Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Examples: 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
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18978.hp2 HG03471.hp2 NA18978.hp2	a0002 a0025 a0002 a0025	a0002c0002 a0025c0041 a0002c0002 a0025c0041	a0002c0002t0001 a0025c0041t0013 a0002c0002t0001 a0025c0041t0013	a0002c0002t0001g0084 a0025c0041t0013g0097 a0002c0002t0001g0084 a0025c0041t0013g0097	2	218	0.0092	52	c.324 others(71): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50795132	A A	ATATATGA others(45): Show ATATATGATATATATATCATATATTATATATATATGATATATATATCATA TAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0061 a0001c0001t0042g0061	1	175	0.0057	52	c.117 others(71): Show c.117+18769_117+18770insATATATGATATATATATCATATATAT ATAATATATGATATATATATCATATA	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIAH3_chr13_45772242_45856753	45826369	A A	ATGGTTGG others(45): Show ATGGTTGGGTAGGTGGATGGATGGATGGATGGTTGGATGGATGGATGGGT GAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02040.hp2 HG03710.hp1 HG01167.hp2 HG02040.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0321 a0001c0001t0005g0083 a0001c0001t0010g0320 a0001c0001t0001g0321 a0001c0001t0005g0083 a0001c0001t0010g0320	3	364	0.0082	52	c.135 others(71): Show c.135+25125_135+25126insCTCACCCATCCATCCATCCAACCATC CATCCATCCATCCACCTACCCAACCA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	402837	A A	ACCCCGGG others(45): Show ACCCCGGGACCCCGCTCACCCCGACCCCCGCTCACACCCGGACCCCGCTC ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	242	0.0041	52	c.30 others(63): Show c.3058_*3059insGGTGAGCGGGGTCCGGGTGTGAGCGGGGGTCGGG GTGAGCGGGGTCCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2878		chr11	TogoVar
SIGIRR_chr11_400716_419999	402843	G G	GGGACCCG others(45): Show GGGACCCGCTCACCCCGACCCCGCTCACCCCCGGACCCCCCGCTCACCCC CGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	242	0.0041	52	c.30 others(63): Show c.3052_*3053insGCGGGGGTGAGCGGGGGGTCCGGGGGTGAGCGGG GTCGGGGTGAGCGGGTCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2872		chr11	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(45): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	198	0.0051	52	c.316 others(69): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATACATATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03139.hp1 NA19009.hp1 others(3): Show HG01978.hp1 HG03139.hp1 NA19009.hp1 NA19060.hp2 NA19074.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0005 a0002c0003t0007 others(1): Show a0001c0001t0001 a0001c0002t0005 a0002c0003t0007 a0002c0003t0009	a0001c0001t0001g0333 a0001c0002t0005g0312 a0002c0003t0007g0325 others(3): Show a0001c0001t0001g0333 a0001c0002t0005g0312 a0002c0003t0007g0325 a0002c0003t0007g0326 a0002c0003t0007g0336 a0002c0003t0009g0318	6	366	0.0164	52	c.274 others(71): Show c.274-63183_274-63182insGTGTGTATATATATATATATGTATAT ATATATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305590	G G	GCCCCCCG others(45): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp2 HG02258.hp1 others(9): Show HG01175.hp2 HG01952.hp2 HG02258.hp1 HG02630.hp2 HG02738.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0116 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173	12	360	0.0333	52	c.173 others(71): Show c.1735-8098_1735-8097insCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCAGCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306178	T T	TGCCCGGC others(45): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01192.hp1 HG02738.hp2 others(2): Show HG00544.hp1 HG01192.hp1 HG02738.hp2 HG03831.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0120 a0001c0001t0001g0270 a0002c0002t0002g0324	5	360	0.0139	52	c.173 others(71): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306178	T T	TGCCCGGC others(45): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19006.hp2 HG01109.hp1 NA19006.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0001 a0012c0011t0001 a0001c0001t0001 a0012c0011t0001	a0001c0001t0001g0110 a0012c0011t0001g0021 a0001c0001t0001g0110 a0012c0011t0001g0021	2	360	0.0056	52	c.173 others(71): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306199	C C	CGGGAGGG others(45): Show CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCTCAG TCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0312 a0002c0002t0002g0312	1	360	0.0028	52	c.173 others(71): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCTCAGTCTGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIPA1L1_chr14_71315476_71746209	71611486	C C	CTGCATCT others(45): Show CTGCATCTATCAACCTGTCATCTAGGTTTTAAGCCCCATATGCATTAGAT ATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02976.hp2 others(4): Show HG01884.hp2 HG02622.hp1 HG02976.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150	7	174	0.0402	52	c.149 others(71): Show c.1499-7268_1499-7217dupCATCTATCAACCTGTCATCTAGGTTT TAAGCCCCATATGCATTAGATATTTG	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	292	0.0034	52	c.46+ others(69): Show c.46+16551_46+16552insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp1 HG01952.hp1 HG02004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0217 a0001c0005t0001g0218	2	292	0.0069	52	c.46+ others(69): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0224 a0001c0005t0002g0224	1	292	0.0034	52	c.46+ others(69): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	360	0.0028	52	c.47 others(63): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(45): Show TACATACACACACACACACACACACACACACACACACACACACACACACA CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	360	0.0028	52	c.47 others(63): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A5_chr8_81688631_81700058	81688664	A A	AAAAGAAA others(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	426	0.0024	52	c.49 others(63): Show c.4991_*4992insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	SLC10A5	ENSG00000253598.3	transcript	ENST00000518568.3	protein_coding		4966		chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02071.hp2 HG02165.hp2 others(1): Show HG01891.hp1 HG02071.hp2 HG02165.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0191 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	4	350	0.0114	52	c.377 others(69): Show c.377+5901_377+5952dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A6_chr15_34224784_34342781	34310781	T T	TGTGTGTG others(45): Show TGTGTGTGTTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCT CAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02630.hp1 others(4): Show HG02055.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02970.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 others(4): Show a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0062	7	274	0.0256	52	c.271 others(71): Show c.271+25628_271+25629insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACAACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070822	C C	CAGCCCCA others(45): Show CAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0079 a0001c0006t0011g0079	1	118	0.0085	52	c.224 others(71): Show c.2241+2810_2241+2811insCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070989	C C	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	52	c.224 others(71): Show c.2241+2643_2241+2644insCACTGGGGGCTGCATAAGTGTGATAC CGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071196	G G	GCCCCAGT others(45): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0025 a0001c0010t0005g0025	1	118	0.0085	52	c.224 others(71): Show c.2241+2436_2241+2437insGCTCACTGGGGCTGCATAAGTGTGAT GCCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071327	C C	CAGCCCCA others(45): Show CAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0037	1	118	0.0085	52	c.224 others(71): Show c.2241+2305_2241+2306insCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071573	C C	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	52	c.224 others(71): Show c.2241+2059_2241+2060insCACTGGGGGCTGCATAAGTGTGATAC CGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071618	C C	CCCCCAGT others(45): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0024	1	118	0.0085	52	c.224 others(71): Show c.2241+2014_2241+2015insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071657	C C	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	118	0.0085	52	c.224 others(71): Show c.2241+1975_2241+1976insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071701	G G	GCCCCAGT others(45): Show GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG AGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	118	0.0085	52	c.224 others(71): Show c.2241+1931_2241+1932insGCTCACTGGGGGCTGCATAAGTGTGA TGCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071824	C C	CCCCCAGT others(45): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0011g0078 a0001c0006t0011g0079	2	118	0.0170	52	c.224 others(71): Show c.2241+1808_2241+1809insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071847	G G	GGGCATCA others(45): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	52	c.224 others(71): Show c.2241+1785_2241+1786insGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072179	C C	CCCCCAGT others(45): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	118	0.0085	52	c.224 others(71): Show c.2241+1453_2241+1454insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072700	C C	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	118	0.0085	52	c.224 others(69): Show c.2241+932_2241+933insCACTGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072891	C C	CCCCCAGT others(45): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	118	0.0085	52	c.224 others(69): Show c.2241+741_2241+742insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073025	C C	CAGCCCCC others(45): Show CAGCCCCCAGTGAGCCCCCAGCACACAGGCATCACACTTATGCAGCCCCA GTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0107 a0001c0028t0002g0107	1	118	0.0085	52	c.224 others(69): Show c.2241+607_2241+608insCACTGGGGCTGCATAAGTGTGATGCCTG TGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1095021	G G	GGCCGGTA others(45): Show GGCCGGTAGGAGGCGGGGGGGCGGTAGGAGGCGGGGGCGGTAGGAGGCGG GGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02895.hp1 HG00733.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0011 a0001c0001t0001 a0001c0006t0011	a0001c0001t0001g0094 a0001c0006t0011g0078 a0001c0001t0001g0094 a0001c0006t0011g0078	2	118	0.0170	52	c.125 others(67): Show c.125-774_125-773insGCCCCGCCTCCTACCGCCCCCGCCTCCTAC CGCCCCCCCGCCTCCTACCGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(45): Show ATATATACATATATATATATATATATATATATACATATATATATATATAT ATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp2 HG02080.hp2 others(4): Show HG00673.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp1 NA18747.hp1 NA18984.hp1 NA19058.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0002 a0002c0001 a0004c0003 others(1): Show a0001c0002 a0002c0001 a0004c0003 a0009c0012	a0001c0002t0003 a0002c0001t0002 a0004c0003t0001 others(1): Show a0001c0002t0003 a0002c0001t0002 a0004c0003t0001 a0009c0012t0005	a0001c0002t0003g0229 a0002c0001t0002g0270 a0002c0001t0002g0271 others(2): Show a0001c0002t0003g0229 a0002c0001t0002g0270 a0002c0001t0002g0271 a0004c0003t0001g0003 a0009c0012t0005g0126	7	402	0.0174	52	c.135 others(71): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA TACATATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645622	T T	TATACATA others(45): Show TATACATATATATATATATATATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0374 a0006c0007t0003g0374	1	402	0.0025	52	c.135 others(71): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA TATATATATATATATATATATATACA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(45): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18960.hp1 NA18995.hp1 HG02165.hp1 NA18960.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0109 a0001c0001t0001g0184 a0001c0001t0001g0185	3	235	0.0128	52	c.430 others(71): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC18B1_chr6_132764370_132803637	132792225	C C	CAGAAAGA others(45): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	304	0.0033	52	c.184 others(69): Show c.184-2005_184-1954dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	304	0.0033	52	c.184 others(69): Show c.184-2009_184-2008insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	304	0.0033	52	c.184 others(69): Show c.184-2009_184-2008insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792288	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	304	0.0033	52	c.184 others(69): Show c.184-2017_184-2016insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGGAAGAAGGA AGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	304	0.0033	52	c.184 others(69): Show c.184-2020_184-2019insTCTTCCTTCTTCCTTTCTTTCTTCCTTT CTTTCTTTCTTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC22A12_chr11_64586220_64607344	64594969	A A	AGATGGAT others(45): Show AGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGATGG ATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 NA18954.hp1 others(1): Show HG00423.hp1 HG01106.hp1 NA18954.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0222	4	390	0.0103	52	c.830 others(69): Show c.830+1168_830+1219dupATGGATGGATGGATGGGTGGATGGATGG ATGGATGGATGGATGGATGGATGG	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A14_chr3_38277294_38323575	38302301	C C	CATATATA others(45): Show CATATATATTTATATATACACATATATATTTATATATATACATATATATT TAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	406	0.0025	52	c.1-3 others(65): Show c.1-3709_1-3708insCACATATATATTTATATATATACATATATATT TATATATATATTTATATATA	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(45): Show CATGGTACTGATATATATATATATATATATGGAACAGAACAGAGACCTCA GAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0015 a0003c0009t0002g0016 a0003c0009t0002g0015 a0003c0009t0002g0016	2	366	0.0055	52	c.107 others(71): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC23A3_chr2_219156465_219175029	219159540	T T	TATATATA others(45): Show TATATATATGCATATATATATATGCATATATATATATGCATATATATATA TGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03225.hp2 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0002 a0001c0001t0001g0028	2	434	0.0046	52	c.23 others(63): Show c.2368_*2369insGCATATATATATATGCATATATATATATGCATAT ATATATATGCATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1924		chr2	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(45): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0030 a0001c0002t0006g0030	1	188	0.0053	52	c.931 others(71): Show c.931-14017_931-14016insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAAAGAAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG AAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp1 HG01261.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0095 a0001c0001t0004g0068 a0001c0001t0003g0095 a0001c0001t0004g0068	2	164	0.0122	52	c.204 others(71): Show c.204-29507_204-29506insCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGG AAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0027 a0001c0002t0020g0027	1	164	0.0061	52	c.204 others(71): Show c.204-29507_204-29506insCTTCCTTCTTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar

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