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
TCF3_chr19_1604292_1657615	1654996	C C	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01074.hp2 HG01168.hp2	a0001 a0018 a0001 a0018	a0001c0003 a0018c0018 a0001c0003 a0018c0018	a0001c0003t0077 a0018c0018t0001 a0001c0003t0077 a0018c0018t0001	a0001c0003t0077g0241 a0018c0018t0001g0164 a0001c0003t0077g0241 a0018c0018t0001g0164	2	352	0.0057	36	c.-27 others(47): Show c.-2737_-2736insTAATAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding					2382		chr19	TogoVar
TCF4_chr18_55217185_55593192	55362373	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0029 a0001c0002t0040g0029	1	122	0.0082	36	c.370 others(55): Show c.370-11371_370-11370insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC		TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	6/19						chr18	TogoVar
TCF4_chr18_55217185_55593192	55426099	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	122	0.0082	36	c.305 others(55): Show c.305-22582_305-22581insTATATATATATATATATATATATATA TATATATATA		TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	5/19						chr18	TogoVar
TCF4_chr18_55217185_55593192	55586153	G G	GAGCAGCA others(29): Show GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	122	0.0082	36	c.73- others(49): Show c.73-837_73-802dupGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCT		TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	2/19						chr18	TogoVar
TCF7L1_chr2_85128392_85315387	85299860	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG03139.hp1 others(1): Show HG01109.hp1 HG02630.hp1 HG03139.hp1 NA18973.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0112 a0001c0001t0002g0175 a0002c0002t0001g0089 others(1): Show a0001c0001t0001g0112 a0001c0001t0002g0175 a0002c0002t0001g0089 a0003c0003t0002g0082	4	236	0.0170	36	c.526 others(53): Show c.526-2615_526-2580dupACACACACACACACACACACACACACAC ACACACAC		TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L1_chr2_85128392_85315387	85308382	A A	ACCTTCCC others(29): Show ACCTTCCCTCCCATTCTCCTTCCCTCCCTTTCCCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0059 a0002c0002t0008g0059	1	236	0.0042	36	c.133 others(53): Show c.1334-613_1334-612insCTCCTTCCCTCCCATTCTCCTTCCCTCC CTTTCCCC		TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112964742	G G	GTGGTGGT others(29): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	200	0.0050	36	c.450 others(51): Show c.450+133_450+168dupGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTG		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112964745	G G	GTGGTGGT others(29): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0022 a0002c0002t0018g0022	1	200	0.0050	36	c.450 others(51): Show c.450+135_450+136insGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTG		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112966177	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp1 HG02145.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0125 a0001c0001t0026g0124 a0001c0001t0001g0125 a0001c0001t0026g0124	2	200	0.0100	36	c.450 others(53): Show c.450+1559_450+1560insATATATATATATATATATATATATATAT ATATATAT		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112966184	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02280.hp2 others(4): Show HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0006 a0001c0001t0013 a0001c0001t0030 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0030 a0001c0005t0019 a0003c0003t0032	a0001c0001t0006g0005 a0001c0001t0006g0013 a0001c0001t0013g0103 others(4): Show a0001c0001t0006g0005 a0001c0001t0006g0013 a0001c0001t0013g0103 a0001c0001t0030g0004 a0001c0005t0019g0001 a0001c0005t0019g0002 a0003c0003t0032g0011	7	200	0.0350	36	c.450 others(53): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATATAT		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCHHL1_chr1_152079141_152094064	152082756	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01069.hp1 others(27): Show HG00544.hp1 HG00544.hp2 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG01975.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02738.hp2 HG02922.hp1 HG03195.hp2 HG03831.hp2 NA18944.hp1 NA18985.hp2 NA18999.hp2 NA19000.hp1 NA19056.hp2 NA19060.hp1 NA19070.hp2 NA19079.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0014c0014	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0014c0014t0001	a0001c0001t0001g0001 a0001c0001t0004g0012 a0002c0002t0001g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0012 a0002c0002t0001g0002 a0003c0003t0001g0004 a0014c0014t0001g0020	30	376	0.0798	36	c.22 others(47): Show c.2210_*2211insATATATATATATATATATATATATATATATATAT AT		TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding					1384		chr1	TogoVar
TCHH_chr1_152101317_152120444	152111699	T T	TTGCTGCT others(29): Show TTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02135.hp2 HG02602.hp1 HG03927.hp1 others(2): Show HG02135.hp2 HG02602.hp1 HG03927.hp1 HG04199.hp1 NA19079.hp2	a0093 a0096 a0100 others(2): Show a0093 a0096 a0100 a0103 a0104	a0093c0128 a0096c0125 a0100c0121 others(2): Show a0093c0128 a0096c0125 a0100c0121 a0103c0115 a0104c0114	a0093c0128t0001 a0096c0125t0001 a0100c0121t0001 others(2): Show a0093c0128t0001 a0096c0125t0001 a0100c0121t0001 a0103c0115t0001 a0104c0114t0001	a0093c0128t0001g0142 a0096c0125t0001g0139 a0100c0121t0001g0135 others(2): Show a0093c0128t0001g0142 a0096c0125t0001g0139 a0100c0121t0001g0135 a0103c0115t0001g0129 a0104c0114t0001g0128	5	402	0.0124	36	c.148 others(45): Show c.1482_1517dupGGAGAGGCGCGAGCAGCAGGAGAGGCGCGAGCAGCA	p.Gln others(49): Show p.Gln506_Leu507insGluArgArgGluGlnGlnGluArgArgGluGl nGln	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1602/6985	1517/5832	506/1943			chr1	TogoVar
TCHH_chr1_152101317_152120444	152111926	C C	CCTGCTGC others(29): Show CCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0113 a0113	a0113c0104 a0113c0104	a0113c0104t0001 a0113c0104t0001	a0113c0104t0001g0084 a0113c0104t0001g0084	1	402	0.0025	36	c.129 others(45): Show c.1290_1291insCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAG	p.Glu others(49): Show p.Glu430_Glu431insLeuArgArgGluGlnGlnLeuArgArgGluGl nGln	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1375/6985	1290/5832	430/1943			chr1	TogoVar
TCHH_chr1_152101317_152120444	152111929	C C	CCTGCTCG others(29): Show CCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp1 HG01069.hp2 others(23): Show HG00140.hp1 HG00323.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG02056.hp1 HG02135.hp1 HG02523.hp2 HG02717.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18612.hp1 NA18961.hp2 NA18967.hp2 NA18986.hp1 NA18999.hp2 NA19056.hp1 NA19068.hp2 NA19075.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp2	a0013 a0023 a0028 others(6): Show a0013 a0023 a0028 a0033 a0057 a0073 a0110 a0111 a0112	a0013c0013 a0013c0106 a0023c0022 others(7): Show a0013c0013 a0013c0106 a0023c0022 a0028c0031 a0033c0035 a0057c0047 a0073c0070 a0110c0107 a0111c0108 a0112c0105	a0013c0013t0002 a0013c0106t0002 a0023c0022t0001 others(7): Show a0013c0013t0002 a0013c0106t0002 a0023c0022t0001 a0028c0031t0002 a0033c0035t0001 a0057c0047t0002 a0073c0070t0002 a0110c0107t0001 a0111c0108t0001 a0112c0105t0002	a0013c0013t0002g0012 a0013c0106t0002g0120 a0023c0022t0001g0019 others(8): Show a0013c0013t0002g0012 a0013c0106t0002g0120 a0023c0022t0001g0019 a0028c0031t0002g0030 a0033c0035t0001g0032 a0057c0047t0002g0078 a0057c0047t0002g0119 a0073c0070t0002g0091 a0110c0107t0001g0121 a0111c0108t0001g0122 a0112c0105t0002g0118	26	402	0.0647	36	c.125 others(45): Show c.1252_1287dupCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAG	p.Gln others(49): Show p.Gln429_Glu430insGlnLeuArgArgGluGlnGlnLeuArgArgGl uGln	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1372/6985	1287/5832	429/1943			chr1	TogoVar
TCL1B_chr14_95681426_95697628	95686328	T T	TGGCCCCG others(29): Show TGGCCCCGCCCCCACTGCCGGCCCCGCCCCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	446	0.0045	36	c.-14 others(45): Show c.-140_-139insGGCCCCGCCCCCACTGCCGGCCCCGCCCCCACTGCC		TCL1B	ENSG00000213231.13	transcript	ENST00000340722.8	protein_coding					97		chr14	TogoVar
TCTN3_chr10_95658401_95698927	95662003	C C	CTAGGCCA others(29): Show CTAGGCCACACTGATTGTTTGCTTTTCTGAACAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(40): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02738.hp1 HG02976.hp1 HG03453.hp2 HG03486.hp2 HG04115.hp2 NA18522.hp2 NA18951.hp2 NA19003.hp1 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0078 others(38): Show a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0007t0002g0038 a0001c0007t0002g0039	43	400	0.1075	36	c.20 others(47): Show c.2028_*2063dupCATTTGTTCAGAAAAGCAAACAATCAGTGTGGCC TA		TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding					1397		chr10	TogoVar
TCTN3_chr10_95658401_95698927	95672160	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(16): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02738.hp1 HG03098.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG04115.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0130 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0003g0122 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114	19	400	0.0475	36	c.159 others(55): Show c.1591-7861_1591-7860insCACACACACACACACACACACACACA CACACACACA		TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13						chr10	TogoVar
TDRD12_chr19_32714767_32834580	32805190	T T	TATATATA others(29): Show TATATATATGTTATATATTATATATATAACATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	380	0.0026	36	c.255 others(55): Show c.2552+2056_2552+2057insGTTATATATTATATATATAACATATA TAATATATAT		TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	21/32					INFO_REALIGN_3_PRIME	chr19	TogoVar
TDRD9_chr14_103923456_104057667	103968804	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	372	0.0027	36	c.766 others(53): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAG		TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35						chr14	TogoVar
TDRKH_chr1_151768494_151795500	151781324	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19058.hp1 NA19011.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0154 a0001c0001t0002g0126 a0001c0001t0002g0154	2	418	0.0048	36	c.231 others(51): Show c.231+156_231+157insATATATATATATATATATATATATATATAT ATATAT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781326	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18522.hp1 HG04228.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0155 a0001c0001t0002g0128 a0001c0001t0002g0155	2	418	0.0048	36	c.231 others(51): Show c.231+154_231+155insATATATATATATATATATATATATATATAT ATATAT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	418	0.0024	36	c.231 others(51): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATTTTT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03669.hp1 HG03688.hp2 others(1): Show HG02602.hp2 HG03669.hp1 HG03688.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0136 a0001c0001t0002g0162 a0001c0001t0002g0042 a0001c0001t0002g0136 a0001c0001t0002g0162	4	418	0.0096	36	c.231 others(51): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATATTT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	206	0.0049	36	c.203 others(55): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12					WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD4_chr12_2954397_3045676	3041663	T T	TCCTCCCT others(29): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	276	0.0036	36	c.11 others(47): Show c.1185_*1186insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TC		TEAD4	ENSG00000197905.10	transcript	ENST00000359864.8	protein_coding					988		chr12	TogoVar
TEC_chr4_48130783_48274838	48160859	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG02145.hp1 others(10): Show HG00099.hp1 HG00323.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02818.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0006 a0001c0007t0001 a0001c0001t0001 a0001c0002t0006 a0001c0007t0001	a0001c0001t0001g0197 a0001c0002t0006g0011 a0001c0002t0006g0071 others(10): Show a0001c0001t0001g0197 a0001c0002t0006g0011 a0001c0002t0006g0071 a0001c0002t0006g0073 a0001c0002t0006g0074 a0001c0002t0006g0307 a0001c0002t0006g0308 a0001c0002t0006g0317 a0001c0002t0006g0318 a0001c0002t0006g0319 a0001c0002t0006g0327 a0001c0002t0006g0332 a0001c0007t0001g0296	13	346	0.0376	36	c.737 others(53): Show c.737+2842_737+2843insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT		TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	8/17						chr4	TogoVar
TEKT1_chr17_6792993_6836729	6793085	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0095 a0001c0001t0012g0095	1	406	0.0025	36	c.69 others(47): Show c.6941_*6942insCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4907		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793085	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02155.hp1 NA18959.hp1 others(1): Show HG00639.hp2 HG02155.hp1 NA18959.hp1 NA19056.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0002 a0004c0005t0006 a0001c0002t0002 a0004c0005t0006	a0001c0002t0002g0213 a0004c0005t0006g0022 a0004c0005t0006g0071 others(1): Show a0001c0002t0002g0213 a0004c0005t0006g0022 a0004c0005t0006g0071 a0004c0005t0006g0074	4	406	0.0099	36	c.69 others(47): Show c.6941_*6942insCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4907		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0082 a0004c0005t0006g0082	1	406	0.0025	36	c.69 others(47): Show c.6939_*6940insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4905		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0307 a0003c0004t0001g0307	1	406	0.0025	36	c.69 others(47): Show c.6939_*6940insTTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCT TT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4905		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793119	A A	AAGAAAGA others(29): Show AAGAAAGAGAAAGAAAGAGAGAGAGAAAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0013 a0001c0012t0013	a0001c0012t0013g0021 a0001c0012t0013g0021	1	406	0.0025	36	c.69 others(47): Show c.6907_*6908insCTCTCTCTCTTTCTCTCTCTCTTTCTTTCTCTTT CT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4873		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793123	A A	AAGAAAGA others(29): Show AAGAAAGAGAAAGAAAGAGAGAGAGAAAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0320 a0001c0002t0002g0320	1	406	0.0025	36	c.69 others(47): Show c.6903_*6904insCTCTCTCTCTTTCTCTCTCTCTTTCTTTCTCTTT CT		TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding					4869		chr17	TogoVar
TEKT5_chr16_10622501_10699930	10624118	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02040.hp2 HG02080.hp1 others(2): Show HG00558.hp2 HG02040.hp2 HG02080.hp1 NA18973.hp2 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0040 a0001c0001t0001g0128 a0002c0002t0001g0271 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0128 a0002c0002t0001g0271 a0003c0004t0001g0333 a0003c0004t0001g0346	5	388	0.0129	36	c.34 others(47): Show c.3464_*3465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT		TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding					3382		chr16	TogoVar
TEKT5_chr16_10622501_10699930	10640074	C C	CTTCTTCT others(29): Show CTTCTTCTCCTTCCTTCCTTTCTTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 NA18970.hp2 HG00423.hp1 HG00597.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0041 a0001c0003t0001g0172 a0002c0002t0001g0371 a0001c0001t0001g0041 a0001c0003t0001g0172 a0002c0002t0001g0371	3	388	0.0077	36	c.108 others(55): Show c.1087-4157_1087-4156insAGGAAGGAAGGAGAAGAAAGGAAGGA AGGAGAAGAA		TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding	5/6						chr16	TogoVar
TENM1_chrX_124370903_125209312	124375202	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0073 a0001c0005t0006g0073	1	140	0.0071	36	c.53 others(47): Show c.5333_*5334insGTGTATATATATATATATATATATATATATATAT AT		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding					700		chrX	TogoVar
TENM1_chrX_124370903_125209312	124974888	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp1 HG00673.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0005t0002 a0001c0002t0004 a0001c0005t0002	a0001c0002t0004g0049 a0001c0005t0002g0035 a0001c0002t0004g0049 a0001c0005t0002g0035	2	140	0.0143	36	c.-64 others(55): Show c.-64-11072_-64-11071insTATATATATATATATATATATATATA TATATATATA		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34						chrX	TogoVar
TENM2_chr5_166974029_168269157	167470454	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0008 a0001c0026t0008	a0001c0026t0008g0005 a0001c0026t0008g0005	1	54	0.0185	36	c.502 others(55): Show c.502+95003_502+95004insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182432846	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03579.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0018 a0001c0042 a0001c0007 a0001c0018 a0001c0042	a0001c0007t0001 a0001c0018t0004 a0001c0042t0002 a0001c0007t0001 a0001c0018t0004 a0001c0042t0002	a0001c0007t0001g0119 a0001c0018t0004g0099 a0001c0042t0002g0100 a0001c0007t0001g0119 a0001c0018t0004g0099 a0001c0042t0002g0100	3	140	0.0214	36	c.511 others(55): Show c.511+85919_511+85920insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182600870	T T	TATATATA others(29): Show TATATATATATATATATATATGCATATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18971.hp1 HG06807.hp1 NA18971.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0018 a0001c0015t0001g0076 a0001c0015t0001g0018 a0001c0015t0001g0076	2	140	0.0143	36	c.512 others(49): Show c.512-41_512-40insTATATATGCATATATATATATACATATATATA TATA		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM3_chr4_182238402_182808024	182775969	G G	GATAGATA others(29): Show GATAGATAGATTATATATATATAGATAGATAGGAGAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0006 a0001c0038t0006	a0001c0038t0006g0070 a0001c0038t0006g0070	1	140	0.0071	36	c.530 others(53): Show c.5304+820_5304+855dupGATAGATTATATATATATAGATAGATAG GAGATATA		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	79135699	G G	GATACATC others(29): Show GATACATCATACATATATGATCATACATATATGATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02647.hp1 others(8): Show HG01884.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 NA18522.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0010 a0011	a0001c0001 a0001c0004 a0001c0007 others(7): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0037 a0001c0041 a0003c0010 a0004c0026 a0010c0029 a0011c0033	a0001c0001t0059 a0001c0004t0028 a0001c0004t0063 others(8): Show a0001c0001t0059 a0001c0004t0028 a0001c0004t0063 a0001c0007t0050 a0001c0008t0052 a0001c0037t0039 a0001c0041t0038 a0003c0010t0011 a0004c0026t0053 a0010c0029t0011 a0011c0033t0037	a0001c0001t0059g0085 a0001c0004t0028g0010 a0001c0004t0063g0091 others(8): Show a0001c0001t0059g0085 a0001c0004t0028g0010 a0001c0004t0063g0091 a0001c0007t0050g0051 a0001c0008t0052g0069 a0001c0037t0039g0019 a0001c0041t0038g0028 a0003c0010t0011g0017 a0004c0026t0053g0050 a0010c0029t0011g0040 a0011c0033t0037g0039	11	94	0.1170	36	c.-66 others(55): Show c.-66+12975_-66+13010dupATATCATATATGTATGATCATATATG TATGATGTAT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENM4_chr11_78647829_79446030	79139026	A A	ATAAAATA others(29): Show ATAAAATATATATTATATTTCTATAAATATATAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	94	0.0106	36	c.-66 others(53): Show c.-66+9683_-66+9684insATTTTATATATTTATAGAAATATAATAT ATATTTTA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TENT4B_chr16_50148306_50240310	50182891	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	312	0.0032	36	c.639 others(55): Show c.639-28401_639-28400insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		TENT4B	ENSG00000121274.14	transcript	ENST00000561678.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
TEP1_chr14_20360667_20418501	20387551	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0095 a0095	a0095c0150 a0095c0150	a0095c0150t0001 a0095c0150t0001	a0095c0150t0001g0371 a0095c0150t0001g0371	1	400	0.0025	36	c.268 others(53): Show c.2684+353_2684+354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		TEP1	ENSG00000129566.13	transcript	ENST00000262715.10	protein_coding	18/54						chr14	TogoVar
TERF1_chr8_73003864_73053123	73037661	A A	AATAATAT others(29): Show AATAATATTATATTATATATAATATATATTATATAGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	342	0.0029	36	c.104 others(55): Show c.1040-1416_1040-1381dupAATATTATATTATATATAATATATAT TATATAGTAT		TERF1	ENSG00000147601.15	transcript	ENST00000276603.10	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr8	TogoVar
TERT_chr5_1248167_1300068	1272539	C C	CCACATCA others(29): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp1 NA18906.hp1 HG03471.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0019t0001 a0001c0001t0001 a0001c0001t0002 a0001c0019t0001	a0001c0001t0001g0311 a0001c0001t0002g0253 a0001c0019t0001g0149 a0001c0001t0001g0311 a0001c0001t0002g0253 a0001c0019t0001g0149	3	392	0.0077	36	c.228 others(53): Show c.2287-295_2287-260dupTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272607	C C	CCACATCA others(29): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01169.hp1 NA18943.hp2 others(14): Show HG00609.hp2 HG01169.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp1 NA18975.hp2 NA18979.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0006t0001	a0001c0001t0001g0170 a0001c0001t0001g0240 a0001c0001t0001g0241 others(13): Show a0001c0001t0001g0170 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0270 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0003t0001g0006 a0001c0003t0001g0283 a0001c0003t0001g0315 a0001c0003t0005g0314 a0001c0006t0001g0219	17	392	0.0434	36	c.228 others(53): Show c.2287-363_2287-328dupTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272699	G G	GCCATCCA others(29): Show GCCATCCACAGTCACCACACATCAGACCCCACGACCA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	392	0.0026	36	c.228 others(53): Show c.2287-420_2287-419insTGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272801	G G	GACCGCCA others(29): Show GACCGCCATCCACAGTCACCACACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	392	0.0026	36	c.228 others(53): Show c.2287-522_2287-521insTGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272957	C C	CCACAGTC others(29): Show CCACAGTCACCACATCAGACCCCACGACCACCATCCA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	392	0.0026	36	c.228 others(53): Show c.2287-678_2287-677insTGGATGGTGGTCGTGGGGTCTGATGTGG TGACTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar

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Search Results (Total: 8848 hits)