Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TERT_chr5_1248167_1300068	1273479	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	392	0.0026	32	c.228 others(51): Show c.2287-1200_2287-1199insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	ACCATCCA others(25): Show ACCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	392	0.0026	32	c.228 others(51): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273520	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02602.hp2 HG03710.hp1 others(2): Show HG02273.hp2 HG02602.hp2 HG03710.hp1 NA18975.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0282 a0001c0002t0001g0045 a0001c0003t0001g0262 others(2): Show a0001c0001t0001g0282 a0001c0002t0001g0045 a0001c0003t0001g0262 a0001c0003t0001g0271 a0001c0003t0001g0295	5	392	0.0128	32	c.228 others(51): Show c.2287-1241_2287-1240insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273570	G G	GACCGCCA others(25): Show GACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	392	0.0026	32	c.228 others(51): Show c.2287-1291_2287-1290insTGTGGGGGTCTGATGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273624	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18955.hp2 NA18948.hp1 NA18955.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0212 a0001c0006t0001g0217 a0001c0006t0001g0212 a0001c0006t0001g0217	2	392	0.0051	32	c.228 others(51): Show c.2287-1345_2287-1344insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273624	A A	ACATCAGA others(25): Show ACATCAGACCCTACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03831.hp2 NA18969.hp1 others(1): Show HG02040.hp1 HG03831.hp2 NA18969.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 a0001c0001t0001 a0001c0003t0001 a0001c0018t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0003t0001g0268 others(1): Show a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0003t0001g0268 a0001c0018t0001g0286	4	392	0.0102	32	c.228 others(51): Show c.2287-1345_2287-1344insGTGACTGTGGATGGCGGTCGTAGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273643	C C	CCGCCATC others(25): Show CCGCCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	392	0.0026	32	c.228 others(51): Show c.2287-1364_2287-1363insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(25): Show ACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	392	0.0026	32	c.228 others(51): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(25): Show CCGCCATCCACAGTCACCACACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	392	0.0026	32	c.228 others(51): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGTGGTGACTGTGG ATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TESC_chr12_117033923_117104416	117075887	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	312	0.0032	32	c.59- others(45): Show c.59-548_59-547insCACACACACACATATATATATATATATATATA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESC_chr12_117033923_117104416	117075909	A A	ATGTGTGT others(25): Show ATGTGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	312	0.0032	32	c.59- others(45): Show c.59-570_59-569insCATATATATATATATATATATATATACACACA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TESK2_chr1_45338883_45496163	45486818	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0283 a0001c0001t0009g0283	1	286	0.0035	32	c.-87 others(49): Show c.-87+4033_-87+4034insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	1/10			chr1	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG01123.hp1 others(15): Show HG00408.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01975.hp1 HG01978.hp1 HG02148.hp2 HG02523.hp2 HG02683.hp1 HG02818.hp1 NA18944.hp1 NA18961.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA19000.hp1 NA19001.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0003t0001 a0001c0003t0018 a0001c0003t0085 a0002c0002t0001 a0002c0002t0033 a0002c0002t0078 a0002c0002t0082	a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0193 others(14): Show a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0193 a0001c0001t0007g0178 a0001c0001t0008g0175 a0001c0001t0010g0200 a0001c0001t0012g0206 a0001c0001t0014g0294 a0001c0003t0001g0019 a0001c0003t0018g0126 a0001c0003t0085g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0033g0074 a0002c0002t0078g0111 a0002c0002t0082g0112	18	376	0.0479	32	c.207 others(49): Show c.207-1130_207-1129insTATATATATATATATATATATATATACA CACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TESPA1_chr12_54943015_54989762	54969021	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19005.hp1 HG01167.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0005 a0001c0003t0003 a0002c0002t0005	a0001c0003t0003g0138 a0002c0002t0005g0072 a0001c0003t0003g0138 a0002c0002t0005g0072	2	376	0.0053	32	c.207 others(49): Show c.207-1130_207-1129insTATATATATATATATATATATATACACA CACA	TESPA1	ENSG00000135426.16	transcript	ENST00000449076.6	protein_coding	3/10			chr12	TogoVar
TES_chr7_116205539_116263783	116229033	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01346.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0153 a0001c0002t0001g0206 a0001c0002t0001g0016 a0001c0002t0001g0153 a0001c0002t0001g0206	4	386	0.0104	32	c.28- others(47): Show c.28-5500_28-5499insTATATATATATATATATATATATATATATA AA	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TET1_chr10_68555337_68699487	68555522	T T	TTATCTAT others(25): Show TTATCTATCTATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0247 a0004c0003t0003g0247	1	282	0.0036	32	c.-53 others(43): Show c.-5343_-5342insTATCTATCTATCTATCTATCTATCTATCTATC	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding		4814		chr10	TogoVar
TET2_chr4_105141876_105284803	105224684	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0083 a0003c0004t0083	a0003c0004t0083g0047 a0003c0004t0083g0047	1	348	0.0029	32	c.-46 others(49): Show c.-46-9201_-46-9170dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TET2_chr4_105141876_105284803	105284079	T T	TACACGTG others(25): Show TACACGTGTATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0096 a0006c0006t0096	a0006c0006t0096g0044 a0006c0006t0096g0044	1	348	0.0029	32	c.75 others(43): Show c.7560_*7561insACACGTGTATATATATATATATATATATACAC	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding		4277		chr4	TogoVar
TEX11_chrX_70523940_70913711	70621549	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	229	0.0044	32	c.175 others(51): Show c.1751+2400_1751+2401insATATATATATATATATATATATATAT ATATAT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	20/29			chrX	TogoVar
TEX15_chr8_30826544_30918008	30889934	C C	CATATATA others(25): Show CATATATATATATATACATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0115 a0005c0005t0001g0115	1	294	0.0034	32	c.-9- others(47): Show c.-9-2624_-9-2623insATGTATATATATATATGTATATATATATAT AT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	2/10			chr8	TogoVar
TEX30_chr13_102760888_102778786	102775726	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	454	0.0022	32	c.-21 others(43): Show c.-2106_-2105insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TEX30	ENSG00000151287.17	transcript	ENST00000376032.9	protein_coding		1941		chr13	TogoVar
TEX33_chr22_36986125_37012851	36999569	G G	GGGAGGGG others(25): Show GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0077 a0003c0003t0001g0077	1	418	0.0024	32	c.634 others(47): Show c.634+270_634+271insTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGAGG others(25): Show AGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02922.hp2 HG03471.hp1 others(1): Show HG01071.hp1 HG02922.hp2 HG03471.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0074 a0003c0003t0001g0042 a0003c0003t0001g0124 a0001c0001t0001g0074 a0003c0003t0001g0042 a0003c0003t0001g0124	4	418	0.0096	32	c.634 others(47): Show c.634+268_634+269insCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGAGG others(25): Show AGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	418	0.0024	32	c.634 others(47): Show c.634+268_634+269insCCTCCCCTCCCCCCCTCCCCTCCCCCCTCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGAGG others(25): Show AGGGGAGGGGGGGAGGGGAGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18972.hp2 NA18988.hp2 others(1): Show HG01256.hp1 NA18972.hp2 NA18988.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0076 a0003c0003t0001g0152 a0003c0003t0001g0158 others(1): Show a0001c0001t0001g0076 a0003c0003t0001g0152 a0003c0003t0001g0158 a0003c0003t0001g0159	4	418	0.0096	32	c.634 others(47): Show c.634+268_634+269insCCTCCCCTCCCCCCTCCCCTCCCCCCCTCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGGAG others(25): Show AGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	418	0.0024	32	c.634 others(47): Show c.634+268_634+269insCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999580	G G	GGGAGGGG others(25): Show GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01346.hp1 others(5): Show HG00738.hp1 HG01168.hp2 HG01346.hp1 HG01358.hp1 HG02145.hp1 NA18949.hp1 NA19005.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0069 a0003c0003t0001g0048 a0001c0001t0001g0008 a0001c0001t0001g0069 a0003c0003t0001g0048	8	418	0.0191	32	c.634 others(47): Show c.634+259_634+260insTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX43_chr5_126626705_126641284	126633024	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp2 HG02145.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0002g0059 a0001c0002t0002g0068	2	424	0.0047	32	c.195 others(47): Show c.195+379_195+380insTATATATATATATATATATATAAATATATA TA	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TEX45_chr19_7492548_7513450	7495006	C C	CTCCCTCC others(25): Show CTCCCTCCTTCCCTCCTTCTCTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	436	0.0023	32	c.-26 others(43): Show c.-2694_-2693insTCCCTCCTTCCCTCCTTCTCTCCCTCCCTCCT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding		2541		chr19	TogoVar
TEX45_chr19_7492548_7513450	7499940	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0130 a0005c0006t0001g0130	1	436	0.0023	32	c.-17 others(47): Show c.-17-840_-17-839insTGTGTATGTGTGTGTGTGTGTGTGTGTGTG TG	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX49_chr12_48722435_48770790	48723769	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	322	0.0031	32	c.-37 others(43): Show c.-3712_-3711insTATATATATATATATATATATATATATATGTA	TEX49	ENSG00000257987.6	transcript	ENST00000548380.6	protein_coding		3665		chr12	TogoVar
TEX49_chr12_48722435_48770790	48723799	A A	ATATACGT others(25): Show ATATACGTATATATATATATATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	322	0.0031	32	c.-36 others(43): Show c.-3682_-3681insTATACGTATATATATATATATATATATATACG	TEX49	ENSG00000257987.6	transcript	ENST00000548380.6	protein_coding		3635		chr12	TogoVar
TFB1M_chr6_155251134_155319484	155305277	T T	TATATATT others(25): Show TATATATTAAATTATATATTTATATATATAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0255 a0001c0001t0018g0255	1	348	0.0029	32	c.285 others(49): Show c.285+5879_285+5910dupGTTTATATATATAAATATATAATTTAAT ATAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305322	A A	ATATATTT others(25): Show ATATATTTATATATATAAACATATATTAAATTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0050 a0001c0001t0030g0050	1	348	0.0029	32	c.285 others(49): Show c.285+5865_285+5866insCAATTTAATATATGTTTATATATATAAA TATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFDP1_chr13_113579753_113646473	113625588	G G	GGTGTCTC others(25): Show GGTGTCTCTCACGTGTCCTCAGGTGTCTCTCAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	348	0.0029	32	c.186 others(49): Show c.186+2318_186+2319insCTCAGGTGTCTCTCACGTGTCTCTCACG TGTC	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP2_chr3_141939428_142154544	141968542	T T	TATATATA others(25): Show TATATATATCTCATATATATAGATATATATAAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03704.hp1 NA18956.hp2 others(3): Show HG01261.hp1 HG03704.hp1 NA18956.hp2 NA19081.hp1 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0004g0043 a0001c0001t0004g0208 a0001c0001t0007g0044	6	252	0.0238	32	c.732 others(49): Show c.732+1499_732+1530dupGTTATATATATCTATATATATGAGATAT ATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968576	T T	TATATATC others(25): Show TATATATCTCATATATATAGATATATATAACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG02896.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0039 a0001c0002t0013 a0001c0002t0039	a0001c0002t0013g0009 a0001c0002t0039g0011 a0001c0002t0013g0009 a0001c0002t0039g0011	2	252	0.0079	32	c.732 others(49): Show c.732+1496_732+1497insGTGTTATATATATCTATATATATGAGAT ATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968602	A A	AACATATA others(25): Show AACATATATATCTCATATATAGATATATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0045 a0001c0001t0078g0045	1	252	0.0040	32	c.732 others(49): Show c.732+1439_732+1470dupGTTATATATATCTATATATGAGATATAT ATGT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968760	A A	AACATATA others(25): Show AACATATATATCTCATATATAGATATATATAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01928.hp2 HG02622.hp2 HG01081.hp2 HG01928.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0068 a0001c0001t0084 a0001c0001t0065 a0001c0001t0068 a0001c0001t0084	a0001c0001t0065g0073 a0001c0001t0068g0146 a0001c0001t0084g0222 a0001c0001t0065g0073 a0001c0001t0068g0146 a0001c0001t0084g0222	3	252	0.0119	32	c.732 others(49): Show c.732+1281_732+1312dupGTTATATATATCTATATATGAGATATAT ATGT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFE3_chrX_49023726_49048357	49024773	T T	TAACAGCC others(25): Show TAACAGCCAGCAAGGAACTGGGGCCCTCTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	260	0.0039	32	c.53 others(43): Show c.5384_*5385insGGACAGAGGGCCCCAGTTCCTTGCTGGCTGTT	TFE3	ENSG00000068323.17	transcript	ENST00000315869.8	protein_coding		3952		chrX	TogoVar
TFPI2_chr7_93880396_93895753	93888520	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18975.hp2 NA18981.hp2 others(1): Show HG02015.hp2 NA18975.hp2 NA18981.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0027 a0001c0002t0003g0059 a0001c0002t0003g0018 a0001c0002t0003g0027 a0001c0002t0003g0059	4	430	0.0093	32	c.460 others(47): Show c.460+514_460+515insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	430	0.0023	32	c.460 others(47): Show c.460+447_460+448insCTTTCTCTTTCCTTCCTTCCTTCCTTCCTT CC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888589	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0065 a0001c0002t0003g0065	1	430	0.0023	32	c.460 others(47): Show c.460+445_460+446insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFR2_chr7_100615420_100646552	100634177	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	336	0.0030	32	c.474 others(47): Show c.474-653_474-622dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	3/17			chr7	TogoVar
TGFA_chr2_70442284_70558826	70504449	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp2 NA18980.hp1 HG00323.hp2 HG01192.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0125 a0001c0002t0003g0129 a0001c0002t0003g0213 a0001c0001t0001g0125 a0001c0002t0003g0129 a0001c0002t0003g0213	3	344	0.0087	32	c.94+ others(49): Show c.94+10409_94+10410insGTATGTATATATATATATATATATATAT ATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504451	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0145 a0001c0002t0003g0145	1	344	0.0029	32	c.94+ others(49): Show c.94+10407_94+10408insGTATGTATATATATATATATATATATAT ATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504483	T T	TATATATA others(25): Show TATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	344	0.0029	32	c.94+ others(49): Show c.94+10375_94+10376insGTATGTATGTATATATATATATATATAT ATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFBR3_chr1_91675343_91891151	91734053	A A	AGAGGGAG others(25): Show AGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp2 NA18522.hp2 HG02486.hp2 HG02809.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0003g0163 a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0003g0163	3	284	0.0106	32	c.568 others(47): Show c.568+722_568+723insCCTCCCTCCCTCTCTCCCTCCCTCTCTCCC TC	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	5/16			chr1	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	360	0.0028	32	c.552 others(49): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGS1_chr8_55768446_55831445	55801582	C C	CCTTTTTT others(25): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0319 a0003c0003t0005g0319	1	370	0.0027	32	c.185 others(49): Show c.1850-875_1850-874insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12			chr8	TogoVar

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