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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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
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18988.hp2 HG02698.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0219 a0001c0001t0001g0097 a0001c0001t0001g0219	2	388	0.0052	23	c.513 others(40): Show c.513+2764_513+2765insATATATATATATATATTTTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18944.hp2 NA20805.hp2 HG01346.hp2 NA18944.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0228 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0228	3	388	0.0077	23	c.513 others(40): Show c.513+2764_513+2765insATATATATATATATATATTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG03710.hp2 others(3): Show HG00423.hp2 HG00438.hp1 HG03710.hp2 NA18946.hp1 NA18951.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0133	6	388	0.0155	23	c.513 others(40): Show c.513+2764_513+2765insATATATATATATATATATATTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	388	0.0026	23	c.513 others(40): Show c.513+2764_513+2765insATATATATATATATATATATATT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM4SF18_chr3_149313498_149338636	149322905	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01516.hp1 HG01517.hp2 others(6): Show HG01070.hp2 HG01516.hp1 HG01517.hp2 NA18940.hp2 NA18946.hp1 NA18957.hp1 NA18978.hp2 NA19075.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0077 a0001c0001t0005g0102 a0001c0001t0005g0134 others(4): Show a0001c0001t0005g0077 a0001c0001t0005g0102 a0001c0001t0005g0134 a0001c0001t0005g0138 a0001c0001t0005g0144 a0001c0001t0005g0206 a0001c0001t0009g0021	9	442	0.0204	23	c.411 others(38): Show c.411-470_411-469insAAAAAAAAAAAAAAAAAAAAAAA	TM4SF18	ENSG00000163762.7	transcript	ENST00000296059.7	protein_coding	4/5			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196341767	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	370	0.0027	23	c.-35 others(34): Show c.-3506_-3505insAAAAAAAAAAAAAAAAAAAAAAA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding		3380		chr3	TogoVar
TM4SF20_chr2_227357038_227384306	227365860	T T	TAGTCCTT others(16): Show TAGTCCTTTTAGACAATATCTAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	470	0.0021	23	c.401 others(38): Show c.401+210_401+232dupTTTAGATATTGTCTAAAAGGACT	TM4SF20	ENSG00000168955.4	transcript	ENST00000304568.4	protein_coding	3/3			chr2	TogoVar
TM9SF4_chr20_32104714_32172256	32123170	A A	AGGGGGAG others(16): Show AGGGGGAGGGGGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	298	0.0034	23	c.16- others(38): Show c.16-9830_16-9829insGGAGGGGGAGGGGGGAGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123176	A A	AGGGGGGG others(16): Show AGGGGGGGAGGGGGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	298	0.0034	23	c.16- others(38): Show c.16-9831_16-9809dupGGAGGGGGAGAGGGGGAGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123176	A A	AGGGGGGG others(16): Show AGGGGGGGGAGGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03927.hp1 HG03942.hp2 others(4): Show HG02056.hp2 HG03927.hp1 HG03942.hp2 NA18950.hp2 NA18975.hp2 NA18985.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0194	7	298	0.0235	23	c.16- others(38): Show c.16-9830_16-9829insGAGGGGGAGGGGGGAGGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123190	A A	AGAGGGGG others(16): Show AGAGGGGGAGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	298	0.0034	23	c.16- others(38): Show c.16-9812_16-9811insAGGGGGAGGGGGGAGGGGGAGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	298	0.0034	23	c.16- others(38): Show c.16-9146_16-9145insATATATATATATATTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02622.hp1 NA18940.hp2 others(1): Show HG02015.hp1 HG02622.hp1 NA18940.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0005 a0001c0001t0001 a0001c0008t0005	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0109 a0001c0008t0005g0072	4	298	0.0134	23	c.16- others(38): Show c.16-9146_16-9145insATATATATATATTTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123866	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02630.hp2 HG03540.hp2 HG02165.hp2 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0196 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0196	3	298	0.0101	23	c.16- others(38): Show c.16-9146_16-9145insATATATATATTTTTTTTTTTTTT	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32163268	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 NA19063.hp2 HG01884.hp1 HG03471.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0180 a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0180	3	298	0.0101	23	c.177 others(42): Show c.1779+1904_1779+1905insAAATATATATATATATATATATA	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32163268	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	298	0.0034	23	c.177 others(42): Show c.1779+1904_1779+1905insATATATATATATATATATATATA	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC1_chr9_72516608_72843297	72650872	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0175 a0001c0003t0030g0175	1	182	0.0055	23	c.16+ others(38): Show c.16+2208_16+2209insATATATATATATATATATATATA	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	5/23			chr9	TogoVar
TMC5_chr16_19412883_19504113	19473345	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0121 a0001c0001t0017g0121	1	336	0.0030	23	c.193 others(40): Show c.1939-766_1939-744dupAAAAAAAAAAAAAAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC7_chr16_18978934_19068942	19064374	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	282	0.0036	23	c.25 others(34): Show c.2531_*2532insGTGTGTGTGTGTGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		433		chr16	TogoVar
TMCC1_chr3_129642792_129898711	129720201	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp1 HG02717.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0154 a0001c0001t0008g0155	2	258	0.0078	23	c.577 others(42): Show c.577-48938_577-48937insCTTTTTTTTTTTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129726868	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18974.hp1 HG01358.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0005 a0001c0001t0014 a0001c0002t0005	a0001c0001t0014g0014 a0001c0002t0005g0185 a0001c0001t0014g0014 a0001c0002t0005g0185	2	258	0.0078	23	c.577 others(42): Show c.577-55627_577-55605dupTTTTTTTTTTTTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129849825	C C	CACACACA others(16): Show CACACACATACATATATACATAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	258	0.0039	23	c.-18 others(44): Show c.-183-17000_-183-16999insTTTATGTATATATGTATGTGTGT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	2/6			chr3	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01109.hp2 others(9): Show HG00642.hp1 HG00733.hp1 HG01109.hp2 HG01123.hp2 HG01258.hp2 HG01884.hp1 HG02148.hp2 HG02683.hp1 HG02698.hp2 HG03098.hp2 NA20752.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0002t0007 a0001c0003t0017 a0001c0004t0010 a0001c0005t0024 a0001c0005t0046 a0008c0014t0052	a0001c0001t0001g0198 a0001c0001t0002g0058 a0001c0001t0002g0076 others(9): Show a0001c0001t0001g0198 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0037g0002 a0001c0002t0007g0340 a0001c0003t0017g0113 a0001c0004t0010g0092 a0001c0005t0024g0245 a0001c0005t0024g0246 a0001c0005t0046g0008 a0008c0014t0052g0005	12	378	0.0318	23	c.79- others(40): Show c.79-10124_79-10123insTTTTTTTTTTTTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCO4_chr1_19677240_19804916	19802948	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0079 a0003c0008t0002g0079	1	312	0.0032	23	c.-32 others(34): Show c.-3274_-3273insTATATATATATATATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding		3033		chr1	TogoVar
TMCO6_chr5_140634451_140650404	140639594	C C	CGGCGGGA others(16): Show CGGCGGGAGCGGGAGGCAGGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0002 a0009c0012t0001g0002	1	406	0.0025	23	c.73_ others(31): Show c.73_85+10dupGAGCGGGAGGCAGGTGTGGGCGG	TMCO6	ENSG00000113119.13	transcript	ENST00000394671.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEFF1_chr9_100468149_100582636	100497320	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02135.hp1 HG03017.hp1 others(1): Show HG02056.hp2 HG02135.hp1 HG03017.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0176 a0001c0001t0002g0194 a0001c0001t0002g0203 others(1): Show a0001c0001t0002g0176 a0001c0001t0002g0194 a0001c0001t0002g0203 a0001c0001t0005g0193	4	242	0.0165	23	c.197 others(40): Show c.197-1443_197-1421dupTTTTTTTTTTTTTTTTTTTTTTT	TMEFF1	ENSG00000241697.5	transcript	ENST00000374879.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM107_chr17_8167457_8181380	8179065	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	434	0.0023	23	c.-27 others(34): Show c.-2780_-2779insATATATATATATATATATATATA	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2686		chr17	TogoVar
TMEM107_chr17_8167457_8181380	8179067	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0011 a0001c0001t0011g0011	2	434	0.0046	23	c.-27 others(34): Show c.-2782_-2781insATATATATATATATATATATATA	TMEM107	ENSG00000179029.15	transcript	ENST00000437139.7	protein_coding		2688		chr17	TogoVar
TMEM108_chr3_133033391_133402775	133176655	C C	CACATTCA others(16): Show CACATTCAAAGCAGTGTGTAGAGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	220	0.0046	23	c.-46 others(42): Show c.-46-52610_-46-52588dupACATTCAAAGCAGTGTGTAGAGG	TMEM108	ENSG00000144868.14	transcript	ENST00000321871.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM117_chr12_43831081_44394758	43969356	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02630.hp2 others(1): Show HG02258.hp2 HG02486.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0088 a0001c0001t0002g0091 others(1): Show a0001c0001t0001g0009 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093	4	110	0.0364	23	c.410 others(42): Show c.410+25031_410+25032insAAAAAAAAAAAAAAAAAAAAAAA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM121_chr14_105521583_105535198	105521599	T T	TTCTTTCT others(16): Show TTCTTTCTTTCTTTCTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	352	0.0028	23	c.-51 others(34): Show c.-5168_-5167insTCTTTCTTTCTTTCTTCTCTCTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar
TMEM121_chr14_105521583_105535198	105521599	T T	TTCTTTCT others(16): Show TTCTTTCTTTCTTTCTTTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	352	0.0028	23	c.-51 others(34): Show c.-5168_-5167insTCTTTCTTTCTTTCTTTCCTCTC	TMEM121	ENSG00000184986.12	transcript	ENST00000392519.7	protein_coding		4983		chr14	TogoVar
TMEM123_chr11_102391332_102457765	102395301	G G	GTTTTTGT others(16): Show GTTTTTGTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0001 a0003c0003t0006g0001	1	204	0.0049	23	c.35 others(34): Show c.3565_*3566insAAAAAAAAAAAAAAAAACAAAAA	TMEM123	ENSG00000152558.15	transcript	ENST00000398136.7	protein_coding		1030		chr11	TogoVar
TMEM130_chr7_98841490_98875014	98850273	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 NA20129.hp2 HG02257.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0289 a0001c0002t0001g0035 a0001c0002t0001g0289	3	380	0.0079	23	c.100 others(42): Show c.1006+1147_1006+1148insAAAAAAAAAAAAAAAAAAATATA	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding	6/7			chr7	TogoVar
TMEM131L_chr4_153461360_153641711	153545290	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0035 a0011c0035t0001g0035	1	248	0.0040	23	c.240 others(40): Show c.240-4768_240-4767insTTTTTTTTTTTTTTTTTTTTTTT	TMEM131L	ENSG00000121210.16	transcript	ENST00000409959.8	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM131_chr2_97751336_98000948	97818481	G G	GGGGGGGG others(16): Show GGGGGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0129 a0014c0015t0002g0129	1	284	0.0035	23	c.118 others(40): Show c.1183+131_1183+132insTCCCCCCCCCCCCCCCCCCCCCC	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	12/40			chr2	TogoVar
TMEM131_chr2_97751336_98000948	97838426	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	284	0.0035	23	c.724 others(40): Show c.724-1292_724-1270dupAAAAAAAAAAAAAAAAAAAAAAA	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	7/40			chr2	TogoVar
TMEM131_chr2_97751336_98000948	97943037	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18982.hp1 HG03710.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0276 a0001c0002t0001g0218 a0001c0002t0001g0276	2	284	0.0070	23	c.188 others(42): Show c.188-15551_188-15550insCTTTCTTTCTTTCTTTCTTTCTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar
TMEM132B_chr12_125181386_125667369	125190836	G G	GTGTTGAT others(16): Show GTGTTGATGGGGAAGGGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0014 a0002c0014t0014	a0002c0014t0014g0021 a0002c0014t0014g0021	1	128	0.0078	23	c.67+ others(38): Show c.67+3972_67+3973insTTGATGGGGAAGGGGTGGTGATG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125190882	A A	ATGGTGAT others(16): Show ATGGTGATGGGGAAGGGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02886.hp2 HG02970.hp2 others(6): Show HG01361.hp1 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(5): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0002c0006 a0002c0029 a0002c0038 a0004c0009	a0001c0002t0023 a0001c0003t0009 a0001c0004t0044 others(6): Show a0001c0002t0023 a0001c0003t0009 a0001c0004t0044 a0002c0005t0002 a0002c0005t0039 a0002c0006t0003 a0002c0029t0017 a0002c0038t0002 a0004c0009t0010	a0001c0002t0023g0022 a0001c0003t0009g0027 a0001c0004t0044g0023 others(6): Show a0001c0002t0023g0022 a0001c0003t0009g0027 a0001c0004t0044g0023 a0002c0005t0002g0084 a0002c0005t0039g0024 a0002c0006t0003g0003 a0002c0029t0017g0060 a0002c0038t0002g0026 a0004c0009t0010g0025	9	128	0.0703	23	c.67+ others(38): Show c.67+4039_67+4061dupGTGGTGATGGGGAAGGGGTGGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125190913	G G	GGGGAAGG others(16): Show GGGGAAGGGGTGGTGGTGGTGATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00639.hp2 others(53): Show HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp2 NA18949.hp1 NA18964.hp1 NA18984.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0002 a0001c0003 a0001c0004 others(20): Show a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0023 a0001c0024 a0001c0027 a0001c0035 a0001c0037 a0002c0001 a0002c0005 a0002c0006 a0002c0008 a0002c0010 a0002c0014 a0002c0020 a0003c0030 a0004c0009 a0005c0016 a0005c0021 a0005c0028 a0007c0015	a0001c0002t0001 a0001c0002t0009 a0001c0002t0049 others(47): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0049 a0001c0003t0001 a0001c0003t0006 a0001c0003t0020 a0001c0003t0024 a0001c0003t0027 a0001c0003t0034 a0001c0003t0045 a0001c0004t0001 a0001c0004t0046 a0001c0004t0047 a0001c0011t0001 a0001c0012t0048 a0001c0023t0038 a0001c0024t0006 a0001c0027t0009 a0001c0035t0032 a0001c0037t0006 a0002c0001t0002 a0002c0001t0007 a0002c0001t0012 a0002c0001t0013 a0002c0001t0014 a0002c0001t0018 a0002c0001t0022 a0002c0001t0026 a0002c0001t0029 a0002c0001t0036 a0002c0005t0007 a0002c0005t0014 a0002c0005t0033 a0002c0005t0043 a0002c0006t0002 a0002c0006t0003 a0002c0006t0007 a0002c0006t0040 a0002c0008t0002 a0002c0008t0003 a0002c0010t0002 a0002c0014t0003 a0002c0020t0011 a0003c0030t0011 a0004c0009t0016 a0004c0009t0028 a0005c0016t0010 a0005c0021t0016 a0005c0028t0010 a0007c0015t0001	a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0033 others(53): Show a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0033 a0001c0002t0009g0037 a0001c0002t0049g0124 a0001c0003t0001g0046 a0001c0003t0006g0039 a0001c0003t0020g0049 a0001c0003t0024g0044 a0001c0003t0027g0064 a0001c0003t0034g0042 a0001c0003t0045g0047 a0001c0004t0001g0043 a0001c0004t0001g0123 a0001c0004t0046g0036 a0001c0004t0047g0031 a0001c0011t0001g0028 a0001c0011t0001g0034 a0001c0012t0048g0068 a0001c0023t0038g0038 a0001c0024t0006g0041 a0001c0027t0009g0013 a0001c0035t0032g0061 a0001c0037t0006g0016 a0002c0001t0002g0030 a0002c0001t0007g0069 a0002c0001t0012g0063 a0002c0001t0013g0019 a0002c0001t0014g0058 a0002c0001t0018g0056 a0002c0001t0022g0010 a0002c0001t0026g0040 a0002c0001t0029g0032 a0002c0001t0036g0011 a0002c0005t0007g0029 a0002c0005t0014g0012 a0002c0005t0033g0057 a0002c0005t0043g0062 a0002c0006t0002g0050 a0002c0006t0003g0018 a0002c0006t0003g0020 a0002c0006t0007g0017 a0002c0006t0040g0048 a0002c0008t0002g0067 a0002c0008t0003g0014 a0002c0010t0002g0053 a0002c0010t0002g0055 a0002c0014t0003g0052 a0002c0020t0011g0054 a0003c0030t0011g0051 a0004c0009t0016g0065 a0004c0009t0028g0059 a0005c0016t0010g0094 a0005c0021t0016g0066 a0005c0028t0010g0045 a0007c0015t0001g0035	56	128	0.4375	23	c.67+ others(38): Show c.67+4061_67+4062insGTGGTGATAGGGAAGGGGTGGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125410517	G G	GGAGTGGA others(16): Show GGAGTGGAGTGAGTGGAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02723.hp1 others(1): Show HG02258.hp2 HG02630.hp2 HG02723.hp1 HG03225.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0012 a0002c0010 others(1): Show a0001c0003 a0001c0012 a0002c0010 a0006c0040	a0001c0003t0045 a0001c0012t0048 a0002c0010t0002 others(1): Show a0001c0003t0045 a0001c0012t0048 a0002c0010t0002 a0006c0040t0031	a0001c0003t0045g0047 a0001c0012t0048g0068 a0002c0010t0002g0121 others(1): Show a0001c0003t0045g0047 a0001c0012t0048g0068 a0002c0010t0002g0121 a0006c0040t0031g0077	4	128	0.0313	23	c.960 others(40): Show c.960-5004_960-5003insAGTGGAGTGGAGTGAGTGGAGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128566189	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0002 a0005c0034t0002	a0005c0034t0002g0084 a0005c0034t0002g0084	1	170	0.0059	23	c.112 others(44): Show c.1121+22104_1121+22105insAAAAAAAAAAAAAAAAAAAAAAA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128711534	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02738.hp1 HG02738.hp2 others(1): Show HG01192.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1	a0007 a0009 a0019 others(1): Show a0007 a0009 a0019 a0031	a0007c0080 a0009c0003 a0019c0031 others(1): Show a0007c0080 a0009c0003 a0019c0031 a0031c0079	a0007c0080t0002 a0009c0003t0001 a0019c0031t0001 others(1): Show a0007c0080t0002 a0009c0003t0001 a0019c0031t0001 a0031c0079t0001	a0007c0080t0002g0155 a0009c0003t0001g0128 a0019c0031t0001g0040 others(1): Show a0007c0080t0002g0155 a0009c0003t0001g0128 a0019c0031t0001g0040 a0031c0079t0001g0030	4	170	0.0235	23	c.52 others(34): Show c.5239_*5240insAAAAAAAAAAAAAAAAAAAAAAA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding		3624		chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129839117	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG01891.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0050 a0001c0002t0004g0023 a0001c0001t0003g0050 a0001c0002t0004g0023	2	94	0.0213	23	c.79+ others(40): Show c.79+64121_79+64143dupAAAAAAAAAAAAAAAAAAAAAAA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132E_chr17_34574582_34644318	34627473	T T	TGCGTGCG others(16): Show TGCGTGCGCGCAGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0091 a0001c0003t0091	a0001c0003t0091g0332 a0001c0003t0091g0332	1	404	0.0025	23	c.998 others(38): Show c.998+417_998+418insCGTGCGCGCAGCGCGCGCGCGCG	TMEM132E	ENSG00000181291.8	transcript	ENST00000631683.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM135_chr11_87032934_87333824	87092801	T T	TTTTTACT others(16): Show TTTTTACTTTTTGTAGTCTGTTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG03486.hp1 others(1): Show HG02486.hp2 HG02809.hp1 HG03486.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0015 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0032 a0002c0002t0039	a0001c0001t0003g0128 a0001c0001t0015g0127 a0001c0001t0032g0125 others(1): Show a0001c0001t0003g0128 a0001c0001t0015g0127 a0001c0001t0032g0125 a0002c0002t0039g0126	4	274	0.0146	23	c.396 others(40): Show c.396+1418_396+1440dupGTAGTCTGTTGGTTTTACTTTTT	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM135_chr11_87032934_87333824	87159617	A A	ACACACAC others(16): Show ACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	274	0.0037	23	c.462 others(40): Show c.462+2212_462+2213insACACACACACACACACACACCCC	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM135_chr11_87032934_87333824	87159617	A A	ACACACAC others(16): Show ACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	274	0.0037	23	c.462 others(40): Show c.462+2212_462+2213insACACACACACACACACACCCCCC	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM135_chr11_87032934_87333824	87203032	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	274	0.0037	23	c.463 others(42): Show c.463-33602_463-33580dupAAAAAAAAAAAAAAAAAAAAAAA	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 8696 hits)