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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
SLC39A12_chr10_17946918_18048285	18036771	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp2 HG01261.hp2 others(9): Show HG01168.hp2 HG01257.hp2 HG01261.hp2 HG01516.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0004 others(2): Show a0001c0001 a0001c0005 a0002c0004 a0003c0002 a0003c0020	a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 a0003c0002t0001 a0003c0020t0001	a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0005t0001g0160 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0005t0001g0160 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0147 a0002c0004t0001g0266 a0002c0004t0001g0271 a0003c0002t0001g0316 a0003c0020t0001g0324	12	368	0.0326	-19	c.194 others(38): Show c.1948-5933_1948-5915delATATATATATATATATATA	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12			chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18036773	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	368	0.0027	-19	c.194 others(38): Show c.1948-5931_1948-5913delATATATATATATATATATA	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12			chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22396391	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0106 a0003c0001t0001g0106	1	324	0.0031	-19	c.-15 others(36): Show c.-15-8304_-15-8286delAGAGAGAGAGAGAGAGAGA	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC3A1_chr2_44270480_44326494	44295186	AACTTGCT others(12): Show AACTTGCTTCCTTAATGTTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0288 a0001c0003t0003g0288	1	354	0.0028	-19	c.892 others(36): Show c.892-4776_892-4758delCCTTAATGTTGACTTGCTT	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC41A3_chr3_126001357_126089124	126087603	GAGGTAAT others(12): Show GAGGTAATTTTTGGTAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0337 a0001c0009t0008g0337	1	370	0.0027	-19	c.-35 others(30): Show c.-3557_-3539delTCTTTACCAAAAATTACCT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding		3480		chr3	TogoVar
SLC44A1_chr9_105239651_105402346	105376332	CACACACA others(12): Show CACACACACACACACACACT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG03486.hp2 others(1): Show HG01106.hp1 HG01255.hp1 HG03486.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0023 a0001c0001t0037 a0001c0001t0014 a0001c0001t0023 a0001c0001t0037	a0001c0001t0014g0003 a0001c0001t0014g0007 a0001c0001t0023g0074 others(1): Show a0001c0001t0014g0003 a0001c0001t0014g0007 a0001c0001t0023g0074 a0001c0001t0037g0020	4	142	0.0282	-19	c.163 others(38): Show c.1632+1610_1632+1628delACACACTACACACACACAC	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC45A3_chr1_205652851_205685509	205684356	ACCTTTTT others(12): Show ACCTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	404	0.0025	-19	c.-42 others(30): Show c.-4212_-4194delAAAAAAAAAAAAAAAAAGG	SLC45A3	ENSG00000158715.6	transcript	ENST00000367145.4	protein_coding		3848		chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203436	AGAGAGAG others(12): Show AGAGAGAGAGAGAGACCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0102 a0003c0002t0002g0102	1	188	0.0053	-19	c.81 others(30): Show c.8117_*8135delCACGGTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3737		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141233797	ACCCGTTT others(12): Show ACCCGTTTTGCTGTGCTTTT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0041 a0003c0002t0002g0041	1	188	0.0053	-19	c.242 others(38): Show c.242-12051_242-12033delAAAAGCACAGCAAAACGGG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141308466	ACCCCGCC others(12): Show ACCCCGCCCCCGAACGGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0090 a0002c0001t0001g0090	1	188	0.0053	-19	c.-79 others(28): Show c.-790_-772delCGGCCGTTCGGGGGCGGGG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		179		chr8	TogoVar
SLC49A3_chr4_676829_694151	681681	CCCCGCCC others(12): Show CCCCGCCCCCTCCAGCGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	412	0.0024	-19	c.25 others(28): Show c.258_*276delCGGCGCTGGAGGGGGCGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		147		chr4	TogoVar
SLC49A3_chr4_676829_694151	681701	CCCCGCCC others(12): Show CCCCGCCCCCTCCAGCGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-19	c.23 others(28): Show c.238_*256delCGGCGCTGGAGGGGGCGGG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		127		chr4	TogoVar
SLC49A4_chr3_122790069_122886139	122885294	GTACTGTG others(12): Show GTACTGTGAGAAAAGAAAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	342	0.0029	-19	c.59 others(30): Show c.5917_*5935delTACTGTGAGAAAAGAAAGT	SLC49A4	ENSG00000138463.9	transcript	ENST00000261038.6	protein_coding		4156		chr3	TogoVar
SLC4A10_chr2_161619416_161990270	161836509	AAAGAAAG others(12): Show AAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02258.hp2 others(5): Show HG01243.hp1 HG02055.hp1 HG02258.hp2 HG02647.hp2 HG02809.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0115 a0001c0001t0001g0116	8	118	0.0678	-19	c.278 others(36): Show c.278-3278_278-3260delAGAAAGAAAGAGAGAGAGA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A11_chr20_3222422_3244190	3237341	AATGGGCA others(12): Show AATGGGCAGCCTGCCCTCTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01358.hp1 HG01433.hp1 others(1): Show HG01074.hp2 HG01358.hp1 HG01433.hp1 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0058 a0001c0008t0001g0206 a0001c0008t0001g0207 a0001c0008t0001g0058 a0001c0008t0001g0206 a0001c0008t0001g0207	4	446	0.0090	-19	c.88+ others(32): Show c.88+184_88+202delGAGAGGGCAGGCTGCCCAT	SLC4A11	ENSG00000088836.14	transcript	ENST00000642402.1	protein_coding	2/19			chr20	TogoVar
SLC4A4_chr4_71182259_71577083	71439435	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 homoSapiens_chm13v2.hp1 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0125 a0001c0001t0002g0083 a0001c0001t0002g0125	2	152	0.0132	-19	c.808 others(36): Show c.808-1163_808-1145delAAAAAAAAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71439435	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 homoSapiens_chm13v2.hp1 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0209 a0001c0001t0002g0187 a0001c0001t0002g0209	2	234	0.0086	-19	c.676 others(36): Show c.676-1163_676-1145delAAAAAAAAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A7_chr3_27367723_27489384	27445948	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03834.hp2 NA18968.hp2 HG03041.hp1 HG03834.hp2 NA18968.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0003 a0005c0008 a0010c0017 a0002c0003 a0005c0008 a0010c0017	a0002c0003t0002 a0005c0008t0002 a0010c0017t0002 a0002c0003t0002 a0005c0008t0002 a0010c0017t0002	a0002c0003t0002g0164 a0005c0008t0002g0153 a0010c0017t0002g0156 a0002c0003t0002g0164 a0005c0008t0002g0153 a0010c0017t0002g0156	3	302	0.0099	-19	c.289 others(36): Show c.289+2684_289+2702delATATTTTTTTTTTTTTTTT	SLC4A7	ENSG00000033867.18	transcript	ENST00000454389.6	protein_coding	3/25			chr3	TogoVar
SLC4A7_chr3_27367723_27489384	27445950	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0172 a0002c0003t0002g0172	1	302	0.0033	-19	c.289 others(36): Show c.289+2682_289+2700delATATATTTTTTTTTTTTTT	SLC4A7	ENSG00000033867.18	transcript	ENST00000454389.6	protein_coding	3/25			chr3	TogoVar
SLC4A9_chr5_140355194_140380141	140375805	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	2	396	0.0051	-19	c.10 others(30): Show c.1025_*1043delAAAAAAAAAAAAAAAAAAA	SLC4A9	ENSG00000113073.15	transcript	ENST00000506757.7	protein_coding		665		chr5	TogoVar
SLC5A11_chr16_24840963_24916626	24890500	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00609.hp2 others(85): Show HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01928.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19058.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0005c0024 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0002c0003t0001 a0005c0024t0007 a0007c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0035 others(85): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0361 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0002t0001g0148 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0004t0001g0164 a0001c0004t0001g0232 a0001c0007t0001g0344 a0002c0003t0001g0034 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0189 a0002c0003t0001g0198 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0215 a0002c0003t0001g0222 a0002c0003t0001g0229 a0002c0003t0001g0241 a0002c0003t0001g0289 a0005c0024t0007g0249 a0007c0018t0001g0192	88	378	0.2328	-19	c.665 others(34): Show c.665-368_665-350delAAAAAAAAAAAAAAAGAAG	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	9/16			chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24913887	GTGATCCT others(12): Show GTGATCCTCCCACCTCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	378	0.0027	-19	c.23 others(30): Show c.2355_*2373delTGATCCTCCCACCTCAGCC	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		2262		chr16	TogoVar
SLC5A7_chr2_107981524_108018994	108002781	CTGAGGTG others(12): Show CTGAGGTGGAAGCCTCACTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG02647.hp1 others(7): Show HG01109.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0025	a0001c0001t0002g0046 a0001c0001t0002g0135 a0001c0001t0002g0189 others(6): Show a0001c0001t0002g0046 a0001c0001t0002g0135 a0001c0001t0002g0189 a0001c0001t0007g0192 a0001c0001t0007g0195 a0001c0001t0009g0141 a0001c0001t0009g0158 a0001c0001t0009g0217 a0001c0001t0025g0194	10	376	0.0266	-19	c.741 others(34): Show c.741+747_741+765delTGGAAGCCTCACTTTGAGG	SLC5A7	ENSG00000115665.9	transcript	ENST00000264047.3	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A11_chr3_10811228_10945714	10811799	TCCAAAAA others(12): Show TCCAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA20129.hp1 NA18956.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0006 a0001c0010t0001 a0001c0003t0006 a0001c0010t0001	a0001c0003t0006g0042 a0001c0010t0001g0340 a0001c0003t0006g0042 a0001c0010t0001g0340	2	362	0.0055	-19	c.-44 others(30): Show c.-4466_-4448delCCAAAAAAAAAAAAAAAAA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding		4428		chr3	TogoVar
SLC6A12_chr12_185081_219157	187613	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03098.hp1 NA20129.hp2 HG02486.hp2 HG03098.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0009 a0002c0005t0011 a0002c0003t0009 a0002c0005t0011	a0002c0003t0009g0110 a0002c0005t0011g0358 a0002c0005t0011g0359 a0002c0003t0009g0110 a0002c0005t0011g0358 a0002c0005t0011g0359	3	420	0.0071	-19	c.34 others(30): Show c.3436_*3454delGTTTTTTTTTTTTTTTTTT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		2467		chr12	TogoVar
SLC6A15_chr12_84854491_84917799	84875681	TATATATA others(12): Show TATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01169.hp1 others(5): Show HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0002g0007 a0001c0001t0002g0031 others(4): Show a0001c0001t0001g0141 a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0122 a0001c0001t0002g0142 a0001c0001t0002g0178	8	218	0.0367	-19	c.867 others(34): Show c.867+797_867+815delCATATATATATATATATAT	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	6/11			chr12	TogoVar
SLC6A15_chr12_84854491_84917799	84889502	ATAAAAAT others(12): Show ATAAAAATAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02055.hp2 others(11): Show HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02970.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0198 a0001c0002t0004g0185 a0001c0002t0004g0186 others(11): Show a0001c0001t0004g0198 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197	14	218	0.0642	-19	c.289 others(36): Show c.289+2311_289+2329delATTTTTATTTTTATTTTTA	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	2/11			chr12	TogoVar
SLC6A6_chr3_14397606_14494349	14436531	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	376	0.0027	-19	c.-11 others(36): Show c.-11-7061_-11-7043delTTTTTTTTTTTTTTTTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A9_chr1_43991483_44036462	44008687	ATTTCTTT others(12): Show ATTTCTTTTTTTTCTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01884.hp2 others(14): Show HG00639.hp1 HG01243.hp1 HG01884.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0213 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0213 a0001c0001t0001g0272 a0001c0001t0001g0291 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0002t0001g0275 a0001c0004t0001g0266 a0001c0004t0001g0293 a0001c0004t0001g0312 a0001c0004t0001g0338 a0001c0004t0001g0342	17	388	0.0438	-19	c.320 others(32): Show c.320-83_320-65delAGAAAAGAAAAAAAAGAAA	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding	4/13			chr1	TogoVar
SLC7A10_chr19_33203664_33230850	33217556	CCCTGGTA others(12): Show CCCTGGTAGAACCTGTAGGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG02145.hp2 others(28): Show HG01109.hp1 HG01123.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0011 a0002c0003 others(2): Show a0001c0001 a0001c0011 a0002c0003 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0011t0002 a0002c0003t0003 a0004c0006t0003 a0005c0008t0003	a0001c0001t0001g0025 a0001c0001t0001g0142 a0001c0001t0001g0145 others(27): Show a0001c0001t0001g0025 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0275 a0001c0001t0001g0335 a0001c0001t0001g0354 a0001c0001t0001g0363 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0002g0029 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0290 a0001c0001t0002g0362 a0001c0001t0003g0042 a0001c0001t0003g0358 a0001c0001t0004g0352 a0001c0011t0002g0040 a0002c0003t0003g0008 a0002c0003t0003g0026 a0002c0003t0003g0036 a0002c0003t0003g0128 a0002c0003t0003g0159 a0002c0003t0003g0338 a0002c0003t0003g0353 a0002c0003t0003g0361 a0002c0003t0003g0370 a0002c0003t0003g0371 a0004c0006t0003g0030 a0005c0008t0003g0027	31	410	0.0756	-19	c.152 others(36): Show c.152-1602_152-1584delACCTACAGGTTCTACCAGG	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A11_chr4_138159097_138247349	138237719	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0060 a0001c0001t0006g0060	1	364	0.0028	-19	c.278 others(36): Show c.278-1287_278-1269delATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237721	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0103 a0001c0001t0181g0103	1	364	0.0028	-19	c.278 others(36): Show c.278-1289_278-1271delAAATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237731	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19072.hp1 HG04228.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0139 a0001c0001t0016 a0001c0001t0139	a0001c0001t0016g0283 a0001c0001t0139g0257 a0001c0001t0016g0283 a0001c0001t0139g0257	2	364	0.0055	-19	c.278 others(36): Show c.278-1299_278-1281delAAAAAAAAAAAAATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A14_chr3_170454548_170591075	170587438	ATATTTTA others(12): Show ATATTTTAAGCTTTGAGTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02040.hp2 NA19074.hp1 others(1): Show HG00558.hp2 HG02040.hp2 NA19074.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0038	a0001c0001t0002g0200 a0001c0001t0003g0209 a0001c0001t0004g0198 others(1): Show a0001c0001t0002g0200 a0001c0001t0003g0209 a0001c0001t0004g0198 a0001c0001t0038g0187	4	308	0.0130	-19	c.-16 others(30): Show c.-1699_-1681delCTACTCAAAGCTTAAAATA	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding		1364		chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29558066	ATGGGGGG others(12): Show ATGGGGGGAGTGAATGTGAG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp1 HG02148.hp1 others(1): Show HG01943.hp2 HG01952.hp1 HG02148.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009	a0001c0002t0002g0159 a0001c0002t0004g0290 a0001c0002t0009g0197 others(1): Show a0001c0002t0002g0159 a0001c0002t0004g0290 a0001c0002t0009g0197 a0001c0002t0009g0289	4	330	0.0121	-19	c.-11 others(38): Show c.-114-4225_-114-4207delCTCACATTCACTCCCCCCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558149	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00621.hp2 others(63): Show HG00140.hp2 HG00408.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp2 HG02630.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG04115.hp2 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA19001.hp1 NA19007.hp1 NA19012.hp2 NA19064.hp2 NA19066.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0041 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0019 a0001c0002t0043 a0001c0004t0006 a0001c0004t0008 a0001c0004t0011 a0001c0010t0023 a0001c0020t0005 a0001c0021t0002 a0001c0022t0038	a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0169 others(60): Show a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0002g0277 a0001c0001t0003g0146 a0001c0001t0014g0264 a0001c0001t0041g0117 a0001c0001t0045g0082 a0001c0002t0001g0162 a0001c0002t0002g0010 a0001c0002t0002g0084 a0001c0002t0002g0111 a0001c0002t0002g0140 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0298 a0001c0002t0002g0313 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0147 a0001c0002t0004g0181 a0001c0002t0007g0001 a0001c0002t0007g0015 a0001c0002t0007g0018 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0032 a0001c0002t0007g0033 a0001c0002t0007g0034 a0001c0002t0007g0035 a0001c0002t0019g0019 a0001c0002t0043g0156 a0001c0004t0006g0087 a0001c0004t0006g0089 a0001c0004t0008g0058 a0001c0004t0011g0091 a0001c0004t0011g0092 a0001c0004t0011g0093 a0001c0004t0011g0094 a0001c0004t0011g0095 a0001c0004t0011g0096 a0001c0004t0011g0097 a0001c0010t0023g0049 a0001c0010t0023g0050 a0001c0020t0005g0312 a0001c0021t0002g0164 a0001c0022t0038g0138	66	330	0.2000	-19	c.-11 others(38): Show c.-114-4308_-114-4290delTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558189	GGGGGAGA others(12): Show GGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	330	0.0030	-19	c.-11 others(38): Show c.-114-4348_-114-4330delTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558552	ATGGGGAG others(12): Show ATGGGGAGAGAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19011.hp2 HG02451.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0002 a0002c0007t0016 a0001c0002t0002 a0002c0007t0016	a0001c0002t0002g0085 a0002c0007t0016g0112 a0001c0002t0002g0085 a0002c0007t0016g0112	2	330	0.0061	-19	c.-11 others(38): Show c.-114-4711_-114-4693delCACTCACATTCTCTCCCCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558795	GAGAGAAT others(12): Show GAGAGAATGTGAGTGAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	330	0.0030	-19	c.-11 others(38): Show c.-114-4954_-114-4936delTGCCTCACTCACATTCTCT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558872	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp2 NA18612.hp2 others(1): Show HG00438.hp1 HG02165.hp2 NA18612.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0006 a0001c0002t0004g0153 a0001c0002t0004g0160 a0001c0001t0001g0006 a0001c0002t0004g0153 a0001c0002t0004g0160	4	330	0.0121	-19	c.-11 others(38): Show c.-114-5031_-114-5013delTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559091	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	330	0.0030	-19	c.-11 others(38): Show c.-114-5250_-114-5232delTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559111	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	330	0.0030	-19	c.-11 others(38): Show c.-114-5270_-114-5252delTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559171	GGGGGAGA others(12): Show GGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0147 a0001c0002t0004g0147	1	330	0.0030	-19	c.-11 others(38): Show c.-114-5330_-114-5312delTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559292	GGGGGAGA others(12): Show GGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18957.hp2 NA18999.hp1 others(2): Show HG00738.hp2 NA18957.hp2 NA18999.hp1 NA19009.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0150 a0001c0002t0002g0166 a0001c0002t0002g0173 others(2): Show a0001c0002t0002g0150 a0001c0002t0002g0166 a0001c0002t0002g0173 a0001c0002t0002g0184 a0001c0002t0009g0306	5	330	0.0152	-19	c.-11 others(38): Show c.-114-5451_-114-5433delTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559352	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0288 a0001c0002t0039g0288	1	330	0.0030	-19	c.-11 others(38): Show c.-114-5511_-114-5493delTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559372	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp2 HG02965.hp1 others(2): Show HG02257.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0028 a0001c0001t0001 a0001c0001t0008 a0001c0001t0028	a0001c0001t0001g0064 a0001c0001t0008g0002 a0001c0001t0028g0055 a0001c0001t0001g0064 a0001c0001t0008g0002 a0001c0001t0028g0055	5	330	0.0152	-19	c.-11 others(38): Show c.-114-5531_-114-5513delTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559494	GGGGAGTG others(12): Show GGGGAGTGAATGTGAGTGAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02040.hp2 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0039 a0001c0002t0004 a0001c0002t0039	a0001c0002t0004g0147 a0001c0002t0039g0288 a0001c0002t0004g0147 a0001c0002t0039g0288	2	330	0.0061	-19	c.-11 others(38): Show c.-114-5653_-114-5635delGTCACTCACATTCACTCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A2_chr8_17492088_17575566	17562180	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03688.hp1 HG01069.hp2 HG01071.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0053g0296 a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0053g0296	3	450	0.0067	-19	c.167 others(35): Show c.1671+87_1671+105delTTTTTTTTTTTTTTTTTTT	SLC7A2	ENSG00000003989.18	transcript	ENST00000494857.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC7A5_chr16_87825023_87874507	87856020	CCTGTCTG others(12): Show CCTGTCTGTAAGTGGGAGTA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0210 a0001c0001t0047g0210	1	390	0.0026	-19	c.539 others(36): Show c.539-4190_539-4172delTACTCCCACTTACAGACAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87872874	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0030 a0001c0002t0055g0030	1	390	0.0026	-19	c.-34 others(30): Show c.-3471_-3453delAAAGAAAGAAAGAAAGAAA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3368		chr16	TogoVar

Search by Variant

Search

Search Results (Total: 7091 hits)