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 per page.

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
TRPV1_chr17_3560446_3614411	3569963	G G	GGGTCAGG others(37): Show GGGTCAGGGAGGAGGGGCCAAGGGGTCAGGGAGGAGGGGCCAAGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(100): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01261.hp1 HG01928.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0016 a0018 a0020	a0001c0001 a0002c0002 a0002c0013 others(16): Show a0001c0001 a0002c0002 a0002c0013 a0002c0023 a0002c0037 a0002c0038 a0002c0046 a0003c0003 a0005c0011 a0006c0007 a0007c0006 a0008c0005 a0009c0009 a0009c0032 a0012c0020 a0013c0021 a0016c0035 a0018c0033 a0020c0025	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(32): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0018 a0002c0002t0032 a0002c0002t0052 a0002c0002t0055 a0002c0013t0001 a0002c0023t0002 a0002c0037t0001 a0002c0038t0001 a0002c0046t0001 a0003c0003t0001 a0003c0003t0009 a0003c0003t0022 a0005c0011t0011 a0006c0007t0001 a0006c0007t0006 a0007c0006t0041 a0008c0005t0001 a0008c0005t0002 a0008c0005t0004 a0008c0005t0006 a0008c0005t0049 a0009c0009t0001 a0009c0009t0009 a0009c0032t0001 a0012c0020t0006 a0013c0021t0018 a0016c0035t0001 a0018c0033t0006 a0020c0025t0035	a0001c0001t0001g0115 a0002c0002t0001g0018 a0002c0002t0001g0022 others(100): Show a0001c0001t0001g0115 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0040 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0119 a0002c0002t0001g0169 a0002c0002t0001g0175 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0002g0093 a0002c0002t0005g0174 a0002c0002t0006g0223 a0002c0002t0006g0246 a0002c0002t0006g0247 a0002c0002t0006g0248 a0002c0002t0006g0249 a0002c0002t0006g0250 a0002c0002t0006g0296 a0002c0002t0009g0342 a0002c0002t0009g0352 a0002c0002t0009g0354 a0002c0002t0018g0202 a0002c0002t0032g0008 a0002c0002t0052g0363 a0002c0002t0055g0389 a0002c0013t0001g0053 a0002c0013t0001g0058 a0002c0013t0001g0111 a0002c0023t0002g0060 a0002c0037t0001g0027 a0002c0038t0001g0062 a0002c0046t0001g0088 a0003c0003t0001g0044 a0003c0003t0001g0120 a0003c0003t0001g0160 a0003c0003t0001g0187 a0003c0003t0009g0312 a0003c0003t0009g0326 a0003c0003t0022g0379 a0003c0003t0022g0381 a0003c0003t0022g0382 a0005c0011t0011g0193 a0006c0007t0001g0014 a0006c0007t0001g0100 a0006c0007t0006g0298 a0007c0006t0041g0280 a0008c0005t0001g0033 a0008c0005t0002g0032 a0008c0005t0002g0036 a0008c0005t0002g0037 a0008c0005t0002g0038 a0008c0005t0002g0039 a0008c0005t0004g0303 a0008c0005t0006g0213 a0008c0005t0006g0214 a0008c0005t0006g0259 a0008c0005t0049g0357 a0009c0009t0001g0067 a0009c0009t0009g0344 a0009c0009t0009g0348 a0009c0009t0009g0349 a0009c0009t0009g0355 a0009c0032t0001g0156 a0012c0020t0006g0215 a0013c0021t0018g0203 a0016c0035t0001g0084 a0018c0033t0006g0281 a0020c0025t0035g0059	103	392	0.2628	44	c.234 others(63): Show c.2347+1560_2347+1561insACTTGGCCCCTCCTCCCTGACCCCTT GGCCCCTCCTCCCTGACC	TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding	16/16			chr17	TogoVar
TSG101_chr11_18475311_18531942	18496453	A A	AAAATAAA others(37): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01928.hp2 HG01952.hp2 others(9): Show HG00642.hp2 HG01928.hp2 HG01952.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG03942.hp2 NA18948.hp1 NA18971.hp2 NA18972.hp1 NA19056.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0001c0001t0001 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0151 a0001c0001t0001g0224 a0001c0002t0001g0092 others(9): Show a0001c0001t0001g0151 a0001c0001t0001g0224 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0121 a0001c0002t0001g0137 a0001c0002t0001g0149 a0001c0002t0001g0166 a0003c0006t0001g0174	12	406	0.0296	44	c.640 others(61): Show c.640+5989_640+6032dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTT	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18496458	A A	AAAATAAA others(37): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 NA18612.hp2 others(6): Show HG01106.hp1 HG01516.hp1 NA18612.hp2 NA18943.hp2 NA18945.hp2 NA18956.hp2 NA18984.hp2 NA18987.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0002g0221 others(6): Show a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0002g0221 a0001c0002t0001g0016 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0160 a0001c0002t0001g0232	9	406	0.0222	44	c.640 others(61): Show c.640+5984_640+6027dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTT	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	406	0.0025	44	c.640 others(61): Show c.640+3083_640+3084insAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3268853	C C	CGTTCCTG others(37): Show CGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(91): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA19004.hp2 NA19005.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0088 a0001c0001t0089 a0001c0001t0093 a0001c0002t0030 a0001c0002t0031 a0001c0007t0001 a0001c0008t0007	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(91): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0004g0164 a0001c0001t0004g0210 a0001c0001t0004g0283 a0001c0001t0005g0016 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0029 a0001c0001t0005g0043 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0069 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0127 a0001c0001t0007g0162 a0001c0001t0007g0183 a0001c0001t0007g0196 a0001c0001t0007g0201 a0001c0001t0007g0251 a0001c0001t0007g0263 a0001c0001t0008g0085 a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0001t0008g0123 a0001c0001t0008g0128 a0001c0001t0009g0004 a0001c0001t0009g0027 a0001c0001t0009g0030 a0001c0001t0011g0216 a0001c0001t0020g0187 a0001c0001t0020g0222 a0001c0001t0020g0229 a0001c0001t0021g0168 a0001c0001t0021g0254 a0001c0001t0025g0076 a0001c0001t0026g0028 a0001c0001t0034g0249 a0001c0001t0034g0250 a0001c0001t0035g0140 a0001c0001t0035g0268 a0001c0001t0040g0272 a0001c0001t0042g0124 a0001c0001t0046g0033 a0001c0001t0073g0007 a0001c0001t0074g0002 a0001c0001t0075g0173 a0001c0001t0076g0220 a0001c0001t0081g0197 a0001c0001t0082g0232 a0001c0001t0083g0228 a0001c0001t0084g0147 a0001c0001t0085g0253 a0001c0001t0088g0136 a0001c0001t0089g0186 a0001c0001t0093g0270 a0001c0002t0030g0072 a0001c0002t0030g0114 a0001c0002t0031g0022 a0001c0007t0001g0224 a0001c0008t0007g0192	94	288	0.3264	44	c.64- others(59): Show c.64-9568_64-9567insGTTCCTGCAGCCTGCCCTCTCTGTGTTCCT GCAGCCTGCCCTGT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8			chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44689708	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	294	0.0034	44	c.82+ others(61): Show c.82+21724_82+21725insATATATATATATATATATATATATATAT ATATATATATATATAT	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TSR1_chr17_2317396_2341457	2338774	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG04184.hp1 NA18953.hp2 others(6): Show HG03927.hp2 HG04184.hp1 NA18953.hp2 NA18956.hp1 NA18980.hp2 NA18988.hp1 NA19012.hp1 NA19070.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0023 a0001c0001 a0002c0002 a0002c0023	a0001c0001t0002 a0002c0002t0001 a0002c0023t0001 a0001c0001t0002 a0002c0002t0001 a0002c0023t0001	a0001c0001t0002g0024 a0002c0002t0001g0001 a0002c0002t0001g0008 others(4): Show a0001c0001t0002g0024 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0192 a0002c0002t0001g0200 a0002c0023t0001g0196	9	408	0.0221	44	c.-23 others(55): Show c.-2348_-2347insATATATATATATATATATATATATATATATATAT ATATATATAT	TSR1	ENSG00000167721.11	transcript	ENST00000301364.10	protein_coding		2318		chr17	TogoVar
TSR1_chr17_2317396_2341457	2338788	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	408	0.0025	44	c.-23 others(55): Show c.-2362_-2361insTTATATATATATATATATATATATATATATATAT ATATATATAT	TSR1	ENSG00000167721.11	transcript	ENST00000301364.10	protein_coding		2332		chr17	TogoVar
TSTD3_chr6_99516049_99538185	99520976	G G	GAGGGCGC others(37): Show GAGGGCGCCGGAGAGCCTGGAGCAGGGCGCCGGAGAGCCTGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18977.hp1 NA18979.hp1 others(1): Show HG02132.hp1 NA18977.hp1 NA18979.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0073 a0001c0001t0003g0013 a0001c0001t0003g0073	4	436	0.0092	44	c.-18 others(53): Show c.-187_-186insAGGGCGCCGGAGAGCCTGGAGCAGGGCGCCGGAGAG CCTGGAGC	TSTD3	ENSG00000279170.3	transcript	ENST00000452647.3	protein_coding		72		chr6	TogoVar
TTBK2_chr15_42733730_42925778	42763106	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0100 a0003c0003t0004g0100	1	248	0.0040	44	c.199 others(63): Show c.1999-9860_1999-9859insCGTATATATATATATATACATATATA TATATATATATATATATA	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14			chr15	TogoVar
TTC21B_chr2_165868362_165958776	165947169	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02572.hp2 HG02622.hp2 others(6): Show HG00558.hp2 HG02572.hp2 HG02622.hp2 HG02970.hp2 NA18964.hp2 NA18994.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0001t0001 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0004t0003g0093 a0001c0004t0003g0094	9	408	0.0221	44	c.263 others(61): Show c.263-1480_263-1479insATATATATATATATATATATATATATAT ATATATATATATATAT	TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	3/28			chr2	TogoVar
TTC27_chr2_32623050_32826051	32668540	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	324	0.0031	44	c.939 others(61): Show c.939+1795_939+1796insCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0028 a0003c0004t0001g0028	1	324	0.0031	44	c.939 others(61): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG02132.hp1 others(2): Show HG00280.hp1 HG00408.hp2 HG02132.hp1 NA18906.hp2 NA18982.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0094 a0001c0001t0001g0166 a0001c0002t0001g0300 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0166 a0001c0002t0001g0300 a0002c0003t0002g0272 a0003c0004t0001g0183	5	324	0.0154	44	c.939 others(61): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18948.hp2 NA19064.hp2 HG03831.hp2 NA18948.hp2 NA19064.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0014 a0002c0003 a0009c0014	a0002c0003t0002 a0009c0014t0001 a0002c0003t0002 a0009c0014t0001	a0002c0003t0002g0135 a0002c0003t0002g0136 a0009c0014t0001g0149 a0002c0003t0002g0135 a0002c0003t0002g0136 a0009c0014t0001g0149	3	324	0.0093	44	c.939 others(61): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	324	0.0031	44	c.939 others(61): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	324	0.0031	44	c.123 others(65): Show c.1234-10097_1234-10096insCTCCCTCCCTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCC	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32723728	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	324	0.0031	44	c.123 others(65): Show c.1234-10097_1234-10096insCTCCCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCC	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC28_chr22_27973014_28684840	28371590	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG04184.hp1 others(1): Show HG01175.hp2 HG01433.hp2 HG04184.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0002t0029 a0001c0001t0003 a0001c0001t0012 a0001c0002t0029	a0001c0001t0003g0092 a0001c0001t0012g0075 a0001c0001t0012g0077 others(1): Show a0001c0001t0003g0092 a0001c0001t0012g0075 a0001c0001t0012g0077 a0001c0002t0029g0072	4	196	0.0204	44	c.382 others(63): Show c.382-64948_382-64947insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28537306	A A	ATTAAATA others(37): Show ATTAAATAACATAACATAACATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	196	0.0051	44	c.381 others(63): Show c.381+92245_381+92246insGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATTTAA	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28670704	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0169 a0001c0015t0002g0169	1	196	0.0051	44	c.102 others(61): Show c.102+8917_102+8918insATATATATATATATATATATATATATAT ATATATATATATATAT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	1/22			chr22	TogoVar
TTC29_chr4_146701617_146950864	146917608	T T	TTATATAA others(37): Show TTATATAATATCTAATTAGATATTATATACATTATATATTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(70): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03492.hp1 HG03516.hp2 HG03710.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA20129.hp2 NA20752.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0014 a0003c0003 others(2): Show a0001c0001 a0001c0014 a0003c0003 a0003c0008 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0003c0003t0001 a0003c0008t0001 a0003c0008t0002 a0008c0009t0001	a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 others(70): Show a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0292 a0001c0001t0002g0149 a0001c0014t0001g0128 a0003c0003t0001g0165 a0003c0008t0001g0144 a0003c0008t0002g0124 a0008c0009t0001g0158 a0008c0009t0001g0170	73	292	0.2500	44	c.177 others(61): Show c.177-8360_177-8359insTAAATAATATATAATGTATATAATATCT AATTAGATATTATATA	TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	4/12			chr4	TogoVar
TTC5_chr14_20281227_20310951	20300143	G G	GTATGTGT others(37): Show GTATGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0082 a0001c0002t0017g0082	1	416	0.0024	44	c.396 others(59): Show c.396+463_396+464insTATATATATATATATATATATATATATATA TATACACACACATA	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9			chr14	TogoVar
TTC6_chr14_37590629_37847717	37721848	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0160 a0018c0025t0001g0160	1	220	0.0046	44	c.171 others(63): Show c.1714-3021_1714-3020insATATATATATATATGTATATATATAT ATATATATATATATATAT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC7B_chr14_90519564_90821430	90694678	T T	TTTTTATT others(37): Show TTTTTATTTTATTATAAAATATATTTTATTTTATTATAAAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00639.hp1 others(43): Show HG00099.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp2 HG01496.hp1 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02165.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18998.hp2 NA19012.hp1 NA19066.hp2 NA19080.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0016 a0003c0017	a0001c0001t0077 a0001c0003t0001 a0001c0003t0004 others(40): Show a0001c0001t0077 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0014 a0001c0003t0022 a0001c0003t0024 a0001c0003t0025 a0001c0003t0026 a0001c0003t0029 a0001c0003t0039 a0001c0003t0040 a0001c0003t0047 a0001c0003t0052 a0001c0003t0060 a0001c0003t0067 a0001c0003t0086 a0001c0003t0095 a0001c0003t0103 a0001c0003t0110 a0001c0004t0003 a0001c0004t0007 a0001c0004t0008 a0001c0004t0009 a0001c0004t0010 a0001c0004t0012 a0001c0004t0014 a0001c0004t0065 a0001c0004t0075 a0001c0004t0108 a0001c0004t0113 a0001c0007t0004 a0001c0007t0016 a0001c0007t0023 a0001c0007t0093 a0001c0008t0013 a0001c0008t0084 a0001c0008t0105 a0001c0010t0009 a0001c0010t0087 a0001c0016t0010 a0003c0017t0001	a0001c0001t0077g0123 a0001c0003t0001g0032 a0001c0003t0001g0070 others(43): Show a0001c0001t0077g0123 a0001c0003t0001g0032 a0001c0003t0001g0070 a0001c0003t0004g0062 a0001c0003t0011g0053 a0001c0003t0013g0034 a0001c0003t0014g0169 a0001c0003t0014g0189 a0001c0003t0022g0083 a0001c0003t0024g0050 a0001c0003t0025g0067 a0001c0003t0026g0170 a0001c0003t0026g0173 a0001c0003t0029g0195 a0001c0003t0039g0159 a0001c0003t0040g0013 a0001c0003t0047g0114 a0001c0003t0052g0148 a0001c0003t0060g0199 a0001c0003t0067g0020 a0001c0003t0086g0174 a0001c0003t0095g0022 a0001c0003t0103g0092 a0001c0003t0110g0107 a0001c0004t0003g0102 a0001c0004t0007g0152 a0001c0004t0008g0190 a0001c0004t0009g0084 a0001c0004t0010g0157 a0001c0004t0012g0127 a0001c0004t0014g0131 a0001c0004t0065g0069 a0001c0004t0075g0113 a0001c0004t0108g0150 a0001c0004t0113g0154 a0001c0007t0004g0138 a0001c0007t0016g0197 a0001c0007t0023g0128 a0001c0007t0093g0139 a0001c0008t0013g0161 a0001c0008t0084g0110 a0001c0008t0105g0014 a0001c0010t0009g0037 a0001c0010t0087g0039 a0001c0016t0010g0040 a0003c0017t0001g0075	46	200	0.2300	44	c.777 others(59): Show c.777+821_777+822insTATATTTTATAATAAAATAAAATATATTTT ATAATAAAATAAAA	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19			chr14	TogoVar
TTC7B_chr14_90519564_90821430	90780470	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG04184.hp1 HG06807.hp2 others(1): Show HG02056.hp2 HG04184.hp1 HG06807.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0002 a0001c0002t0038 a0001c0003t0006 others(1): Show a0001c0001t0002 a0001c0002t0038 a0001c0003t0006 a0001c0015t0111	a0001c0001t0002g0023 a0001c0002t0038g0010 a0001c0003t0006g0027 others(1): Show a0001c0001t0002g0023 a0001c0002t0038g0010 a0001c0003t0006g0027 a0001c0015t0111g0146	4	200	0.0200	44	c.445 others(59): Show c.445+267_445+268insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	3/19			chr14	TogoVar
TTC7B_chr14_90519564_90821430	90780487	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0078 a0001c0004t0078	a0001c0004t0078g0071 a0001c0004t0078g0071	1	200	0.0050	44	c.445 others(59): Show c.445+250_445+251insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	3/19			chr14	TogoVar
TTLL11_chr9_121810674_122098308	121838781	A A	AAAGCAAG others(37): Show AAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGAAAGCAAGCAAGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	174	0.0058	44	c.184 others(65): Show c.1841-15903_1841-15902insGCTTGCTTGCTTTCTTGCTTGCTT GCTTGCTTGCTTGCTTGCTT	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8			chr9	TogoVar
TTLL12_chr22_43161622_43192134	43187184	C C	CCGCCCCG others(37): Show CCGCCCCGCCCCCCTCCCAGCCCCCCCGCCCCGCCCTCCTCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0153 a0001c0006t0007g0153	1	394	0.0025	44	c.-11 others(53): Show c.-116_-115insCTGGGAGGAGGGCGGGGCGGGGGGGCTGGGAGGGGG GCGGGGCG	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding		51		chr22	TogoVar
TTLL5_chr14_75656246_75960079	75874933	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0112 a0002c0005t0001g0112	1	198	0.0051	44	c.352 others(63): Show c.3523-7734_3523-7733insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0062 a0004c0006t0001g0062	1	198	0.0051	44	c.382 others(65): Show c.3823+11810_3823+11811insAAAAAAAAAATATATATATATATA TATATATATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	198	0.0051	44	c.382 others(65): Show c.3823+11810_3823+11811insAATATATATATATATATATATATA TATATATATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL6_chr17_48757234_48822229	48810817	A A	ATGTGTGT others(37): Show ATGTGTGTATATATATATAGTACATATATACACATATATAGTATG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19087.hp2 NA19058.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0186 a0001c0001t0003g0154 a0001c0001t0001g0186 a0001c0001t0003g0154	2	330	0.0061	44	c.104 others(61): Show c.104-5827_104-5826insCATACTATATATGTGTATATATGTACTA TATATATATACACACA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TTLL7_chr1_83860024_84004132	83892328	G G	GTATATAT others(37): Show GTATATATGAATATATATACGAATATATATGAATATATATACGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19043.hp1 HG00597.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0267 a0001c0001t0010g0150 a0001c0001t0002g0267 a0001c0001t0010g0150	2	302	0.0066	44	c.220 others(63): Show c.2209-1891_2209-1848dupTTCGTATATATATTCATATATATTCG TATATATATTCATATATA	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028623	C C	CCCCCACA others(37): Show CCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0133 a0011c0027t0001g0133	1	224	0.0045	44	c.225 others(63): Show c.2251+1806_2251+1807insTCTTCAGGACGGTGTGATGGGGGTCT CTACGAGTGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028765	C C	CCTCGTAA others(37): Show CCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0033 a0010c0020t0001g0033	1	224	0.0045	44	c.225 others(63): Show c.2251+1664_2251+1665insTGTGTGTGGGGGTCTTTAGGATGGTG TGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028908	C C	CCCCCATC others(37): Show CCCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	224	0.0045	44	c.225 others(63): Show c.2251+1521_2251+1522insTCTTTACGAGTGTGTGTGGGGGTCTT TAGGATGGTGTGATGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029026	C C	CACCCTCG others(37): Show CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01993.hp1 HG02300.hp2 HG01256.hp1 HG01993.hp1 HG02300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0021 a0004c0004t0002g0025 a0004c0004t0002g0026 a0004c0004t0002g0021 a0004c0004t0002g0025 a0004c0004t0002g0026	3	224	0.0134	44	c.225 others(63): Show c.2251+1403_2251+1404insATGTGGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029052	G G	GTCCTAAA others(37): Show GTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0011 a0006c0006t0002g0011	1	224	0.0045	44	c.225 others(63): Show c.2251+1377_2251+1378insTGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGGTCTTTAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029115	C C	CCTCGTAA others(37): Show CCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	224	0.0045	44	c.225 others(63): Show c.2251+1314_2251+1315insTGTGTGTGGGGGTCTTTAGGACGGTG TGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029158	C C	CCTCGTAA others(37): Show CCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19074.hp2 NA18959.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0107 a0001c0015t0001g0138 a0001c0001t0001g0107 a0001c0015t0001g0138	2	224	0.0089	44	c.225 others(63): Show c.2251+1271_2251+1272insTGTGTGTGGGGGTCTTTAGGACGGTG TGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029224	G G	GTCCTGAA others(37): Show GTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0118 a0003c0003t0001g0118	1	224	0.0045	44	c.225 others(63): Show c.2251+1205_2251+1206insTGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029319	A A	ACCCCACA others(37): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0002 a0016c0022t0002	a0016c0022t0002g0189 a0016c0022t0002g0189	1	224	0.0045	44	c.225 others(63): Show c.2251+1067_2251+1110dupGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029397	A A	ATCCTGAA others(37): Show ATCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	224	0.0045	44	c.225 others(63): Show c.2251+1032_2251+1033insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029406	A A	ACCCCACA others(37): Show ACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0019 a0020 a0019 a0020	a0019c0019 a0020c0017 a0019c0019 a0020c0017	a0019c0019t0001 a0020c0017t0001 a0019c0019t0001 a0020c0017t0001	a0019c0019t0001g0196 a0020c0017t0001g0192 a0019c0019t0001g0196 a0020c0017t0001g0192	2	224	0.0089	44	c.225 others(63): Show c.2251+1023_2251+1024insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029406	A A	ACCCCACA others(37): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	224	0.0045	44	c.225 others(63): Show c.2251+1023_2251+1024insGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG01106.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0024 a0001c0001t0013g0205 a0001c0001t0002g0024 a0001c0001t0013g0205	2	264	0.0076	44	c.113 others(61): Show c.113+2918_113+2919insCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(37): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0037 a0001c0001t0003g0028 a0001c0001t0003g0037	2	264	0.0076	44	c.113 others(61): Show c.113+2918_113+2919insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP5_chr15_22994177_23044569	23016969	G G	GATATGTA others(37): Show GATATGTATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0267 a0002c0005t0002g0267	1	351	0.0029	44	c.175 others(61): Show c.1756+803_1756+804insATATATATATATATATATATATATATAT ATATATATATACATAT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding	13/22			chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043968	A A	ATCATAAC others(37): Show ATCATAACCCCAGCTGGCCGGAGGTGCTGGGGAGCGGGGGGAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0265 a0002c0004t0002g0265	1	351	0.0029	44	c.-44 others(55): Show c.-4426_-4425insAGTTCCCCCCGCTCCCCAGCACCTCCGGCCAGCT GGGGTTATGA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4400		chr15	TogoVar

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Search Results (Total: 4475 hits)