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
TMCO3_chr13_113486021_113555229	113509273	GGGCTTGG others(40): Show GGGCTTGGTGGGTGGGTCCCCCCTGGAGCTTCCTGTGTTAGGATGGCA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0312 a0002c0004t0005g0312	1	368	0.0027	-47	c.103 others(64): Show c.1039-935_1039-889delTCCTGTGTTAGGATGGCAGGCTTGGTGG GTGGGTCCCCCCTGGAGCT		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132B_chr12_125181386_125667369	125190523	GGGGAAGG others(40): Show GGGGAAGGGGTGGTGATGGTGATGGTGATGGTGATAGTGATGGTGATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp2 HG02109.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0022 a0002c0001 a0002c0022	a0002c0001t0037 a0002c0022t0011 a0002c0001t0037 a0002c0022t0011	a0002c0001t0037g0093 a0002c0022t0011g0092 a0002c0001t0037g0093 a0002c0022t0011g0092	2	128	0.0156	-47	c.67+ others(62): Show c.67+3669_67+3715delGTGATGGTGATGGTGATGGTGATAGTGATG GTGATAGGGAAGGGGTG		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125527356	CCCTTCCA others(40): Show CCCTTCCATCCACCCTCCACTCTTCCATCCACCCATCCACCCATCCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02723.hp1 others(2): Show HG01884.hp1 HG02109.hp2 HG02723.hp1 HG03579.hp2 NA19043.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0004 a0002c0010 others(2): Show a0001c0003 a0001c0004 a0002c0010 a0002c0022 a0006c0040	a0001c0003t0030 a0001c0004t0044 a0002c0010t0002 others(2): Show a0001c0003t0030 a0001c0004t0044 a0002c0010t0002 a0002c0022t0011 a0006c0040t0031	a0001c0003t0030g0004 a0001c0004t0044g0023 a0002c0010t0002g0055 others(2): Show a0001c0003t0030g0004 a0001c0004t0044g0023 a0002c0010t0002g0055 a0002c0022t0011g0092 a0006c0040t0031g0077	5	128	0.0391	-47	c.129 others(66): Show c.1293+7746_1293+7792delTCCACTCTTCCATCCACCCATCCACC CATCCAGCCTTCCATCCACCC		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129230216	TTCCCCAG others(40): Show TTCCCCAGCCTGGCCATCCCCTTCCTCAGCTCCTTCTGTGTAGGGGTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG03540.hp2 others(1): Show HG02809.hp1 HG03195.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001	a0001c0001t0006g0067 a0001c0001t0007g0027 a0001c0002t0001g0030 others(1): Show a0001c0001t0006g0067 a0001c0001t0007g0027 a0001c0002t0001g0030 a0001c0002t0001g0052	4	94	0.0426	-47	c.130 others(68): Show c.1300-20600_1300-20554delGACCCCTACACAGAAGGAGCTGAG GAAGGGGATGGCCAGGCTGGGGA		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129799386	GTATATAT others(40): Show GTATATATACATATTATATATGTATATATATGTGTATATATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(90): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0002c0003 a0003c0005 a0004c0017 a0005c0011 a0006c0015 a0007c0012 a0008c0009 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0018 a0001c0004t0001 a0001c0004t0006 a0001c0004t0008 a0001c0006t0002 a0001c0007t0004 a0001c0007t0019 a0001c0010t0005 a0001c0013t0017 a0001c0014t0001 a0001c0016t0003 a0002c0003t0001 a0002c0003t0008 a0002c0003t0009 a0002c0003t0026 a0003c0005t0001 a0003c0005t0023 a0004c0017t0001 a0005c0011t0001 a0006c0015t0024 a0007c0012t0003 a0008c0009t0002 a0009c0008t0004	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(90): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0020 a0001c0001t0003g0032 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0070 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0005g0056 a0001c0001t0005g0071 a0001c0001t0006g0007 a0001c0001t0006g0051 a0001c0001t0006g0067 a0001c0001t0007g0006 a0001c0001t0007g0014 a0001c0001t0007g0027 a0001c0001t0007g0029 a0001c0001t0008g0092 a0001c0001t0010g0034 a0001c0001t0010g0048 a0001c0001t0012g0002 a0001c0001t0014g0004 a0001c0001t0015g0005 a0001c0001t0016g0072 a0001c0001t0020g0073 a0001c0001t0021g0044 a0001c0001t0022g0086 a0001c0001t0025g0091 a0001c0001t0027g0094 a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0074 a0001c0002t0004g0009 a0001c0002t0004g0011 a0001c0002t0004g0023 a0001c0002t0004g0035 a0001c0002t0004g0077 a0001c0002t0011g0001 a0001c0002t0018g0066 a0001c0004t0001g0036 a0001c0004t0001g0046 a0001c0004t0001g0057 a0001c0004t0001g0060 a0001c0004t0006g0049 a0001c0004t0008g0089 a0001c0006t0002g0041 a0001c0006t0002g0076 a0001c0007t0004g0075 a0001c0007t0019g0043 a0001c0010t0005g0064 a0001c0013t0017g0028 a0001c0014t0001g0062 a0001c0016t0003g0080 a0002c0003t0001g0025 a0002c0003t0001g0031 a0002c0003t0001g0054 a0002c0003t0001g0061 a0002c0003t0008g0090 a0002c0003t0009g0017 a0002c0003t0009g0022 a0002c0003t0026g0093 a0003c0005t0001g0019 a0003c0005t0001g0069 a0003c0005t0023g0088 a0004c0017t0001g0016 a0005c0011t0001g0055 a0006c0015t0024g0087 a0007c0012t0003g0045 a0008c0009t0002g0079 a0009c0008t0004g0047	93	94	0.9894	-47	c.80- others(64): Show c.80-98735_80-98689delTATACACATATATACACATATATATACA TATATAATATGTATATATA		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM144_chr4_158205486_158260416	158256922	GTATTATA others(40): Show GTATTATATATTATATATAGTATTATATATATTATATATAGTATTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03130.hp2 others(2): Show HG02280.hp1 HG02976.hp1 HG03130.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0034 a0001c0002t0036 others(1): Show a0001c0001t0007 a0001c0001t0034 a0001c0002t0036 a0001c0002t0070	a0001c0001t0007g0033 a0001c0001t0034g0049 a0001c0002t0036g0025 others(1): Show a0001c0001t0007g0033 a0001c0001t0034g0049 a0001c0002t0036g0025 a0001c0002t0070g0066	5	274	0.0183	-47	c.33 others(58): Show c.3396_*3442delTATTATATATTATATATAGTATTATATATATTAT ATATAGTATTATA		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1507		chr4	TogoVar
TMEM167A_chr5_83047846_83082394	83080076	CTTTGCTA others(40): Show CTTTGCTAAATTAAAAGTCCCTGGAGAGGAGGAATTATAATGGAGGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0161 a0001c0001t0012g0161	1	364	0.0028	-47	c.-28 others(58): Show c.-2800_-2754delTTCCTCCATTATAATTCCTCCTCTCCAGGGACTT TTAATTTAGCAAA		TMEM167A	ENSG00000174695.10	transcript	ENST00000502346.2	protein_coding					2683		chr5	TogoVar
TMEM87B_chr2_112050269_112124314	112054827	CCCCGCCT others(40): Show CCCCGCCTCCACACGGCCCCGCCTCCACACGGCCCCGCCTCCACACGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02572.hp2 others(1): Show HG01256.hp2 HG01258.hp1 HG02572.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0002c0002t0004 a0001c0001t0026 a0002c0002t0004	a0001c0001t0026g0015 a0002c0002t0004g0111 a0002c0002t0004g0113 others(1): Show a0001c0001t0026g0015 a0002c0002t0004g0111 a0002c0002t0004g0113 a0002c0002t0004g0114	4	316	0.0127	-47	c.-76 others(56): Show c.-764_-718delCCCGCCTCCACACGGCCCCGCCTCCACACGGCCCCG CCTCCACACGG		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding					441		chr2	TogoVar
TMF1_chr3_69014827_69057333	69026672	CTAGACTT others(40): Show CTAGACTTGGTTAGATCATCACAGAACCCATTTATTACAACAATGTAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG03579.hp2 HG02559.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0025 a0001c0008t0013g0052 a0001c0008t0013g0025 a0001c0008t0013g0052	3	402	0.0075	-47	c.275 others(64): Show c.2758-622_2758-576delTTACATTGTTGTAATAAATGGGTTCTGT GATGATCTAACCAAGTCTA		TMF1	ENSG00000144747.17	transcript	ENST00000398559.7	protein_coding	13/16						chr3	TogoVar
TMPRSS12_chr12_50837926_50892884	50881973	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0044 a0004c0004t0001g0044	1	390	0.0026	-47	c.653 others(64): Show c.653-3271_653-3225delAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATATATATATATA		TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474783	GGTGGGTG others(40): Show GGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02451.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0004 a0001c0004t0001 a0002c0003t0004	a0001c0004t0001g0335 a0002c0003t0004g0220 a0001c0004t0001g0335 a0002c0003t0004g0220	2	382	0.0052	-47	c.728 others(64): Show c.728-1334_728-1288delTCACCCCTTCACCCCCTCACTCACCACC TCACCCACCCCTCACCCAC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMPRSS5_chr11_113682550_113711308	113710962	AATTGAAA others(40): Show AATTGAAATTATCAGGCTACTAAGAAAATAACTTAAAATGTATATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	-47	c.-47 others(58): Show c.-4785_-4739delACTATATACATTTTAAGTTATTTTCTTAGTAGCC TGATAATTTCAAT		TMPRSS5	ENSG00000166682.13	transcript	ENST00000299882.11	protein_coding					4655		chr11	TogoVar
TMTC1_chr12_29495840_29788942	29644043	TTTATATA others(40): Show TTTATATATAAATATAAATATATAATTTATAGATAAATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp1 HG02922.hp1 others(4): Show HG01496.hp1 HG02698.hp1 HG02922.hp1 HG03130.hp1 NA18942.hp2 NA19065.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0002c0003 a0002c0027	a0001c0001t0014 a0001c0002t0003 a0001c0005t0069 others(4): Show a0001c0001t0014 a0001c0002t0003 a0001c0005t0069 a0001c0006t0075 a0001c0007t0030 a0002c0003t0012 a0002c0027t0082	a0001c0001t0014g0126 a0001c0002t0003g0070 a0001c0005t0069g0203 others(4): Show a0001c0001t0014g0126 a0001c0002t0003g0070 a0001c0005t0069g0203 a0001c0006t0075g0004 a0001c0007t0030g0019 a0002c0003t0012g0230 a0002c0027t0082g0269	7	276	0.0254	-47	c.939 others(66): Show c.939-10754_939-10708delTTATATTTATATTTATCTATAAATTA TATATTTATATTTATATATAA		TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17						chr12	TogoVar
TNK2_chr3_195858364_195913551	195874712	TCTCCCTC others(40): Show TCTCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01496.hp2 others(29): Show HG00423.hp2 HG00558.hp2 HG01496.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18964.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19081.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0016 a0022	a0001c0003 a0001c0019 a0001c0053 others(6): Show a0001c0003 a0001c0019 a0001c0053 a0002c0008 a0002c0018 a0003c0054 a0005c0056 a0016c0051 a0022c0055	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(9): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0013 a0001c0019t0003 a0001c0053t0003 a0002c0008t0002 a0002c0018t0003 a0003c0054t0001 a0005c0056t0002 a0016c0051t0001 a0022c0055t0003	a0001c0003t0001g0122 a0001c0003t0001g0138 a0001c0003t0001g0149 others(29): Show a0001c0003t0001g0122 a0001c0003t0001g0138 a0001c0003t0001g0149 a0001c0003t0001g0168 a0001c0003t0001g0171 a0001c0003t0001g0276 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0135 a0001c0003t0003g0137 a0001c0003t0003g0140 a0001c0003t0003g0142 a0001c0003t0003g0154 a0001c0003t0003g0170 a0001c0003t0005g0139 a0001c0003t0005g0196 a0001c0003t0005g0197 a0001c0003t0005g0199 a0001c0003t0005g0201 a0001c0003t0005g0257 a0001c0003t0013g0365 a0001c0019t0003g0132 a0001c0019t0003g0133 a0001c0019t0003g0194 a0001c0053t0003g0129 a0002c0008t0002g0267 a0002c0018t0003g0152 a0003c0054t0001g0134 a0005c0056t0002g0040 a0016c0051t0001g0208 a0022c0055t0003g0153	32	372	0.0860	-47	c.125 others(66): Show c.1257-2289_1257-2243delGGAGCTTCCTGTGCCTCGGAGCGTGC GTGGGCGCCATCCCGAGGGAG		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
TNK2_chr3_195858364_195913551	195880624	CAGCAATG others(40): Show CAGCAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCACCTA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0263 a0001c0009t0002g0263	1	372	0.0027	-47	c.887 others(64): Show c.887+1380_887+1426delTAGGTGATACAGGGATATATGCTGTGTC CTCTTCAAGGGGCATTGCT		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15						chr3	TogoVar
TOLLIP_chr11_1269371_1314632	1294305	AGTGTGTC others(40): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01361.hp1 others(2): Show HG00735.hp1 HG00738.hp1 HG01361.hp1 HG03688.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0002t0008 a0001c0001t0008 a0001c0002t0002 a0001c0002t0008	a0001c0001t0008g0116 a0001c0002t0002g0117 a0001c0002t0008g0118 others(2): Show a0001c0001t0008g0116 a0001c0002t0002g0117 a0001c0002t0008g0118 a0001c0002t0008g0119 a0001c0002t0008g0120	5	348	0.0144	-47	c.183 others(64): Show c.183+1293_183+1339delCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGGAAAGGAGACACAC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294490	AGTGTGTC others(40): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19007.hp1 HG02129.hp2 NA19007.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0008c0013t0001 a0001c0001t0001 a0008c0013t0001	a0001c0001t0001g0074 a0008c0013t0001g0031 a0001c0001t0001g0074 a0008c0013t0001g0031	2	348	0.0058	-47	c.183 others(64): Show c.183+1108_183+1154delCGTGAGCCACGCGGGCTTTCGTAGAAAT GCAGGGAAAGGAGACACAC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294739	CCCTGCAT others(40): Show CCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG02258.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	348	0.0058	-47	c.183 others(62): Show c.183+859_183+905delAAAAGGAGACACACCGTGAGCCACGCGGGC TTTCGTAGAAATGCAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1295007	GGTGTGTC others(40): Show GGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCTGCGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0320	1	348	0.0029	-47	c.183 others(62): Show c.183+591_183+637delTGTGAGCCACGCAGGCTTTCGTAGAAATGC AGGGAAAGGAGACACAC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TOP1MT_chr8_143304324_143339880	143307705	GGCAGAGG others(40): Show GGCAGAGGGTCCCGCGCGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG03139.hp1 HG01884.hp1 HG02572.hp2 HG03139.hp1	a0003 a0012 a0003 a0012	a0003c0002 a0012c0017 a0003c0002 a0012c0017	a0003c0002t0001 a0012c0017t0001 a0003c0002t0001 a0012c0017t0001	a0003c0002t0001g0014 a0012c0017t0001g0367 a0003c0002t0001g0014 a0012c0017t0001g0367	3	430	0.0070	-47	c.16 others(58): Show c.1689_*1735delTGCCCTCTCCTCTGCCGCCCTCTTCTCTGCCGCG CGGGACCCTCTGC		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding					1618		chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143307971	GCGGCAGA others(40): Show GCGGCAGAGGAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGGTCCCGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	430	0.0023	-47	c.14 others(58): Show c.1423_*1469delTGCGGGACCCTCTGCCGCCCTCTCCTCTGCCGCC CTCTCCTCTGCCG		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding					1352		chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143307972	CGGCAGAG others(40): Show CGGCAGAGGAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGGTCCCGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0044 a0002c0034t0003g0044	1	430	0.0023	-47	c.14 others(58): Show c.1422_*1468delATGCGGGACCCTCTGCCGCCCTCTCCTCTGCCGC CCTCTCCTCTGCC		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding					1351		chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930575	GGGGTTAG others(40): Show GGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	466	0.0022	-47	c.49 others(58): Show c.4969_*5015delTAGGCCTCCCTAACCCCGGCCTCCCTAACCCTAG GCCTCCCTAACCC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4794		chr11	TogoVar
TRAF3_chr14_102772449_102916500	102916322	AGTGCTGG others(40): Show AGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCACCTTCCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0123 a0001c0001t0033g0123	1	296	0.0034	-47	c.10 others(60): Show c.10539_*10585delGTGCTGGGATTACAGGTGTGAGCCACTGTGCC CAGCCACCTTCCTTT		TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding					4823		chr14	TogoVar
TRAPPC10_chr21_44007309_44111552	44089026	GCTCTTCC others(40): Show GCTCTTCCCTGGCGCTGGTGGCACCTGTGCTATGTGCCGTGTTATCCT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03834.hp1 HG03041.hp2 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0021 a0002c0003t0006 a0002c0002t0021 a0002c0003t0006	a0002c0002t0021g0156 a0002c0003t0006g0167 a0002c0002t0021g0156 a0002c0003t0006g0167	2	254	0.0079	-47	c.277 others(64): Show c.2770-729_2770-683delATGTGCCGTGTTATCCTCTCTTCCCTGG CGCTGGTGGCACCTGTGCT		TRAPPC10	ENSG00000160218.13	transcript	ENST00000291574.9	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
TRAPPC9_chr8_139722725_140462744	139804685	CAACCACC others(40): Show CAACCACCACCACCCACCACCACCACCCACCACCGGCACCAAGCACCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp1 HG03209.hp1 HG01109.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0029 a0001c0003t0014 a0001c0004t0004 a0001c0001t0029 a0001c0003t0014 a0001c0004t0004	a0001c0001t0029g0077 a0001c0003t0014g0030 a0001c0004t0004g0094 a0001c0001t0029g0077 a0001c0003t0014g0030 a0001c0004t0004g0094	3	98	0.0306	-47	c.305 others(68): Show c.3056-72530_3056-72484delTGGTGCTTGGTGCCGGTGGTGGGT GGTGGTGGTGGGTGGTGGTGGTT		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22						chr8	TogoVar
TRHR_chr8_109081585_109126565	109087744	GCAGGCCT others(40): Show GCAGGCCTCCCCAACATAACAGACAGTATCTACGGTTCCTGGGTCTAT	G G	frameshift_variant frameshift_variant	HIGH	NA19059.hp2 NA19059.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0199 a0004c0007t0002g0199	1	378	0.0027	-47	c.233 others(54): Show c.233_279delCAGGCCTCCCCAACATAACAGACAGTATCTACGGTTCC TGGGTCTAT	p.Ala others(4): Show p.Ala78fs	TRHR	ENSG00000174417.3	transcript	ENST00000518632.2	protein_coding	2/3	620/3694	233/1197	78/398			chr8	TogoVar
TRIM13_chr13_49992042_50023467	50015085	AAAAAAAA others(40): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0306 a0001c0001t0306	a0001c0001t0306g0004 a0001c0001t0306g0004	1	390	0.0026	-47	c.19 others(58): Show c.1923_*1969delAAAAAAAAATATATATATATATATATATATATAT ATATATATATATA		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1923	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015087	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0126 a0001c0001t0148g0126	1	390	0.0026	-47	c.19 others(58): Show c.1925_*1971delAAAAAAATATATATATATATATATATATATATAT ATATATATATATA		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1925	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015089	AAAAAAAT others(40): Show AAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0122 a0001c0001t0145g0122	1	390	0.0026	-47	c.19 others(58): Show c.1927_*1973delAAAAATATATATATATATATATATATATATATAT ATATATATATATA		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1927	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM14_chr9_98079353_98124222	98123546	AGTGCAGT others(40): Show AGTGCAGTCCGCAATCGTGGCTCATAGCAACCTCCACCTCCCAGGTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	352	0.0028	-47	c.-44 others(58): Show c.-4405_-4359delGAACCTGGGAGGTGGAGGTTGCTATGAGCCACGA TTGCGGACTGCAC		TRIM14	ENSG00000106785.15	transcript	ENST00000341469.7	protein_coding					4325		chr9	TogoVar
TRIM56_chr7_101080481_101102967	101092559	CCCGTCCG others(40): Show CCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTCCCGGCCAGCCGCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0001 a0001c0001t0071g0001	1	420	0.0024	-47	c.30 others(58): Show c.3012_*3058delTCCCGGCCAGCCGCGCCGTCCGGGAGGGAGGTGG GGGGTCAGCCCCC		TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3				3012	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM56_chr7_101080481_101102967	101092592	TCCCGGCC others(40): Show TCCCGGCCAGCCGCGCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG01256.hp1 others(23): Show HG01081.hp2 HG01167.hp1 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01934.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG04199.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0009 a0001c0003 a0001c0005 a0001c0009	a0001c0003t0012 a0001c0003t0115 a0001c0005t0011 others(7): Show a0001c0003t0012 a0001c0003t0115 a0001c0005t0011 a0001c0005t0031 a0001c0005t0032 a0001c0005t0033 a0001c0005t0056 a0001c0005t0057 a0001c0009t0030 a0001c0009t0043	a0001c0003t0012g0001 a0001c0003t0012g0002 a0001c0003t0115g0001 others(9): Show a0001c0003t0012g0001 a0001c0003t0012g0002 a0001c0003t0115g0001 a0001c0005t0011g0001 a0001c0005t0011g0004 a0001c0005t0031g0004 a0001c0005t0032g0004 a0001c0005t0033g0004 a0001c0005t0056g0001 a0001c0005t0057g0004 a0001c0009t0030g0008 a0001c0009t0043g0008	26	420	0.0619	-47	c.30 others(58): Show c.3029_*3075delGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCC GGCCAGCCGCGCC		TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3				3029	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM56_chr7_101080481_101102967	101092629	GTCAGCCC others(40): Show GTCAGCCCCCGCCCGGCCAGCCGCGCCTTCCGGGAGGGAGGTGGGGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG01952.hp2 HG02083.hp2 others(14): Show HG00544.hp2 HG01952.hp2 HG02083.hp2 HG02735.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18612.hp2 NA18946.hp1 NA18966.hp1 NA18983.hp2 NA18990.hp2 NA19000.hp2 NA19030.hp1 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0008 a0001c0015 others(1): Show a0001c0003 a0001c0008 a0001c0015 a0003c0006	a0001c0003t0096 a0001c0008t0044 a0001c0008t0121 others(7): Show a0001c0003t0096 a0001c0008t0044 a0001c0008t0121 a0001c0008t0122 a0001c0008t0123 a0001c0015t0009 a0003c0006t0009 a0003c0006t0145 a0003c0006t0146 a0003c0006t0150	a0001c0003t0096g0001 a0001c0008t0044g0010 a0001c0008t0044g0021 others(9): Show a0001c0003t0096g0001 a0001c0008t0044g0010 a0001c0008t0044g0021 a0001c0008t0121g0010 a0001c0008t0122g0020 a0001c0008t0123g0010 a0001c0015t0009g0002 a0003c0006t0009g0001 a0003c0006t0009g0002 a0003c0006t0145g0001 a0003c0006t0146g0001 a0003c0006t0150g0001	17	420	0.0405	-47	c.30 others(58): Show c.3054_*3100delCCCCCGCCCGGCCAGCCGCGCCTTCCGGGAGGGA GGTGGGGGATCAG		TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3				3054	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM56_chr7_101080481_101102967	101092634	CCCCCGCC others(40): Show CCCCCGCCCGGCCAGCCGCGCCTTCCGGGAGGGAGGTGGGGGATCAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG04228.hp2 HG02723.hp2 HG03195.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0119 a0001c0001t0120 a0001c0001t0063 a0001c0001t0119 a0001c0001t0120	a0001c0001t0063g0001 a0001c0001t0119g0012 a0001c0001t0120g0012 a0001c0001t0063g0001 a0001c0001t0119g0012 a0001c0001t0120g0012	3	420	0.0071	-47	c.30 others(58): Show c.3073_*3119delGCCTTCCGGGAGGGAGGTGGGGGATCAGTCCCCG CCCGGCCAGCCGC		TRIM56	ENSG00000169871.13	transcript	ENST00000306085.11	protein_coding	3/3				3073	INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIML1_chr4_188134441_188152743	188151653	AGTGAGAG others(40): Show AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	228	0.0044	-47	c.42 others(58): Show c.4282_*4328delGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGTTGAGAAGGGG		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3911		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152669	GGGGTTGA others(40): Show GGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0053 a0004c0007t0001g0053	1	228	0.0044	-47	c.52 others(58): Show c.5298_*5344delGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA AGGGAGTGAGAGT		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4927		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152693	GGGGGTGA others(40): Show GGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	228	0.0044	-47	c.53 others(58): Show c.5322_*5368delGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGA		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4951		chr4	TogoVar
TRIML2_chr4_188086272_188114603	188113050	AATTCCAG others(40): Show AATTCCAGCAGAATTAAGAGGTCACCTTCACCTCACCTATTACAACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	430	0.0023	-47	c.-40 others(58): Show c.-4077_-4031delGTGTTGTAATAGGTGAGGTGAAGGTGACCTCTTA ATTCTGCTGGAAT		TRIML2	ENSG00000179046.9	transcript	ENST00000682553.1	protein_coding					3448		chr4	TogoVar
TRIOBP_chr22_37692048_37781556	37728517	CAACCGTG others(40): Show CAACCGTGTGGTCTCCAGCATTAGTATAATTCTTTCTTTGGCCTTAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0056 a0056	a0056c0062 a0056c0062	a0056c0062t0058 a0056c0062t0058	a0056c0062t0058g0235 a0056c0062t0058g0235	1	322	0.0031	-47	c.394 others(66): Show c.3947+2018_3947+2064delCGTGTGGTCTCCAGCATTAGTATAAT TCTTTCTTTGGCCTTAAAAAC		TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
TRPC3_chr4_121869481_121957060	121956815	GCGCAATC others(40): Show GCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0222 a0001c0014t0005g0222	1	344	0.0029	-47	c.-51 others(58): Show c.-5182_-5136delAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTG AGCCGAGATTGCG		TRPC3	ENSG00000138741.11	transcript	ENST00000379645.8	protein_coding					4756		chr4	TogoVar
TRPM4_chr19_49152792_49216836	49156698	TCCCCCTC others(40): Show TCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCTCAGAGTCTCTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02683.hp1 others(10): Show HG01109.hp1 HG02258.hp1 HG02683.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp1 NA18945.hp1 NA18960.hp1 NA18981.hp2 NA19010.hp2 NA19060.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0020c0017	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0011t0001 a0020c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0217 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0108 a0001c0003t0002g0088 a0001c0008t0001g0085 a0001c0011t0001g0084 a0020c0017t0001g0107	13	312	0.0417	-47	c.-11 others(58): Show c.-1168_-1122delCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCT CAGAGTCTCTGTC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding					1093		chr19	TogoVar
TSPAN15_chr10_69446465_69512666	69455559	CTTTCTTT others(40): Show CTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0308 a0001c0001t0003g0273 a0001c0001t0001g0308 a0001c0001t0003g0273	2	340	0.0059	-47	c.96+ others(62): Show c.96+3871_96+3917delTTCTTTCTTTCTCTTTTCTTTCTTTCTTTC TCTTTCTTTCTTTCTTT		TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPEAR_chr21_44492893_44716572	44504515	GGGAGGAG others(40): Show GGGAGGAGGCCGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGTCTCTT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18949.hp1 NA18951.hp1 others(2): Show NA18942.hp1 NA18949.hp1 NA18951.hp1 NA19056.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0002g0055 a0001c0001t0002g0112 others(2): Show a0001c0001t0001g0197 a0001c0001t0002g0055 a0001c0001t0002g0112 a0001c0001t0002g0169 a0001c0001t0002g0288	5	294	0.0170	-47	c.185 others(64): Show c.1856+218_1856+264delAAGAGACTTGCTTCCCCACTGTGGGCTC ACCGAGGCCGGCCTCCTCC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11						chr21	TogoVar
TTC5_chr14_20281227_20310951	20310603	GGGGGGCC others(40): Show GGGGGGCCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02293.hp1 HG03669.hp1 HG02056.hp1 HG02293.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0047g0117 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0047g0117	3	416	0.0072	-47	c.-47 others(58): Show c.-4713_-4667delACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGGCCCCC		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding					4653		chr14	TogoVar
TTF1_chr9_132370548_132411840	132378557	ATGCATGT others(40): Show ATGCATGTGGTGTGAGTGCATGTGGTGTGTGAATGCATGTGGTGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG03471.hp1 HG02630.hp2 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0043 a0001c0009t0001g0219 a0001c0009t0001g0043 a0001c0009t0001g0219	3	400	0.0075	-47	c.246 others(64): Show c.2464+455_2464+501delCTCACACCACATGCATTCACACACCACA TGCACTCACACCACATGCA		TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10						chr9	TogoVar
TTI1_chr20_37978021_38038456	38002614	AGCTGCGC others(40): Show AGCTGCGCACTGACCTTCAGGCGGATTTGCAGATTTTTATCTGACAAC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19059.hp2 NA19059.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0275 a0010c0016t0001g0275	1	396	0.0025	-47	c.261 others(59): Show c.2619_2652+13delGTTGTCAGATAAAAATCTGCAAATCCGCCTGAA GGTCAGTGCGCAGC	p.Leu others(5): Show p.Leu874fs	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	4/8		2619/3270	873/1089			chr20	TogoVar
TTLL2_chr6_167320086_167347688	167346662	TGCTCACT others(40): Show TGCTCACTATCATGAATCATCAGGGAAATGCAAATTAAAACCACTAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	424	0.0024	-47	c.49 others(58): Show c.4984_*5030delGCTCACTATCATGAATCATCAGGGAAATGCAAAT TAAAACCACTAGA		TTLL2	ENSG00000120440.15	transcript	ENST00000239587.10	protein_coding					3975		chr6	TogoVar
TUBB6_chr18_12303241_12331616	12304553	TGGGAGCC others(40): Show TGGGAGCCGCAGGTTCCCTTCCCCAGCGAGGCAGTGGGGAGCAGGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	402	0.0025	-47	c.-37 others(58): Show c.-3739_-3693delGGGAGCCGCAGGTTCCCTTCCCCAGCGAGGCAGT GGGGAGCAGGAAG		TUBB6	ENSG00000176014.13	transcript	ENST00000317702.10	protein_coding					3687		chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291475	CCGTGTCC others(40): Show CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0046 a0001c0002t0003g0046	1	284	0.0035	-47	c.121 others(65): Show c.1214+977_1214+1023delCGGTGCATGCTGCCCTCTCCCGTACAG GTAGGGCTCCCCGGGACACG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar

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Search Results (Total: 916 hits)