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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TOMM20L_chr14_58390930_58413702	58404119	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	362	0.0028	36	c.262 others(53): Show c.262+1359_262+1360insATATATATATATATATATATATATATTT TTTTTTTT	TOMM20L	ENSG00000196860.8	transcript	ENST00000360945.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOMM20L_chr14_58390930_58413702	58404119	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	362	0.0028	36	c.262 others(53): Show c.262+1359_262+1360insATATATATATATATATATATATTTTTTT TTTTTTTT	TOMM20L	ENSG00000196860.8	transcript	ENST00000360945.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOMM70_chr3_100358431_100406089	100376369	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0164 a0001c0001t0004g0145 a0001c0001t0004g0164	2	398	0.0050	36	c.109 others(55): Show c.1093-1218_1093-1217insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	TOMM70	ENSG00000154174.8	transcript	ENST00000284320.6	protein_coding	6/11			chr3	TogoVar
TOMT_chr11_72100924_72114596	72113599	T T	TATCCGCA others(29): Show TATCCGCATTTCCAGTACTGTCCTGGCCAGATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	402	0.0025	36	c.46 others(47): Show c.4674_*4675insATCCGCATTTCCAGTACTGTCCTGGCCAGATGTG TG	TOMT	ENSG00000284844.2	transcript	ENST00000541899.3	protein_coding		4004		chr11	TogoVar
TOR1AIP1_chr1_179877285_179925076	179880042	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0080 a0004c0005t0004g0080	1	290	0.0035	36	c.-24 others(47): Show c.-2461_-2460insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	TOR1AIP1	ENSG00000143337.19	transcript	ENST00000606911.7	protein_coding		2242		chr1	TogoVar
TOR1AIP2_chr1_179834976_179882803	179880042	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0006	1	280	0.0036	36	c.-30 others(47): Show c.-3051_-3050insCACACACACACACACACACACACACACACACACA CA	TOR1AIP2	ENSG00000169905.13	transcript	ENST00000609928.6	protein_coding		2240		chr1	TogoVar
TOX2_chr20_43909852_44074616	44026228	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02145.hp2 HG01169.hp1 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0111 a0002c0002t0002g0131 a0001c0001t0001g0111 a0002c0002t0002g0131	2	288	0.0069	36	c.411 others(55): Show c.411+19457_411+19458insTATATATATATATATATATATATATA TATATATATA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX2_chr20_43909852_44074616	44026248	T T	TATATATA others(29): Show TATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0229 a0001c0001t0001g0126 a0001c0001t0001g0229	2	288	0.0069	36	c.411 others(55): Show c.411+19457_411+19458insTATATATATATATATATATACACACA CACACACACA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX_chr8_58800412_59124147	59021499	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	224	0.0045	36	c.103 others(55): Show c.103-61492_103-61491insGTGTATATATATATATATATATATAT ATATATATAT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53BP2_chr1_223774893_223850947	223817240	T T	TGAGGGGG others(29): Show TGAGGGGGAGGGAAAGGAGGAGGGGGAGGGAAAGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0266 a0002c0004t0002g0266	1	380	0.0026	36	c.176 others(53): Show c.176-2923_176-2888dupCTCCTTTCCCTCCCCCTCCTCCTTTCCC TCCCCCTC	TP53BP2	ENSG00000143514.18	transcript	ENST00000343537.12	protein_coding	2/17			chr1	TogoVar
TP53BP2_chr1_223774893_223850947	223817315	G G	GGGGGAGG others(29): Show GGGGGAGGGAAAGGAGGAGGGGGAGGGAAAGGAGGAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18994.hp2 NA18995.hp1 NA18967.hp1 NA18994.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0241 a0001c0002t0002g0337 a0001c0002t0002g0226 a0001c0002t0002g0241 a0001c0002t0002g0337	3	380	0.0079	36	c.176 others(53): Show c.176-2963_176-2962insGTCCTCCTTTCCCTCCCCCTCCTCCTTT CCCTCCCC	TP53BP2	ENSG00000143514.18	transcript	ENST00000343537.12	protein_coding	2/17			chr1	TogoVar
TP63_chr3_189626389_189902276	189875611	T T	TATATATA others(29): Show TATATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	312	0.0032	36	c.134 others(55): Show c.1349+2623_1349+2624insCATATATATATATATATATATATATA TACATATATA	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189784659_189902276	189875611	T T	TATATATA others(29): Show TATATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0022 a0001c0001t0026g0022	1	398	0.0025	36	c.106 others(55): Show c.1067+2623_1067+2624insCATATATATATATATATATATATATA TACATATATA	TP63	ENSG00000073282.14	transcript	ENST00000354600.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP73_chr1_3647516_3741201	3658805	A A	ACGTATTC others(29): Show ACGTATTCTAGTCTCCTACAGTCATATTTAGGGGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	358	0.0028	36	c.-34 others(53): Show c.-34+6172_-34+6173insAGTCTCCTACAGTCATATTTAGGGGTGG CGTATTCT	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694118	G G	GCCATGCA others(29): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	358	0.0028	36	c.186 others(55): Show c.186+10956_186+10957insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694379	A A	AGCCCCCT others(29): Show AGCCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03130.hp2 NA18906.hp1 HG01123.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0008 a0001c0001t0001 a0001c0002t0001 a0001c0007t0008	a0001c0001t0001g0029 a0001c0002t0001g0017 a0001c0007t0008g0023 a0001c0001t0001g0029 a0001c0002t0001g0017 a0001c0007t0008g0023	3	358	0.0084	36	c.186 others(55): Show c.186+11204_186+11205insCTCCTCCCGCAATCCCACCCATGCAG CCTCCGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(29): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(116): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0019 a0001c0027 a0004c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0051 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0024 a0001c0002t0045 a0001c0003t0006 a0001c0003t0017 a0001c0003t0059 a0001c0005t0011 a0001c0006t0018 a0001c0016t0002 a0001c0018t0009 a0001c0019t0009 a0001c0027t0001 a0004c0021t0003	a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0097 others(116): Show a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0002g0024 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0134 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0193 a0001c0001t0002g0202 a0001c0001t0002g0236 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0329 a0001c0001t0002g0335 a0001c0001t0002g0354 a0001c0001t0003g0003 a0001c0001t0003g0044 a0001c0001t0003g0055 a0001c0001t0003g0116 a0001c0001t0003g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0160 a0001c0001t0003g0219 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0309 a0001c0001t0003g0314 a0001c0001t0003g0318 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0357 a0001c0001t0004g0098 a0001c0001t0004g0110 a0001c0001t0004g0120 a0001c0001t0004g0174 a0001c0001t0004g0250 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0355 a0001c0001t0005g0042 a0001c0001t0005g0204 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0007g0194 a0001c0001t0007g0205 a0001c0001t0007g0282 a0001c0001t0008g0273 a0001c0001t0010g0079 a0001c0001t0010g0199 a0001c0001t0010g0352 a0001c0001t0012g0031 a0001c0001t0012g0040 a0001c0001t0012g0190 a0001c0001t0021g0249 a0001c0001t0021g0252 a0001c0001t0030g0142 a0001c0001t0032g0253 a0001c0001t0051g0071 a0001c0002t0001g0018 a0001c0002t0001g0063 a0001c0002t0001g0106 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0182 a0001c0002t0001g0188 a0001c0002t0001g0235 a0001c0002t0001g0275 a0001c0002t0001g0300 a0001c0002t0003g0259 a0001c0002t0005g0092 a0001c0002t0008g0015 a0001c0002t0024g0008 a0001c0002t0045g0310 a0001c0003t0006g0152 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0159 a0001c0003t0006g0330 a0001c0003t0006g0336 a0001c0003t0006g0337 a0001c0003t0017g0227 a0001c0003t0059g0121 a0001c0005t0011g0002 a0001c0006t0018g0215 a0001c0006t0018g0217 a0001c0016t0002g0308 a0001c0018t0009g0328 a0001c0019t0009g0045 a0001c0027t0001g0099 a0004c0021t0003g0138	119	358	0.3324	36	c.186 others(55): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3739314	T T	TACAATCA others(29): Show TACAATCAACCCAGCTGATGACCTCTATCTAACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01070.hp1 HG00140.hp2 HG01069.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0345 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0002g0345 a0001c0001t0004g0298 a0001c0001t0004g0299	3	358	0.0084	36	c.62 others(47): Show c.6235_*6236insACAATCAACCCAGCTGATGACCTCTATCTAACCC AC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding		3114		chr1	TogoVar
TPCN2_chr11_69043932_69095597	69069079	C C	CGCAGTGG others(29): Show CGCAGTGGGAGCAGGACTCTTTGAGTCCTAGGAAGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0134 a0003c0003t0002g0134	1	404	0.0025	36	c.830 others(53): Show c.830-1351_830-1350insGCAGTGGGAGCAGGACTCTTTGAGTCCT AGGAAGTG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24			chr11	TogoVar
TPCN2_chr11_69043932_69095597	69086800	A A	AGTGCTCC others(29): Show AGTGCTCCTGACATCTGGGCTGCTGGGGCCTTGGGGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18945.hp2 NA18993.hp1 others(4): Show NA18942.hp1 NA18945.hp2 NA18993.hp1 NA18997.hp2 NA19004.hp2 NA19080.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0292 a0001c0001t0005g0295 others(1): Show a0001c0001t0005g0011 a0001c0001t0005g0292 a0001c0001t0005g0295 a0001c0001t0005g0296	7	404	0.0173	36	c.208 others(53): Show c.2085+254_2086-219dupCTGGGGCCTTGGGGGGTGCTCCTGACAT CTGGGCTG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69086833	G G	GGGGGTGC others(29): Show GGGGGTGCTCCTGACATCTGGGCTGCTGGGGCCTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025	a0001c0001 a0001c0005 a0002c0002 others(38): Show a0001c0001 a0001c0005 a0002c0002 a0002c0018 a0002c0019 a0002c0027 a0002c0029 a0002c0033 a0003c0003 a0003c0020 a0003c0025 a0003c0042 a0004c0006 a0004c0008 a0004c0011 a0004c0013 a0004c0015 a0004c0016 a0004c0023 a0004c0031 a0005c0004 a0006c0007 a0006c0030 a0007c0009 a0008c0010 a0009c0012 a0010c0014 a0011c0017 a0012c0021 a0013c0043 a0014c0038 a0015c0037 a0016c0036 a0017c0034 a0018c0022 a0019c0032 a0020c0024 a0021c0026 a0022c0028 a0024c0039 a0025c0040	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(67): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0005t0004 a0001c0005t0042 a0002c0002t0001 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0041 a0002c0018t0001 a0002c0019t0001 a0002c0027t0001 a0002c0029t0001 a0002c0033t0001 a0003c0003t0002 a0003c0003t0039 a0003c0020t0002 a0003c0025t0002 a0003c0042t0002 a0004c0006t0002 a0004c0006t0007 a0004c0006t0009 a0004c0006t0018 a0004c0006t0019 a0004c0006t0020 a0004c0006t0036 a0004c0006t0037 a0004c0008t0001 a0004c0008t0004 a0004c0008t0013 a0004c0008t0017 a0004c0008t0031 a0004c0008t0034 a0004c0011t0012 a0004c0013t0015 a0004c0015t0014 a0004c0016t0014 a0004c0023t0019 a0004c0031t0012 a0005c0004t0007 a0005c0004t0008 a0005c0004t0032 a0005c0004t0038 a0006c0007t0006 a0006c0007t0021 a0006c0030t0006 a0007c0009t0004 a0008c0010t0006 a0008c0010t0024 a0009c0012t0002 a0010c0014t0013 a0011c0017t0016 a0012c0021t0001 a0013c0043t0025 a0014c0038t0009 a0015c0037t0001 a0016c0036t0001 a0017c0034t0003 a0018c0022t0001 a0019c0032t0003 a0020c0024t0007 a0021c0026t0002 a0022c0028t0040 a0024c0039t0006 a0025c0040t0014	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0012 others(274): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0005g0278 a0001c0001t0016g0018 a0001c0005t0004g0001 a0001c0005t0004g0008 a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0056 a0001c0005t0004g0085 a0001c0005t0004g0087 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0092 a0001c0005t0004g0094 a0001c0005t0004g0095 a0001c0005t0004g0096 a0001c0005t0004g0097 a0001c0005t0004g0098 a0001c0005t0042g0089 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0189 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0023g0003 a0002c0002t0026g0003 a0002c0002t0027g0246 a0002c0002t0028g0251 a0002c0002t0029g0224 a0002c0002t0030g0005 a0002c0002t0041g0241 a0002c0018t0001g0005 a0002c0019t0001g0039 a0002c0027t0001g0186 a0002c0029t0001g0273 a0002c0033t0001g0040 a0003c0003t0002g0009 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0027 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0158 a0003c0003t0002g0160 a0003c0003t0002g0166 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0039g0127 a0003c0020t0002g0115 a0003c0020t0002g0164 a0003c0025t0002g0136 a0003c0042t0002g0099 a0004c0006t0002g0159 a0004c0006t0007g0150 a0004c0006t0009g0016 a0004c0006t0009g0190 a0004c0006t0009g0192 a0004c0006t0009g0213 a0004c0006t0009g0214 a0004c0006t0009g0215 a0004c0006t0009g0216 a0004c0006t0009g0217 a0004c0006t0018g0015 a0004c0006t0019g0270 a0004c0006t0020g0047 a0004c0006t0036g0218 a0004c0006t0037g0191 a0004c0008t0001g0219 a0004c0008t0004g0105 a0004c0008t0013g0194 a0004c0008t0013g0196 a0004c0008t0013g0197 a0004c0008t0017g0106 a0004c0008t0017g0183 a0004c0008t0017g0184 a0004c0008t0031g0195 a0004c0008t0034g0185 a0004c0011t0012g0201 a0004c0011t0012g0203 a0004c0011t0012g0204 a0004c0011t0012g0205 a0004c0011t0012g0206 a0004c0011t0012g0210 a0004c0013t0015g0038 a0004c0013t0015g0208 a0004c0013t0015g0209 a0004c0013t0015g0211 a0004c0015t0014g0052 a0004c0015t0014g0053 a0004c0016t0014g0049 a0004c0016t0014g0050 a0004c0023t0019g0271 a0004c0031t0012g0202 a0005c0004t0007g0026 a0005c0004t0007g0037 a0005c0004t0007g0111 a0005c0004t0007g0141 a0005c0004t0007g0142 a0005c0004t0007g0146 a0005c0004t0007g0147 a0005c0004t0007g0148 a0005c0004t0007g0149 a0005c0004t0007g0154 a0005c0004t0007g0161 a0005c0004t0007g0162 a0005c0004t0007g0268 a0005c0004t0007g0269 a0005c0004t0008g0010 a0005c0004t0008g0081 a0005c0004t0008g0109 a0005c0004t0008g0122 a0005c0004t0008g0138 a0005c0004t0008g0140 a0005c0004t0008g0151 a0005c0004t0008g0180 a0005c0004t0008g0225 a0005c0004t0032g0163 a0005c0004t0038g0139 a0006c0007t0006g0004 a0006c0007t0006g0168 a0006c0007t0006g0169 a0006c0007t0006g0171 a0006c0007t0006g0172 a0006c0007t0006g0173 a0006c0007t0006g0175 a0006c0007t0006g0176 a0006c0007t0006g0177 a0006c0007t0006g0188 a0006c0007t0021g0036 a0006c0030t0006g0167 a0007c0009t0004g0001 a0007c0009t0004g0083 a0007c0009t0004g0084 a0007c0009t0004g0086 a0007c0009t0004g0093 a0008c0010t0006g0025 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0103 a0008c0010t0024g0025 a0009c0012t0002g0028 a0009c0012t0002g0032 a0009c0012t0002g0114 a0009c0012t0002g0165 a0010c0014t0013g0198 a0010c0014t0013g0199 a0010c0014t0013g0200 a0011c0017t0016g0018 a0011c0017t0016g0285 a0012c0021t0001g0222 a0012c0021t0001g0253 a0013c0043t0025g0104 a0014c0038t0009g0212 a0015c0037t0001g0237 a0016c0036t0001g0187 a0017c0034t0003g0007 a0018c0022t0001g0240 a0019c0032t0003g0019 a0020c0024t0007g0179 a0021c0026t0002g0193 a0022c0028t0040g0242 a0024c0039t0006g0174 a0025c0040t0014g0054	351	404	0.8688	36	c.208 others(53): Show c.2086-244_2086-243insTGGGGTGCTCCTGACATCTGGGCTGCTG GGGCCTTG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01515.hp1 others(15): Show HG00423.hp2 HG00639.hp1 HG01515.hp1 HG02004.hp1 HG02004.hp2 HG02622.hp2 HG02717.hp2 HG03239.hp2 HG03540.hp1 NA18943.hp1 NA18951.hp1 NA18957.hp2 NA18963.hp2 NA18973.hp2 NA19062.hp2 NA19082.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(15): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0088 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0079	18	320	0.0563	36	c.19+ others(53): Show c.19+11129_19+11130insATATATATATATATATATATATATATAT TTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125260854	G G	GAGAGAGA others(29): Show GAGAGAGAAAGAAAGAAAAGAAAGAAAGAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	320	0.0031	36	c.487 others(53): Show c.487-1973_487-1938dupAAAGAAAGAAAAGAAAGAAAGAAAAAGA AAAGAGAG	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPH2_chr12_71933845_72037440	71982015	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00735.hp1 others(8): Show HG00140.hp1 HG00438.hp2 HG00735.hp1 HG01255.hp1 HG01943.hp1 HG02074.hp1 HG02080.hp1 HG03017.hp1 NA18950.hp2 NA18990.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0093 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0244 a0002c0005t0001g0131	11	334	0.0329	36	c.941 others(53): Show c.941+2945_941+2946insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPO_chr2_1408463_1548673	1517553	T T	TCCTTGCT others(29): Show TCCTTGCTGCTGCCTCTCACCTTGCTGCTGCCTCTCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02615.hp1 NA18612.hp1 HG02004.hp2 HG02615.hp1 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 a0001c0001 a0002c0002 a0002c0015	a0001c0001t0001 a0002c0002t0003 a0002c0015t0003 a0001c0001t0001 a0002c0002t0003 a0002c0015t0003	a0001c0001t0001g0061 a0002c0002t0003g0127 a0002c0015t0003g0111 a0001c0001t0001g0061 a0002c0002t0003g0127 a0002c0015t0003g0111	3	130	0.0231	36	c.261 others(53): Show c.2618+726_2618+761dupGCCTCTCACCTTGCTGCTGCCTCTCACC TTGCTGCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPST1_chr7_66200334_66365443	66276365	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG02109.hp2 others(10): Show HG00558.hp2 HG01074.hp2 HG02109.hp2 HG02486.hp1 HG02738.hp1 HG03516.hp1 HG03540.hp1 NA18945.hp1 NA18951.hp2 NA18998.hp1 NA19083.hp1 NA19084.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0150 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0086 a0001c0001t0002g0127	13	346	0.0376	36	c.846 others(55): Show c.846-10130_846-10129insATATATATATATATATATATATATAT ATATATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPX2_chr20_31734290_31806800	31766454	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	270	0.0037	36	c.230 others(49): Show c.230-74_230-73insATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TRABD2B_chr1_47755528_48002385	47863372	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18998.hp1 NA19060.hp2 NA18954.hp2 NA18998.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0008 a0001c0001t0001 a0001c0001t0003 a0001c0002t0008	a0001c0001t0001g0178 a0001c0001t0003g0244 a0001c0002t0008g0027 a0001c0001t0001g0178 a0001c0001t0003g0244 a0001c0002t0008g0027	3	244	0.0123	36	c.667 others(55): Show c.667-61754_667-61753insTATATATATATATATATATATATATA TATATATATA	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47863372	T T	TTATTTAT others(29): Show TTATTTATATTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0036 a0001c0001t0020 a0001c0001t0036	a0001c0001t0020g0118 a0001c0001t0036g0060 a0001c0001t0020g0118 a0001c0001t0036g0060	2	244	0.0082	36	c.667 others(55): Show c.667-61754_667-61753insTATATATATATATATATATATATATA AATATAAATA	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47863374	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	244	0.0041	36	c.667 others(55): Show c.667-61756_667-61755insCATATATATATATATATATATATATA TATATATATA	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRAF3_chr14_102772449_102916500	102846638	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0003 a0001c0003t0034g0003	1	296	0.0034	36	c.-18 others(55): Show c.-18+16194_-18+16195insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAF3_chr14_102772449_102916500	102877306	G G	GCTCAGCT others(29): Show GCTCAGCTCATAGATAATCCATTCCACAGGCCTTCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02723.hp2 others(2): Show HG00733.hp2 HG01123.hp1 HG02723.hp2 HG02738.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0033 a0001c0001t0067 others(1): Show a0001c0001t0021 a0001c0001t0033 a0001c0001t0067 a0001c0001t0068	a0001c0001t0021g0057 a0001c0001t0021g0099 a0001c0001t0033g0123 others(2): Show a0001c0001t0021g0057 a0001c0001t0021g0099 a0001c0001t0033g0123 a0001c0001t0067g0125 a0001c0001t0068g0029	5	296	0.0169	36	c.570 others(51): Show c.570+799_570+800insCATTCCACAGGCCTTCCACTCAGCTCATAG ATAATC	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAF3_chr14_102772449_102916500	102877491	A A	ACTCATAG others(29): Show ACTCATAGATAATCCGTTCCACAGGCCTTCCGCTCAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	296	0.0034	36	c.570 others(52): Show c.570+981_570+1016dupGTTCCACAGGCCTTCCGCTCAGCTCATAG ATAATCC	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAK1_chr3_42086357_42230890	42110094	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	288	0.0035	36	c.92- others(53): Show c.92-15323_92-15288dupTATATATATATATATATATATATATATA TATATATA	TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRAM2_chr6_52492408_52582060	52493365	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02572.hp1 HG03942.hp2 others(1): Show HG00408.hp2 HG02572.hp1 HG03942.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 a0001c0001t0003 a0001c0001t0016 a0001c0001t0018	a0001c0001t0003g0079 a0001c0001t0003g0314 a0001c0001t0016g0039 others(1): Show a0001c0001t0003g0079 a0001c0001t0003g0314 a0001c0001t0016g0039 a0001c0001t0018g0214	4	378	0.0106	36	c.98 others(47): Show c.9831_*9832insATATATATATATATATATATATATATATATATAT AT	TRAM2	ENSG00000065308.5	transcript	ENST00000182527.4	protein_coding		4042		chr6	TogoVar
TRANK1_chr3_36821819_36950054	36879629	T T	TATAAATA others(29): Show TATAAATATATAAATATATATAAATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0170 a0001c0004t0007g0170	1	330	0.0030	36	c.908 others(53): Show c.908-5334_908-5333insTTATATTTATATATTTATATATATTTAT ATATTTAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879667	T T	TATATAAA others(29): Show TATATAAATATATAAATATATAAATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0199 a0001c0008t0001g0199	1	330	0.0030	36	c.908 others(53): Show c.908-5407_908-5372dupTTATATTTATATATTTATATATTTATAT ATTTATAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879717	A A	AATATATA others(29): Show AATATATAAATATAAAAATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0007 a0001c0026t0007	a0001c0026t0007g0072 a0001c0026t0007g0072	1	330	0.0030	36	c.908 others(53): Show c.908-5422_908-5421insATTTATATATATTTATATATTTTTATAT TTATATAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879794	A A	ATAAATAT others(29): Show ATAAATATACAAATATATGTAAATATACAAATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG03654.hp1 others(3): Show HG00544.hp2 HG02027.hp1 HG03654.hp1 NA18747.hp2 NA18972.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0001c0012t0001	a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0002g0248 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0002g0248 a0001c0009t0002g0246 a0001c0012t0001g0250 a0001c0012t0001g0252	6	330	0.0182	36	c.908 others(53): Show c.908-5534_908-5499dupCATATATTTGTATATTTACATATATTTG TATATTTA	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879794	A A	ATAAATAT others(29): Show ATAAATATATAAATATATGTAAATATACAAATATATG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	330	0.0030	36	c.908 others(53): Show c.908-5499_908-5498insCATATATTTGTATATTTACATATATTTA TATATTTA	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879794	A A	ATAAATAT others(29): Show ATAAATATATAAATATATGTAAATATATAAATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	330	0.0030	36	c.908 others(53): Show c.908-5499_908-5498insCATATATTTATATATTTACATATATTTA TATATTTA	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879824	A A	ATATATGT others(29): Show ATATATGTAAATATACAAATATATGTAAATATACAAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	330	0.0030	36	c.908 others(53): Show c.908-5529_908-5528insCTTGTATATTTACATATATTTGTATATT TACATATA	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879842	A A	ATATATGT others(29): Show ATATATGTAAATATACAAATATATGTAAATATACAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01928.hp1 HG01943.hp1 others(3): Show HG00140.hp1 HG01928.hp1 HG01943.hp1 HG03239.hp2 HG03669.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0099	6	330	0.0182	36	c.908 others(53): Show c.908-5547_908-5546insCTTGTATATTTACATATATTTGTATATT TACATATA	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879853	T T	TATACAAA others(29): Show TATACAAATATATGTAAATATACAAATATATGTAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	330	0.0030	36	c.908 others(53): Show c.908-5558_908-5557insGTTTACATATATTTGTATATTTACATAT ATTTGTAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36879943	C C	CATACAAA others(29): Show CATACAAATATATGTAAACATACAAATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02145.hp1 HG01243.hp1 HG01433.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	3	330	0.0091	36	c.908 others(53): Show c.908-5648_908-5647insATTTACATATATTTGTATGTTTACATAT ATTTGTAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36880064	G G	GTAAACAT others(29): Show GTAAACATACAAATATATGTAAACATGCAAATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18950.hp2 NA19003.hp1 others(2): Show HG01074.hp1 NA18950.hp2 NA19003.hp1 NA19056.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0003g0002	5	330	0.0152	36	c.908 others(53): Show c.908-5769_908-5768insTATATATTTGCATGTTTACATATATTTG TATGTTTA	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRANK1_chr3_36821819_36950054	36900851	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0271 a0001c0008t0001g0271	1	330	0.0030	36	c.283 others(53): Show c.283-1593_283-1592insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	3/23			chr3	TogoVar
TRAPPC10_chr21_44007309_44111552	44047532	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	254	0.0039	36	c.286 others(53): Show c.286-4714_286-4713insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	TRAPPC10	ENSG00000160218.13	transcript	ENST00000291574.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRAPPC3L_chr6_116489989_116550684	116494961	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	360	0.0028	36	c.19 others(47): Show c.1992_*1993insAAAATATATATATATATATATATATATATATATA TA	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding		27		chr6	TogoVar
TRAPPC3L_chr6_116489989_116550684	116494961	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	360	0.0028	36	c.19 others(47): Show c.1992_*1993insAAAAAATATATATATATATATATATATATATATA TA	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding		27		chr6	TogoVar

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Search Results (Total: 8848 hits)