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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TEX11_chrX_70523940_70913711	70577753	C C	CAGTCTCT others(42): Show CAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 NA20752.hp1 others(1): Show HG02647.hp1 HG02723.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0067	4	229	0.0175	49	c.214 others(70): Show c.2140+13997_2140+13998insCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAGACT		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	25/29						chrX	TogoVar
TEX19_chr17_82354247_82368775	82359797	C C	CCCCTCAG others(42): Show CCCCTCAGTTTCCCCGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	380	0.0026	49	c.-27 others(66): Show c.-272+526_-272+527insGTTTCCCTCAAATTTCCCTCAGTTTCCC TCAGGTTCCCTCAGTTTCCCC		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
TFDP2_chr3_141939428_142154544	141968405	T T	TATATATA others(42): Show TATATATAACATATATATAACATATATATCATATATATAACATATATATC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02970.hp1 others(3): Show HG02280.hp2 HG02647.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0036 a0001c0001t0059 others(2): Show a0001c0001t0011 a0001c0001t0036 a0001c0001t0059 a0001c0001t0063 a0001c0001t0107	a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0036g0008 others(3): Show a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0036g0008 a0001c0001t0059g0240 a0001c0001t0063g0239 a0001c0001t0107g0027	6	252	0.0238	49	c.732 others(66): Show c.732+1667_732+1668insGATATATATGTTATATATATGATATATA TGTTATATATATGTTATATAT		TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12						chr3	TogoVar
TFPI_chr2_187459230_187559435	187557252	T T	TCTGCCCG others(42): Show TCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03139.hp2 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0150 a0001c0001t0034g0149 a0001c0001t0008g0150 a0001c0001t0034g0149	2	344	0.0058	49	c.-30 others(60): Show c.-3056_-3055insGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCAG		TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding					2818		chr2	TogoVar
THADA_chr2_43225851_43601038	43515191	A A	ATAATATA others(42): Show ATAATATATAATATTTTATATATAATATATAATATATAATATATAATATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01099.hp1 others(4): Show HG00642.hp1 HG00738.hp2 HG01099.hp1 HG02735.hp1 HG02809.hp2 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0006t0001g0082 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0006t0001g0082 a0001c0006t0001g0157 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0160	7	206	0.0340	49	c.337 others(68): Show c.3375-6412_3375-6411insAATATTATATATTATATATTATATAT TATATATAAAATATTATATATTA		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37						chr2	TogoVar
THBS2_chr6_169210785_169258846	169242600	A A	ATTCCCAC others(42): Show ATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCTATCTTCCCATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0261 a0001c0003t0002g0261	1	396	0.0025	49	c.695 others(64): Show c.695-643_695-642insGATGGGAAGATAGGAAGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAA		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21						chr6	TogoVar
THBS2_chr6_169210785_169258846	169242832	C C	CTTCCCAC others(42): Show CTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG03579.hp2 others(1): Show HG02486.hp2 HG03098.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0035	a0001c0001t0001g0331 a0001c0001t0004g0043 a0001c0001t0014g0330 others(1): Show a0001c0001t0001g0331 a0001c0001t0004g0043 a0001c0001t0014g0330 a0001c0001t0035g0329	4	396	0.0101	49	c.695 others(64): Show c.695-875_695-874insTGTGGGAAGGTGGGAATGTGGGAAGGTGGG AAGGTGGGAGCAGTGGGAA		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21						chr6	TogoVar
THBS2_chr6_169210785_169258846	169243087	T T	TGCTCCCA others(42): Show TGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	396	0.0025	49	c.695 others(66): Show c.695-1130_695-1129insGGTGGGAAGGTGGGAAGGTGGGAATGTG GGAAGGTGGGAAGGTGGGAGC		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21						chr6	TogoVar
THEG_chr19_356747_381026	377284	C C	CCCTCTGT others(42): Show CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	370	0.0027	49	c.-13 others(60): Show c.-1315_-1314insAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1259		chr19	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCACCC others(42): Show CCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	370	0.0027	49	c.-13 others(60): Show c.-1351_-1350insCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGG GAGAGGCTGGGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1295		chr19	TogoVar
THOC3_chr5_175954531_175973315	175967567	C C	CGTACCAC others(42): Show CGTACCACCACCAACGTACCACCAACGTACCACCAACGTACCACCAACGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp1 HG02809.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	259	0.0077	49	c.268 others(64): Show c.268-301_268-300insACGTTGGTGGTACGTTGGTGGTACGTTGGT GGTACGTTGGTGGTGGTAC		THOC3	ENSG00000051596.10	transcript	ENST00000265097.9	protein_coding	1/5						chr5	TogoVar
THPO_chr3_184366935_184383207	184382174	T T	TAGGATAA others(42): Show TAGGATAATGTGATTTGTTCAAGGTCACACAGCTAGTAAGTGGTGCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	436	0.0023	49	c.-42 others(60): Show c.-4294_-4246dupGGCTGCACCACTTACTAGCTGTGTGACCTTGAAC AAATCACATTATCCT		THPO	ENSG00000090534.20	transcript	ENST00000647395.1	protein_coding					3968		chr3	TogoVar
THSD8_chr19_12797069_12809389	12802284	C C	CTGCAAAG others(42): Show CTGCAAAGGGACCTTCCTCGGCGGGCTGCAAATCTCCACCCAGCTCCGCA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	420	0.0024	49	c.148 others(63): Show c.148+66_148+114dupTGCAAAGGGACCTTCCTCGGCGGGCTGCAAA TCTCCACCCAGCTCCGCA		THSD8	ENSG00000284491.3	transcript	ENST00000639810.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
TIAM1_chr21_31113418_31349261	31228235	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG06807.hp1 HG02976.hp2 HG03139.hp1 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0058 a0003c0005t0004g0097 a0003c0005t0004g0156 a0003c0005t0004g0058 a0003c0005t0004g0097 a0003c0005t0004g0156	3	212	0.0142	49	c.158 others(68): Show c.1585-2286_1585-2285insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTTTTTTTTT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27						chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228241	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0145 a0001c0002t0004g0145	1	212	0.0047	49	c.158 others(68): Show c.1585-2292_1585-2291insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTTTTTTTTT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27						chr21	TogoVar
TIMM22_chr17_992129_1008671	993788	C C	CTCACATA others(42): Show CTCACATAATCCACCCTCACATAATCCACCCTCACATAATCCACCCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(44): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01978.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG03491.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037	a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0004g0001 others(8): Show a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0009g0001 a0001c0001t0023g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0037g0040	47	439	0.1071	49	c.-33 others(60): Show c.-3355_-3354insTCACATAATCCACCCTCACATAATCCACCCTCAC ATAATCCACCCACAT		TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding					3340		chr17	TogoVar
TIMM44_chr19_7921718_7948666	7945271	G G	GAGAGAAA others(42): Show GAGAGAAAGGAAAGAAAGAAAACTACAGCAAAAAAAAGAAGAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0209 a0001c0003t0004g0209	1	384	0.0026	49	c.-16 others(60): Show c.-1621_-1620insTTCTTTCTTCTTCTTTTTTTTGCTGTAGTTTTCT TTCTTTCCTTTCTCT		TIMM44	ENSG00000104980.8	transcript	ENST00000270538.8	protein_coding					1606		chr19	TogoVar
TLDC2_chr20_36871138_36899235	36890421	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	384	0.0026	49	c.17 others(66): Show c.17+1018_*17+1019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC		TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding	6/6						chr20	TogoVar
TLE4_chr9_79566965_79731882	79699777	T T	TTGCTTTC others(42): Show TTGCTTTCCATTCACACAGGTGCAGTGCTTAGACTTCCCTGCCCATAGAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	258	0.0039	49	c.610 others(66): Show c.610-5006_610-5005insTGCTTTCCATTCACACAGGTGCAGTGCT TAGACTTCCCTGCCCATAGAC		TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	8/19						chr9	TogoVar
TLE4_chr9_79566965_79731882	79727760	T T	TATGTATA others(42): Show TATGTATATATATATGTGTATATATATATATATATATATATATATACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	258	0.0039	49	c.26 others(60): Show c.2616_*2617insATGTATATATATATGTGTATATATATATATATAT ATATATATATACACA		TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding					879		chr9	TogoVar
TLE4_chr9_79566965_79731882	79727760	T T	TATGTATA others(42): Show TATGTATATATATATGTGTATATATATATATATATATATATATATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02647.hp2 others(6): Show HG02055.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0154 others(6): Show a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0012g0043	9	258	0.0349	49	c.26 others(60): Show c.2616_*2617insATGTATATATATATGTGTATATATATATATATAT ATATATATATATACA		TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding					879		chr9	TogoVar
TM4SF1_chr3_149364022_149382649	149373378	A A	ATAAGCTG others(42): Show ATAAGCTGTATAATATAATGAATGAATGGCTAAACATTAACAACATAAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	434	0.0023	49	c.414 others(66): Show c.414-1512_414-1511insCTTTATGTTGTTAATGTTTAGCCATTCA TTCATTATATTATACAGCTTA		TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding	3/4						chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380197	C C	CGCCCGGC others(42): Show CGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19010.hp1 HG02572.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0001 a0001c0001t0001g0017	2	434	0.0046	49	c.-26 others(60): Show c.-2651_-2650insAGGGGGCTGATCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGC		TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding					2549		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380622	G G	GCCAGCCG others(42): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18980.hp1 NA19006.hp1 others(1): Show NA18948.hp2 NA18980.hp1 NA19006.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	434	0.0092	49	c.-30 others(60): Show c.-3076_-3075insTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCC GGACGGGGCGGCTGG		TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding					2974		chr3	TogoVar
TMC1_chr9_72516608_72843297	72841053	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG02976.hp1 others(1): Show HG02109.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0033 a0001c0003t0009 a0001c0003t0033	a0001c0003t0009g0013 a0001c0003t0009g0016 a0001c0003t0009g0017 others(1): Show a0001c0003t0009g0013 a0001c0003t0009g0016 a0001c0003t0009g0017 a0001c0003t0033g0094	4	182	0.0220	49	c.50 others(60): Show c.5080_*5081insGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGGGT		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding					2757		chr9	TogoVar
TMC1_chr9_72516608_72843297	72841503	G G	GGGGGGGG others(42): Show GGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0022 a0001c0001t0016g0022	1	182	0.0055	49	c.55 others(60): Show c.5530_*5531insGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGC		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding					3207		chr9	TogoVar
TMC5_chr16_19412883_19504113	19434269	T T	TATATAGA others(42): Show TATATAGATCTATATATAATATATATTATATGATCTATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	336	0.0030	49	c.-80 others(66): Show c.-80+3701_-80+3749dupTATTATATGATCTATATTATATATATAA TATAGATCTATATATAATATA		TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCO3_chr13_113486021_113555229	113543437	C C	CTGCCCTC others(42): Show CTGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 NA18968.hp2 HG00544.hp2 HG02080.hp1 NA18968.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0241 a0001c0006t0001g0243 a0001c0006t0001g0251 a0001c0006t0001g0241 a0001c0006t0001g0243 a0001c0006t0001g0251	3	368	0.0082	49	c.169 others(68): Show c.1691-3863_1691-3862insTGCCCTCCCTCTGTGGGTGACTCCAC TTCCTCCCCCTGCCCCCCGCCCT		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12						chr13	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGAAGGCC others(42): Show AGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGTGGAGGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	368	0.0027	49	c.378 others(64): Show c.378-250_378-249insCCCTCCACCCCCCACCCGGCCTTCTCCTCC ACCCCCCCACCCGGCCTTC		TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11						chr7	TogoVar
TMEM132D_chr12_129066726_129909025	129698637	A A	AGGGGAGG others(42): Show AGGGGAGGGAGGGGAGGGGAGAGGGGAGGGGAGGGGGAGGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp2 NA18906.hp2 HG02965.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001	a0001c0001t0007g0027 a0001c0001t0012g0002 a0001c0002t0001g0052 a0001c0001t0007g0027 a0001c0001t0012g0002 a0001c0002t0001g0052	3	94	0.0319	49	c.968 others(66): Show c.968+1172_968+1173insCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCTCCCC		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8						chr12	TogoVar
TMEM181_chr6_158555091_158640429	158636069	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	334	0.0030	49	c.41 others(60): Show c.4181_*4182insTATATATATATATATATATATATATATATATATA TATATATATATTTTT		TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding					641		chr6	TogoVar
TMEM199_chr17_28352647_28368683	28353520	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	372	0.0027	49	c.-41 others(60): Show c.-4151_-4150insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		TMEM199	ENSG00000244045.13	transcript	ENST00000292114.8	protein_coding					4126		chr17	TogoVar
TMEM200A_chr6_130361017_130448067	130447148	A A	ATTTTTTT others(42): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0005 a0001c0003t0004g0005	1	314	0.0032	49	c.52 others(60): Show c.5250_*5251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		TMEM200A	ENSG00000164484.12	transcript	ENST00000296978.4	protein_coding					4082		chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113817427	G G	GACACATC others(42): Show GACACATCCCCCCTCCCTCCACGGGACCACATCCCCCCTCCCTCCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0031 a0001c0001t0137g0031	1	260	0.0039	49	c.55 others(60): Show c.5524_*5525insACACATCCCCCCTCCCTCCACGGGACCACATCCC CCCTCCCTCCAGGGA		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					433		chr13	TogoVar
TMEM271_chr4_568880_581295	575102	G G	GGTGCGCC others(42): Show GGTGCGCCGCGAAGCCCGCGCAGTCCCCGGGGGCGGCCAGGTCCGACTCC	frameshift_variant frameshift_variant	HIGH	HG03239.hp2 HG03239.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0001	a0000c0009t0001g0000 a0000c0009t0001g0000	1	352	0.0028	49	c.912 others(56): Show c.912_960dupGGAGTCGGACCTGGCCGCCCCCGGGGACTGCGCGGGCT TCGCGGCGCAC	p.His others(5): Show p.His321fs	TMEM271	ENSG00000273238.3	transcript	ENST00000610212.3	protein_coding	1/1	1193/2416	960/1158	320/385			chr4	TogoVar
TMEM271_chr4_568880_581295	576951	G G	GGGGGGGG others(42): Show GGGGGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	352	0.0028	49	c.-89 others(58): Show c.-890_-889insAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCT TCCCACCCCCCCC		TMEM271	ENSG00000273238.3	transcript	ENST00000610212.3	protein_coding					657		chr4	TogoVar
TMEM65_chr8_124301189_124377701	124302505	A A	ACATATTA others(42): Show ACATATTATTCTTTTATATATTTATATAAATATATATTCTTTTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	348	0.0029	49	c.11 others(62): Show c.11454_*11455insAATATATAAAAGAATATATATTTATATAAATA TATAAAAGAATAATATG		TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding					3683		chr8	TogoVar
TMIGD1_chr17_30311333_30339057	30319261	A A	AAAAAAAA others(42): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	348	0.0029	49	c.641 others(64): Show c.641-349_641-348insATATATATATATATATATATATATATATAT ATATATATATATTTTTTTT		TMIGD1	ENSG00000182271.13	transcript	ENST00000328886.5	protein_coding	4/6						chr17	TogoVar
TMPRSS12_chr12_50837926_50892884	50872863	A A	ATGTATAT others(42): Show ATGTATATATGTACATATATATGACGTATATATGTACATATATATGACGT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	390	0.0026	49	c.653 others(68): Show c.653-12383_653-12382insTGTATATATGTACATATATATGACGT ATATATGTACATATATATGACGT		TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4						chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474531	G G	GTGAAGGC others(42): Show GTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGGGGTAAGGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp2 HG01175.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0001 a0001c0022t0001 a0001c0002t0001 a0001c0022t0001	a0001c0002t0001g0325 a0001c0022t0001g0336 a0001c0002t0001g0325 a0001c0022t0001g0336	2	382	0.0052	49	c.728 others(66): Show c.728-1036_728-1035insTCCCCTTACCCCCCTCACTCATCCCCTT ACCCCCTCACTCACGCCTTCA		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCCCCCC others(42): Show CTCCCCCCTCTCCTCTCCCTCCCCTCTCCCCTCCCCTTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0040 a0001c0004t0002g0040	1	114	0.0088	49	c.-25 others(68): Show c.-25-12120_-25-12119insCCCCCTCTCCTCTCCCTCCCCTCTCC CCTCCCCTTCCTCCCTTTCCTTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC2_chr12_82681906_83139866	82876075	A A	ATGATGGT others(42): Show ATGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03239.hp2 HG01975.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0080 a0001c0001t0001g0052 a0001c0001t0002g0080	2	96	0.0208	49	c.654 others(68): Show c.654+18540_654+18541insATGGTGATGGTGATTAGTATTCATAA TGGTGGTGGTGGTGGTGGTGGTG		TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMX2_chr11_57707593_57745973	57717718	A A	AGGGAGAA others(42): Show AGGGAGAAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03471.hp2 HG01257.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0078 a0001c0001t0002g0079	2	344	0.0058	49	c.189 others(66): Show c.189+4917_189+4918insAGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGA		TMX2	ENSG00000213593.10	transcript	ENST00000278422.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693129	C C	CCCTTCCT others(42): Show CCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCCACCATAAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	33	0.0303	49	c.-36 others(60): Show c.-3639_-3638insCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGC CCCCACCATAAGCAG		TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding					3522		chr20	TogoVar
TNK2_chr3_195858364_195913551	195887484	G G	GTTATTAC others(42): Show GTTATTACCTATTTAGCTATTTTAACTAAGTCAGTGTCTAACTTGACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG02055.hp1 others(14): Show HG01175.hp1 HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02523.hp2 HG02647.hp2 HG02717.hp1 HG03130.hp1 HG03209.hp1 HG06807.hp1 NA18906.hp2 NA18940.hp2 NA18948.hp2 NA18979.hp1 NA19007.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0002 a0001c0003 a0002c0008 others(2): Show a0001c0002 a0001c0003 a0002c0008 a0002c0023 a0026c0048	a0001c0002t0001 a0001c0003t0001 a0002c0008t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0002c0008t0001 a0002c0023t0001 a0026c0048t0001	a0001c0002t0001g0130 a0001c0002t0001g0179 a0001c0002t0001g0181 others(14): Show a0001c0002t0001g0130 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0003t0001g0122 a0002c0008t0001g0182 a0002c0008t0001g0204 a0002c0023t0001g0207 a0026c0048t0001g0123	17	372	0.0457	49	c.164 others(64): Show c.164-486_164-438dupTGTGTCAAGTTAGACACTGACTTAGTTAAA ATAGCTAAATAGGTAATAA		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	2/15						chr3	TogoVar
TOR3A_chr1_179077070_179100996	179083594	G G	GGGGGGGG others(42): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	418	0.0024	49	c.373 others(64): Show c.373+546_373+547insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGAGGGGG		TOR3A	ENSG00000186283.14	transcript	ENST00000367627.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP63_chr3_189626389_189902276	189761416	G G	GGGGCAAA others(42): Show GGGGCAAAATGCCACCAGTAACTTTGCTAAATCATAACAAGAGTCATCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01169.hp1 HG00280.hp2 HG00741.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0104 a0001c0001t0002g0259 a0001c0001t0004g0090 a0001c0001t0002g0104 a0001c0001t0002g0259 a0001c0001t0004g0090	3	312	0.0096	49	c.324 others(68): Show c.324+22643_324+22691dupGGGCAAAATGCCACCAGTAACTTTGC TAAATCATAACAAGAGTCATCTT		TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189626389_189902276	189901902	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0080 a0001c0001t0007g0080	1	312	0.0032	49	c.74 others(60): Show c.7400_*7401insATATATATATATATATATATATATATATATATAT ATATATATATATATA		TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding					4627		chr3	TogoVar
TP63_chr3_189784659_189902276	189901902	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0310 a0001c0001t0028g0310	1	398	0.0025	49	c.74 others(60): Show c.7400_*7401insATATATATATATATATATATATATATATATATAT ATATATATATATATA		TP63	ENSG00000073282.14	transcript	ENST00000354600.10	protein_coding					4627		chr3	TogoVar
TPPP_chr5_654862_698352	667999	C C	CCGTCAGG others(42): Show CCGTCAGGGAAGTGCGGACAAGCACACTGGAGAGGGGTCCGCGTGGGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0052 a0001c0006t0052	a0001c0006t0052g0348 a0001c0006t0052g0348	1	409	0.0024	49	c.312 others(66): Show c.312-1877_312-1876insAGGCCCACGCGGACCCCTCTCCAGTGTG CTTGTCCGCACTTCCCTGACG		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3						chr5	TogoVar

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Search Results (Total: 2057 hits)