0007 a0004c0008t0010 a0004c0008t0013 a0004c0026t0002 a0004c0059t0002 a0025c0054t0001	a0001c0001t0006g0120 a0002c0004t0003g0052 a0003c0010t0003g0081 others(6): Show a0001c0001t0006g0120 a0002c0004t0003g0052 a0003c0010t0003g0081 a0003c0072t0007g0118 a0004c0008t0010g0006 a0004c0008t0013g0091 a0004c0026t0002g0137 a0004c0059t0002g0062 a0025c0054t0001g0008	9	170	0.0529	-23	c.974 others(42): Show c.974+40783_974+40805delTTTTTTTTTTTTTTTTTTTTTTT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129534196	GACAGCCT others(16): Show GACAGCCTCATTACACAGAGATAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG01975.hp2 others(9): Show HG01167.hp1 HG01891.hp1 HG01975.hp2 HG02647.hp1 HG02818.hp2 HG02922.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03669.hp1 HG03710.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0004 a0001c0002t0018 a0001c0004t0006 a0001c0007t0004 a0002c0003t0001	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0002g0021 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0006g0007 a0001c0002t0004g0023 a0001c0002t0018g0066 a0001c0004t0006g0049 a0001c0007t0004g0075 a0002c0003t0001g0061	12	94	0.1277	-23	c.969 others(40): Show c.969-3014_969-2992delTTATCTCTGTGTAATGAGGCTGT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM135_chr11_87032934_87333824	87129213	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp1 HG02004.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0121 a0001c0001t0012g0239 a0001c0001t0012g0256 a0001c0001t0002g0121 a0001c0001t0012g0239 a0001c0001t0012g0256	3	274	0.0110	-23	c.397 others(42): Show c.397-28103_397-28081delTTTTTTTTTTTTTTTTTTTTTTT	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM156_chr4_38961744_39037409	38986807	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	386	0.0026	-23	c.740 others(38): Show c.740-411_740-389delTTTTTTTTTTTTTTTTTTTTTTT	TMEM156	ENSG00000121895.8	transcript	ENST00000381938.4	protein_coding	4/6			chr4	TogoVar
TMEM165_chr4_55390957_55431175	55402421	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03669.hp2 HG01257.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0073 a0001c0001t0003g0346 a0001c0001t0002g0073 a0001c0001t0003g0346	2	382	0.0052	-23	c.207 others(40): Show c.207+6027_207+6049delATATATATATATTTTTTTTTTTT	TMEM165	ENSG00000134851.13	transcript	ENST00000381334.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM177_chr2_119674201_119687118	119684662	TTCCTTGT others(16): Show TTCCTTGTATGCGGCCATTCTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-23	c.28 others(34): Show c.2874_*2896delTCCTTGTATGCGGCCATTCTGAA	TMEM177	ENSG00000144120.13	transcript	ENST00000272521.7	protein_coding		2545		chr2	TogoVar
TMEM178B_chr7_141069064_141485380	141324416	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0050 a0001c0002t0040g0050	1	80	0.0125	-23	c.496 others(44): Show c.496+111727_496+111749delTTTTTTTTTTTTTTTTTTTTTTT	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM19_chr12_71681082_71710047	71681646	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0101 a0001c0001t0042g0101	1	396	0.0025	-23	c.-50 others(34): Show c.-5034_-5012delAAAAAAAAAAAAAAAAAAAAAAA	TMEM19	ENSG00000139291.14	transcript	ENST00000266673.10	protein_coding		4435		chr12	TogoVar
TMEM200C_chr18_5877072_5900522	5887411	TGCATTTC others(16): Show TGCATTTCTCTAAGAATGGTCTGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0088 a0009c0018t0088	a0009c0018t0088g0129 a0009c0018t0088g0129	1	438	0.0023	-23	c.27 others(34): Show c.2764_*2786delCCAGACCATTCTTAGAGAAATGC	TMEM200C	ENSG00000206432.4	transcript	ENST00000383490.3	protein_coding	2/2	2764		chr18	TogoVar
TMEM204_chr16_1528666_1560568	1556731	CTTTTTTA others(16): Show CTTTTTTATGACAAGGAATTTTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	420	0.0024	-23	c.17 others(34): Show c.1706_*1728delTTTTTTATGACAAGGAATTTTTA	TMEM204	ENSG00000131634.14	transcript	ENST00000566264.2	protein_coding		1164		chr16	TogoVar
TMEM221_chr19_17430509_17453668	17441523	CATTGGAC others(16): Show CATTGGACCAAGCTCAGCCAATCA	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0100 a0003c0003t0001g0100	1	422	0.0024	-23	c.406 others(40): Show c.406+3653_406+3675delTGATTGGCTGAGCTTGGTCCAAT	TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding	2/2			chr19	TogoVar
TMEM230_chr20_5094850_5118076	5111607	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0092 a0002c0006t0001g0092	1	404	0.0025	-23	c.69- others(33): Show c.69-25_69-3delTTTTTTTTTTTTTTTTTTTTTTT	TMEM230	ENSG00000089063.15	transcript	ENST00000342308.10	protein_coding	1/4			chr20	TogoVar

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Search Results (Total: 4709 hits)