Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(12): Show ATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02135.hp2 HG02976.hp1 others(1): Show HG00099.hp2 HG02135.hp2 HG02976.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0193 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0193 a0001c0001t0001g0232 a0001c0001t0001g0262	4	394	0.0102	19	c.24 others(30): Show c.2463_*2464insAAATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA18962.hp2 NA18970.hp1 others(2): Show HG01109.hp2 NA18962.hp2 NA18970.hp1 NA18984.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0173 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0173 a0001c0001t0001g0204 a0001c0001t0001g0229 a0001c0001t0001g0259	5	394	0.0127	19	c.24 others(30): Show c.2463_*2464insAAAAATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19085.hp1 NA19078.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0163 a0001c0001t0001g0010 a0001c0001t0002g0163	2	394	0.0051	19	c.24 others(30): Show c.2463_*2464insAAAAAAATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	394	0.0025	19	c.24 others(30): Show c.2463_*2464insAAAAAAAAAAATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLC11A2_chr12_50980992_51031384	51026520	T T	TGCGGCGG others(12): Show TGCGGCGGCCCCTGGGGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	370	0.0027	19	c.-26 others(28): Show c.-268_-250dupGTGCCCCAGGGGCCGCCGC	SLC11A2	ENSG00000110911.17	transcript	ENST00000262052.9	protein_coding		137		chr12	TogoVar
SLC12A3_chr16_56860207_56920850	56887798	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0384 a0001c0003t0004g0384	1	420	0.0024	19	c.217 others(36): Show c.2179-126_2179-125insATATATATATATATATATT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56887798	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0047 a0001c0008 a0001c0047	a0001c0008t0002 a0001c0047t0002 a0001c0008t0002 a0001c0047t0002	a0001c0008t0002g0257 a0001c0047t0002g0108 a0001c0008t0002g0257 a0001c0047t0002g0108	2	420	0.0048	19	c.217 others(36): Show c.2179-126_2179-125insATATATATATATATTTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56887799	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03834.hp2 HG03471.hp2 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0003 a0003c0006t0003 a0001c0003t0003 a0003c0006t0003	a0001c0003t0003g0125 a0003c0006t0003g0358 a0001c0003t0003g0125 a0003c0006t0003g0358	2	420	0.0048	19	c.217 others(36): Show c.2179-126_2179-125insATATATATATATATATATA	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25			chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34235431	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0010 a0001c0005t0008g0182 a0001c0005t0008g0010 a0001c0005t0008g0182	2	274	0.0073	19	c.322 others(36): Show c.3228-136_3228-118dupAAAAAAAAAAAAAAAAAAA	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	24/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285715	T T	TACACACA others(12): Show TACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01346.hp2 others(5): Show HG00642.hp2 HG01070.hp2 HG01346.hp2 HG01361.hp1 HG03834.hp1 NA18980.hp1 NA18981.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0013 a0001c0005t0019 others(1): Show a0001c0001t0001 a0001c0005t0013 a0001c0005t0019 a0001c0005t0059	a0001c0001t0001g0075 a0001c0005t0013g0270 a0001c0005t0013g0271 others(5): Show a0001c0001t0001g0075 a0001c0005t0013g0270 a0001c0005t0013g0271 a0001c0005t0013g0272 a0001c0005t0013g0273 a0001c0005t0019g0188 a0001c0005t0019g0189 a0001c0005t0059g0269	8	274	0.0292	19	c.272 others(38): Show c.272-10327_272-10326insTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TACACACA others(12): Show TACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02451.hp2 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0058 a0001c0003t0054 a0001c0003t0058	a0001c0003t0054g0257 a0001c0003t0058g0260 a0001c0003t0054g0257 a0001c0003t0058g0260	2	274	0.0073	19	c.272 others(38): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TATACACA others(12): Show TATACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18961.hp1 NA18969.hp1 HG02074.hp2 NA18961.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0125	3	274	0.0110	19	c.272 others(38): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTAT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34323940	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(54): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01109.hp2 HG01361.hp2 HG01496.hp1 HG02015.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp1 HG02965.hp2 HG02970.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0002c0011 a0003c0016	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(16): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0035 a0001c0002t0036 a0001c0002t0048 a0001c0003t0030 a0001c0004t0003 a0001c0004t0052 a0001c0006t0001 a0001c0006t0032 a0001c0006t0057 a0001c0010t0002 a0002c0011t0002 a0002c0011t0033 a0003c0016t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0204 others(53): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0204 a0001c0001t0005g0030 a0001c0002t0002g0001 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0258 a0001c0002t0014g0199 a0001c0002t0014g0212 a0001c0002t0015g0239 a0001c0002t0020g0064 a0001c0002t0020g0224 a0001c0002t0035g0210 a0001c0002t0036g0208 a0001c0002t0048g0234 a0001c0003t0030g0006 a0001c0004t0003g0192 a0001c0004t0003g0193 a0001c0004t0003g0254 a0001c0004t0052g0191 a0001c0006t0001g0230 a0001c0006t0001g0231 a0001c0006t0032g0244 a0001c0006t0057g0253 a0001c0010t0002g0245 a0002c0011t0002g0213 a0002c0011t0033g0241 a0003c0016t0001g0017	57	274	0.2080	19	c.271 others(38): Show c.271+12469_271+12470insTTTTTTTTTTTTTTTTTTT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC15A2_chr3_121889401_121949188	121944889	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	338	0.0030	19	c.38 others(30): Show c.3882_*3883insAGGAAGGAAGGAAGGAAGG	SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding		702		chr3	TogoVar
SLC15A2_chr3_121889401_121949188	121948422	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA18950.hp1 NA18965.hp2 others(4): Show HG02976.hp1 NA18950.hp1 NA18965.hp2 NA18971.hp2 NA18998.hp1 NA19001.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0157 a0002c0002t0001g0161 others(4): Show a0002c0002t0001g0010 a0002c0002t0001g0157 a0002c0002t0001g0161 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0198 a0002c0002t0001g0216	7	338	0.0207	19	c.74 others(30): Show c.7415_*7416insTTCTTTTTTTTTTTTTTTT	SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding		4235		chr3	TogoVar
SLC15A2_chr3_121889401_121949188	121948422	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG01099.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0194 a0002c0002t0005g0196 a0002c0002t0001g0194 a0002c0002t0005g0196	2	338	0.0059	19	c.74 others(30): Show c.7415_*7416insTTTTTTTTTTTTTTTTTTT	SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding		4235		chr3	TogoVar
SLC16A11_chr17_7036621_7049092	7037341	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG03195.hp1 HG02615.hp2 HG02723.hp2 HG03195.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0009 a0002c0007t0001g0009	3	420	0.0071	19	c.43 others(30): Show c.4337_*4338insTTTTTTTTTTTTTTTTTTT	SLC16A11	ENSG00000174326.15	transcript	ENST00000574600.3	protein_coding		4279		chr17	TogoVar
SLC16A12_chr10_89425299_89540594	89436868	A A	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01123.hp2 others(2): Show HG00280.hp1 HG00597.hp2 HG01123.hp2 NA18957.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003	a0001c0001t0003g0275 a0002c0002t0001g0027 a0002c0002t0001g0084 others(2): Show a0001c0001t0003g0275 a0002c0002t0001g0027 a0002c0002t0001g0084 a0002c0002t0001g0269 a0002c0002t0003g0141	5	292	0.0171	19	c.102 others(36): Show c.1029-550_1029-549insCTTTCTTTCTTTCTTTTTT	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding	6/7			chr10	TogoVar
SLC16A12_chr10_89425299_89540594	89539857	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	292	0.0034	19	c.-46 others(30): Show c.-4603_-4602insGAAAGAAAGAAAGAAAGAA	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding		4264		chr10	TogoVar
SLC16A13_chr17_7031015_7045117	7037341	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG03195.hp1 HG02615.hp1 HG02723.hp2 HG03195.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0012 a0001c0003 a0008c0012	a0001c0003t0002 a0008c0012t0002 a0001c0003t0002 a0008c0012t0002	a0001c0003t0002g0015 a0008c0012t0002g0015 a0001c0003t0002g0015 a0008c0012t0002g0015	3	426	0.0070	19	c.343 others(34): Show c.343+489_343+490insAAAAAAAAAAAAAAAAAAA	SLC16A13	ENSG00000174327.7	transcript	ENST00000308027.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC16A6_chr17_68262026_68296127	68282779	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01257.hp2 others(24): Show HG00738.hp2 HG01123.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG01952.hp1 HG01993.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03942.hp1 NA18952.hp1 NA18974.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0004c0004 a0005c0005	a0001c0001t0023 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0001t0023 a0002c0002t0001 a0002c0002t0003 a0002c0008t0006 a0004c0004t0001 a0005c0005t0012	a0001c0001t0023g0100 a0002c0002t0001g0073 a0002c0002t0003g0005 others(13): Show a0001c0001t0023g0100 a0002c0002t0001g0073 a0002c0002t0003g0005 a0002c0002t0003g0012 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0079 a0002c0002t0003g0093 a0002c0008t0006g0080 a0004c0004t0001g0086 a0005c0005t0012g0074	27	408	0.0662	19	c.-7- others(34): Show c.-7-4471_-7-4453dupTTTTTTTTTTTTTTTTTTT	SLC16A6	ENSG00000108932.13	transcript	ENST00000580666.6	protein_coding	1/5			chr17	TogoVar
SLC16A9_chr10_59645764_59714850	59653425	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp2 HG01515.hp2 others(3): Show HG00280.hp1 HG01071.hp2 HG01515.hp2 HG02615.hp2 HG03704.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0093 a0001c0001t0003g0107 a0001c0001t0003g0113 others(3): Show a0001c0001t0003g0093 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0121 a0001c0001t0003g0311 a0001c0001t0041g0111	6	352	0.0171	19	c.135 others(36): Show c.1351+231_1351+249dupTTTTTTTTTTTTTTTTTTT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	5/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59678546	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02257.hp1 HG02257.hp2 others(2): Show HG00735.hp2 HG02257.hp1 HG02257.hp2 NA18956.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026	a0001c0001t0003g0073 a0001c0001t0003g0080 a0001c0001t0018g0065 others(2): Show a0001c0001t0003g0073 a0001c0001t0003g0080 a0001c0001t0018g0065 a0001c0001t0023g0277 a0001c0001t0026g0320	5	352	0.0142	19	c.196 others(36): Show c.196+5549_196+5550insAAAAAAAAAAAAAAAAAAA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59681835	A A	ATATGATG others(12): Show ATATGATGTATATGTATATG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	352	0.0028	19	c.196 others(36): Show c.196+2242_196+2260dupCATATACATATACATCATA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC18B1_chr6_132764370_132803637	132792228	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	304	0.0033	19	c.184 others(36): Show c.184-1975_184-1957dupCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	304	0.0033	19	c.184 others(36): Show c.184-2020_184-2019insTTTCTTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC1A3_chr5_36601606_36693334	36636045	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG00544.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0173 a0001c0001t0001g0150 a0001c0001t0001g0173	2	380	0.0053	19	c.319 others(36): Show c.319+6458_319+6459insGTGTGTGTGTGTGTGTGTG	SLC1A3	ENSG00000079215.15	transcript	ENST00000265113.9	protein_coding	3/9			chr5	TogoVar
SLC1A4_chr2_64984399_65028865	65002280	A A	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0222 a0002c0005t0006g0222	1	394	0.0025	19	c.570 others(34): Show c.570+792_570+793insTAAATAAATAAATAAATAA	SLC1A4	ENSG00000115902.11	transcript	ENST00000234256.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC1A4_chr2_64984399_65028865	65002570	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01516.hp1 HG01517.hp1 others(9): Show HG00544.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG02300.hp2 NA18612.hp2 NA18941.hp2 NA19006.hp2 NA19068.hp1 NA19076.hp1 NA19079.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0008 a0002c0003t0002	a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0165 others(8): Show a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0002g0145 a0001c0001t0002g0192 a0001c0004t0008g0015 a0002c0003t0002g0136 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0256	12	394	0.0305	19	c.570 others(36): Show c.570+1087_570+1105dupTTTTTTTTTTTTTTTTTTT	SLC1A4	ENSG00000115902.11	transcript	ENST00000234256.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC1A7_chr1_53082183_53147638	53137287	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01123.hp2 others(10): Show HG00642.hp2 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG02083.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG03540.hp2 NA18966.hp1 NA19000.hp2 NA19057.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0013	a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 others(4): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0020 a0001c0003t0006 a0002c0001t0001 a0003c0013t0001	a0001c0002t0002g0326 a0001c0002t0005g0327 a0001c0002t0012g0328 others(9): Show a0001c0002t0002g0326 a0001c0002t0005g0327 a0001c0002t0012g0328 a0001c0002t0020g0167 a0001c0003t0006g0329 a0002c0001t0001g0025 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0330 a0002c0001t0001g0332 a0003c0013t0001g0331	13	400	0.0325	19	c.136 others(36): Show c.136-2859_136-2858insTTTTTTTTTTTTTTTTTTT	SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	1/10			chr1	TogoVar
SLC20A2_chr8_42411475_42506231	42464092	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19065.hp1 NA19065.hp2 HG00642.hp1 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0139 a0001c0001t0001g0178 a0001c0001t0001g0052 a0001c0001t0001g0139 a0001c0001t0001g0178	3	238	0.0126	19	c.431 others(36): Show c.431-1021_431-1003dupAAAAAAAAAAAAAAAAAAA	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	3/10			chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42504852	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0001g0119 a0001c0001t0001g0151	2	238	0.0084	19	c.-41 others(30): Show c.-4105_-4087dupTTTTTTTTTTTTTTTTTTT	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding		3622		chr8	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGTGCG others(12): Show TGTGTGCGTGTGCGCTCGCA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	406	0.0025	19	c.116 others(34): Show c.1164-41_1164-40insTGTGCGTGTGCGCTCGCAG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A23_chr6_3263973_3462050	3279509	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0104 a0001c0003t0006g0104	1	222	0.0045	19	c.170 others(38): Show c.1703+4324_1703+4342dupTTTTTTTTTTTTTTTTTTT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	9/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3362404	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01981.hp1 NA18993.hp2 HG01255.hp2 HG01981.hp1 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0108 a0001c0002t0002g0169 a0001c0002t0008g0121 a0001c0002t0002g0108 a0001c0002t0002g0169 a0001c0002t0008g0121	3	222	0.0135	19	c.914 others(38): Show c.914-38403_914-38402insTTTTTTTTTTTTTTTTTTT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A25_chr11_63153437_63248599	63194890	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0134 a0002c0002t0008g0134	1	344	0.0029	19	c.831 others(38): Show c.831-11092_831-11074dupTTTTTTTTTTTTTTTTTTT	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	7/11			chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63410257	A A	AAAAAAAA others(12): Show AAAAAAAAAAAGAAGGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG02970.hp1 HG03239.hp1 HG01361.hp1 HG02970.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0055 a0001c0001t0070 a0001c0001t0043 a0001c0001t0055 a0001c0001t0070	a0001c0001t0043g0265 a0001c0001t0055g0198 a0001c0001t0070g0035 a0001c0001t0043g0265 a0001c0001t0055g0198 a0001c0001t0070g0035	3	346	0.0087	19	c.39 others(28): Show c.398_*399insAAAAAAAGAAGGAAAGAAA	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	10/10	399	INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63410257	A A	AAAAAAAA others(12): Show AAAAAAAAGAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0043 a0001c0001t0072g0043	1	346	0.0029	19	c.39 others(28): Show c.398_*399insAAAAGAAGAAAGAAAGAAA	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	10/10	399	INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63410257	A A	AAAAAAAG others(12): Show AAAAAAAGAAGGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp2 NA18962.hp2 HG02683.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0117 a0001c0001t0036g0001 a0001c0001t0036g0117	2	346	0.0058	19	c.39 others(28): Show c.398_*399insAAAGAAGGAAAGAAAGAAA	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	10/10	399	INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A1_chr15_65616938_65661260	65651338	T T	TGACCAGA others(12): Show TGACCAGAAAGGAATGGTAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	324	0.0031	19	c.279 others(36): Show c.2794-331_2794-313dupGACCAGAAAGGAATGGTAC	SLC24A1	ENSG00000074621.14	transcript	ENST00000261892.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(12): Show TTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0120 a0001c0002t0003g0120	1	188	0.0053	19	c.931 others(38): Show c.931-14017_931-14016insGAAAAGAAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A3_chr20_19207642_19727926	19546158	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	160	0.0063	19	c.348 others(38): Show c.348+30606_348+30624dupAAAAAAAAAAAAAAAAAAA	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A4_chr14_92318165_92506481	92408202	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	282	0.0036	19	c.242 others(38): Show c.242-25710_242-25709insGTGTGTGTGTGTGTGTGTG	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	2/16			chr14	TogoVar
SLC24A4_chr14_92318165_92506481	92448380	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0207 a0001c0001t0047g0207	1	282	0.0036	19	c.738 others(34): Show c.738-694_738-693insCACACACACACACACACAC	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	9/16			chr14	TogoVar
SLC24A4_chr14_92318165_92506481	92503414	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00733.hp1 others(6): Show HG00408.hp1 HG00639.hp1 HG00733.hp1 HG01123.hp2 HG02074.hp1 HG02135.hp2 HG03490.hp2 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0012 a0001c0001t0081 others(3): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0081 a0001c0002t0004 a0001c0002t0012 a0001c0002t0059	a0001c0001t0004g0268 a0001c0001t0012g0113 a0001c0001t0012g0130 others(6): Show a0001c0001t0004g0268 a0001c0001t0012g0113 a0001c0001t0012g0130 a0001c0001t0081g0128 a0001c0002t0004g0214 a0001c0002t0004g0227 a0001c0002t0004g0269 a0001c0002t0012g0095 a0001c0002t0059g0220	9	282	0.0319	19	c.97 others(30): Show c.9786_*9787insTTTTTTTTTTTTTTTTTTT	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding		1934		chr14	TogoVar
SLC25A12_chr2_171778405_171899244	171868364	A A	AGTGCAGC others(12): Show AGTGCAGCAGCTCGATCTCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp1 HG03834.hp1 HG02683.hp1 HG03017.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0012g0028 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0012g0028	3	314	0.0096	19	c.209 others(34): Show c.209+298_209+316dupCGAGATCGAGCTGCTGCAC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A13_chr7_96115220_96327098	96168098	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	276	0.0036	19	c.131 others(38): Show c.1311+1928_1311+1946dupTTTTTTTTTTTTTTTTTTT	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC25A13_chr7_96115220_96327098	96233344	T T	TGGGGACT others(12): Show TGGGGACTTTCTAAAAATTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	276	0.0036	19	c.328 others(36): Show c.328+1439_328+1457dupCAATTTTTAGAAAGTCCCC	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	4/17			chr7	TogoVar
SLC25A16_chr10_68472998_68532523	68529580	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0245 a0001c0001t0067g0245	1	312	0.0032	19	c.-22 others(30): Show c.-2206_-2205insATATATATATATATTTTTT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2058		chr10	TogoVar
SLC25A17_chr22_40764630_40824346	40820663	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG02735.hp1 others(2): Show HG00738.hp2 HG01169.hp2 HG02735.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0218 a0001c0001t0001g0256 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0218 a0001c0001t0001g0256 a0001c0001t0002g0036 a0001c0001t0002g0048	5	326	0.0153	19	c.-14 others(30): Show c.-1416_-1415insTTTTTTTTTTTTTTTTTTT	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		1318		chr22	TogoVar

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