Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHROOM2_chrX_9781429_9954443	9823074	C C	CCCTTCTC others(18): Show CCCTTCTCCTTCTCCTTCTCCCTTCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03492.hp1 NA18983.hp1 HG02738.hp1 HG03492.hp1 NA18983.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0002 a0003c0004t0003 a0001c0001t0001 a0002c0002t0002 a0003c0004t0003	a0001c0001t0001g0256 a0002c0002t0002g0063 a0003c0004t0003g0175 a0001c0001t0001g0256 a0002c0002t0002g0063 a0003c0004t0003g0175	3	256	0.0117	25	c.165 others(44): Show c.165+36372_165+36373insTTCTCCTTCTCCCTTCTCCTTCTCC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0196 a0001c0001t0001g0023 a0001c0001t0001g0196	2	256	0.0078	25	c.317 others(42): Show c.317+1283_317+1307dupAAAAAAAAAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76608531	A A	ATAGCATA others(18): Show ATAGCATAGCATAGCATAGCATAGCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0059 a0001c0015t0009g0059	1	218	0.0046	25	c.323 others(44): Show c.323+52792_323+52793insGTAGCATAGCATAGCATAGCATAGC	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	218	0.0046	25	c.588 others(42): Show c.588-2892_588-2891insAAATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	218	0.0046	25	c.588 others(42): Show c.588-2892_588-2891insATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIAH3_chr13_45772242_45856753	45822520	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	364	0.0028	25	c.135 others(44): Show c.135+28974_135+28975insATATATATATATATATATATATATA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	402658	C C	CCGCCCCC others(18): Show CCGCCCCCGCTCACCCCTGCCCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	242	0.0041	25	c.32 others(36): Show c.3237_*3238insAGCGGGGCAGGGGTGAGCGGGGGCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3057		chr11	TogoVar
SIGIRR_chr11_400716_419999	402659	G G	GCCCCGCT others(18): Show GCCCCGCTCACCCCCTGCCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	242	0.0041	25	c.32 others(36): Show c.3236_*3237insGAGCGGGGGCAGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3056		chr11	TogoVar
SIGIRR_chr11_400716_419999	402661	C C	CCCGCTCA others(18): Show CCCGCTCACCCCCTGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	242	0.0041	25	c.32 others(36): Show c.3234_*3235insTGTGAGCGGGGCAGGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3054		chr11	TogoVar
SIK1_chr21_43409483_43432131	43410320	T T	TCTCCTTC others(18): Show TCTCCTTCCCTCCCTCCTCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG03195.hp2 HG02451.hp1 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0004 a0001c0001t0001g0008	3	32	0.0938	25	c.64 others(36): Show c.6421_*6422insGAGGAGAGAGGAGGGAGGGAAGGAG	SIK1	ENSG00000142178.9	transcript	ENST00000270162.8	protein_coding		4162		chr21	TogoVar
SIK2_chr11_111597449_111735855	111628453	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	198	0.0051	25	c.316 others(42): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTC	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14			chr11	TogoVar
SIK2_chr11_111597449_111735855	111692350	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0176	1	198	0.0051	25	c.478 others(42): Show c.478+4202_478+4226dupAAAAAAAAAAAAAAAAAAAAAAAAA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01257.hp2 HG02280.hp2 others(2): Show HG01081.hp2 HG01257.hp2 HG02280.hp2 HG02970.hp1 NA18612.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0007 a0004c0006t0008 a0002c0003t0007 a0004c0006t0008	a0002c0003t0007g0328 a0002c0003t0007g0358 a0004c0006t0008g0344 others(2): Show a0002c0003t0007g0328 a0002c0003t0007g0358 a0004c0006t0008g0344 a0004c0006t0008g0347 a0004c0006t0008g0349	5	366	0.0137	25	c.30 others(36): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116844584	A A	ATATATAT others(18): Show ATATATATATAATTTTATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0196 a0001c0001t0020g0196	1	366	0.0027	25	c.10 others(36): Show c.1058_*1059insATATATATATAAAATTATATATATA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	25/25	1811		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(18): Show GAAGGAAAAGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18522.hp2 HG02896.hp1 HG02897.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0011g0036 a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0011g0036	3	366	0.0082	25	c.616 others(42): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCTTTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01081.hp2 others(17): Show HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01175.hp2 HG02027.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03704.hp1 HG04199.hp1 NA18965.hp1 NA18968.hp2 NA18983.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0016	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0006 a0009c0024 a0016c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0002c0003t0001 a0002c0003t0008 a0003c0005t0005 a0004c0006t0008 a0009c0024t0002 a0016c0015t0002	a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0242 others(17): Show a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0242 a0001c0001t0002g0073 a0001c0001t0002g0104 a0001c0001t0002g0127 a0001c0001t0004g0107 a0001c0001t0004g0128 a0001c0001t0004g0140 a0001c0001t0004g0146 a0001c0002t0003g0004 a0001c0002t0003g0005 a0002c0003t0001g0338 a0002c0003t0001g0341 a0002c0003t0008g0353 a0003c0005t0005g0018 a0003c0005t0005g0020 a0004c0006t0008g0347 a0009c0024t0002g0067 a0016c0015t0002g0106	20	366	0.0546	25	c.616 others(42): Show c.616+9367_616+9391dupTCCTTTCCTTTCCTTTCCTTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938368	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAAGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp1 HG01258.hp2 others(3): Show HG00280.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0155 a0002c0004t0006g0158 a0002c0004t0006g0159 others(3): Show a0002c0004t0006g0155 a0002c0004t0006g0158 a0002c0004t0006g0159 a0002c0004t0006g0160 a0002c0004t0006g0161 a0002c0004t0006g0162	6	366	0.0164	25	c.455 others(44): Show c.455-10989_455-10988insTCCTCTCCTCTCTTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAAGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG04228.hp1 NA18956.hp1 others(1): Show HG00597.hp1 HG04228.hp1 NA18956.hp1 NA19062.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0152 a0002c0004t0006g0364 a0002c0004t0006g0365 others(1): Show a0002c0004t0006g0152 a0002c0004t0006g0364 a0002c0004t0006g0365 a0002c0004t0006g0366	4	366	0.0109	25	c.455 others(44): Show c.455-10994_455-10993insTCCTCTCCTCTCTTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01978.hp1 HG01981.hp2 others(13): Show HG00735.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02717.hp1 HG03041.hp1 HG03139.hp2 HG03654.hp2 HG03942.hp2 HG04115.hp2 NA18943.hp1 NA18950.hp2 NA19005.hp2 NA19009.hp1 NA19060.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0003 a0014c0019 a0001c0001 a0002c0003 a0014c0019	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0002c0003t0007 a0002c0003t0009 a0014c0019t0007	a0001c0001t0001g0333 a0001c0001t0001g0360 a0001c0001t0004g0313 others(13): Show a0001c0001t0001g0333 a0001c0001t0001g0360 a0001c0001t0004g0313 a0002c0003t0001g0341 a0002c0003t0007g0310 a0002c0003t0007g0311 a0002c0003t0007g0320 a0002c0003t0007g0325 a0002c0003t0007g0326 a0002c0003t0007g0327 a0002c0003t0007g0329 a0002c0003t0007g0335 a0002c0003t0007g0352 a0002c0003t0007g0354 a0002c0003t0009g0321 a0014c0019t0007g0317	16	366	0.0437	25	c.455 others(44): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938378	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG02683.hp2 others(6): Show HG01074.hp1 HG02615.hp1 HG02683.hp2 HG02818.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0001c0002t0015 a0002c0003t0009 a0001c0002t0005 a0001c0002t0015 a0002c0003t0009	a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 others(6): Show a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0167 a0001c0002t0015g0033 a0002c0003t0009g0323	9	366	0.0246	25	c.455 others(44): Show c.455-10999_455-10998insTCCTCTCCTCTCCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	366	0.0027	25	c.274 others(44): Show c.274-64889_274-64865dupTTTTTTTTTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIM2_chr21_36694115_36754917	36707970	C C	CCGCAGTT others(18): Show CCGCAGTTCCTGGGGTGGGGAGCGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	410	0.0024	25	c.176 others(42): Show c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGAC	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIM2_chr21_36694115_36754917	36707970	C C	CCGCAGTT others(18): Show CCGCAGTTCCTGGGGTGGGGAGCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0001c0021 a0002c0003 a0002c0013 a0002c0019 a0002c0020 a0003c0005 a0003c0023 a0004c0006 a0004c0022 a0005c0009 a0006c0011 a0007c0017 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0002t0023 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0033 a0001c0002t0046 a0001c0002t0047 a0001c0004t0002 a0001c0004t0015 a0001c0004t0034 a0001c0004t0035 a0001c0007t0001 a0001c0007t0003 a0001c0007t0012 a0001c0007t0013 a0001c0008t0013 a0001c0010t0001 a0001c0012t0004 a0001c0014t0002 a0001c0018t0040 a0001c0021t0005 a0002c0003t0003 a0002c0003t0007 a0002c0003t0014 a0002c0013t0003 a0002c0019t0019 a0002c0020t0003 a0003c0005t0011 a0003c0005t0012 a0003c0023t0011 a0004c0006t0004 a0004c0006t0008 a0004c0022t0021 a0005c0009t0007 a0006c0011t0006 a0007c0017t0002 a0008c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(291): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0350 a0001c0001t0001g0357 a0001c0001t0001g0379 a0001c0001t0002g0117 a0001c0001t0002g0210 a0001c0001t0003g0093 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0004g0002 a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0004g0035 a0001c0001t0004g0047 a0001c0001t0004g0065 a0001c0001t0004g0074 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0004g0275 a0001c0001t0004g0279 a0001c0001t0004g0297 a0001c0001t0004g0312 a0001c0001t0004g0325 a0001c0001t0004g0392 a0001c0001t0005g0016 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0154 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0191 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0360 a0001c0001t0007g0011 a0001c0001t0007g0329 a0001c0001t0007g0331 a0001c0001t0007g0332 a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0342 a0001c0001t0007g0355 a0001c0001t0007g0365 a0001c0001t0008g0162 a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0008g0179 a0001c0001t0008g0181 a0001c0001t0008g0193 a0001c0001t0009g0203 a0001c0001t0009g0230 a0001c0001t0009g0372 a0001c0001t0009g0388 a0001c0001t0009g0389 a0001c0001t0009g0391 a0001c0001t0011g0204 a0001c0001t0012g0113 a0001c0001t0012g0327 a0001c0001t0013g0328 a0001c0001t0018g0020 a0001c0001t0018g0198 a0001c0001t0024g0364 a0001c0001t0028g0390 a0001c0001t0036g0001 a0001c0001t0037g0354 a0001c0001t0038g0133 a0001c0001t0041g0054 a0001c0001t0045g0344 a0001c0001t0048g0361 a0001c0001t0049g0362 a0001c0001t0050g0166 a0001c0001t0051g0167 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0002g0095 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0107 a0001c0002t0002g0139 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0255 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0298 a0001c0002t0002g0304 a0001c0002t0002g0349 a0001c0002t0002g0366 a0001c0002t0002g0373 a0001c0002t0002g0374 a0001c0002t0002g0376 a0001c0002t0002g0377 a0001c0002t0002g0382 a0001c0002t0002g0385 a0001c0002t0006g0006 a0001c0002t0006g0015 a0001c0002t0006g0163 a0001c0002t0006g0164 a0001c0002t0006g0192 a0001c0002t0010g0009 a0001c0002t0010g0014 a0001c0002t0010g0071 a0001c0002t0010g0319 a0001c0002t0015g0351 a0001c0002t0016g0096 a0001c0002t0017g0345 a0001c0002t0020g0150 a0001c0002t0020g0283 a0001c0002t0023g0165 a0001c0002t0029g0140 a0001c0002t0030g0227 a0001c0002t0032g0019 a0001c0002t0033g0034 a0001c0002t0046g0333 a0001c0002t0047g0120 a0001c0004t0002g0012 a0001c0004t0002g0052 a0001c0004t0002g0053 a0001c0004t0002g0228 a0001c0004t0002g0323 a0001c0004t0002g0367 a0001c0004t0002g0395 a0001c0004t0015g0346 a0001c0004t0015g0347 a0001c0004t0034g0050 a0001c0004t0035g0370 a0001c0007t0001g0369 a0001c0007t0003g0024 a0001c0007t0012g0393 a0001c0007t0013g0381 a0001c0008t0013g0383 a0001c0008t0013g0384 a0001c0010t0001g0151 a0001c0010t0001g0152 a0001c0012t0004g0270 a0001c0014t0002g0378 a0001c0018t0040g0146 a0001c0021t0005g0358 a0002c0003t0003g0028 a0002c0003t0003g0032 a0002c0003t0003g0038 a0002c0003t0003g0041 a0002c0003t0003g0048 a0002c0003t0003g0051 a0002c0003t0003g0064 a0002c0003t0003g0068 a0002c0003t0003g0085 a0002c0003t0003g0119 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0274 a0002c0003t0003g0276 a0002c0003t0003g0278 a0002c0003t0003g0281 a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0303 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0317 a0002c0003t0003g0356 a0002c0003t0007g0343 a0002c0003t0014g0341 a0002c0003t0014g0352 a0002c0003t0014g0353 a0002c0013t0003g0017 a0002c0019t0019g0182 a0002c0020t0003g0305 a0003c0005t0011g0090 a0003c0005t0011g0149 a0003c0005t0012g0394 a0003c0023t0011g0368 a0004c0006t0004g0013 a0004c0006t0004g0387 a0004c0006t0008g0359 a0004c0022t0021g0063 a0005c0009t0007g0336 a0005c0009t0007g0338 a0005c0009t0007g0339 a0006c0011t0006g0176 a0006c0011t0006g0177 a0007c0017t0002g0293 a0008c0015t0001g0268	306	410	0.7463	25	c.176 others(42): Show c.176-1197_176-1196insGCAGTTCCTGGGGTGGGGAGCGGGC	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01891.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0006 a0001c0001t0004 a0001c0002t0006	a0001c0001t0004g0297 a0001c0001t0004g0325 a0001c0002t0006g0007 a0001c0001t0004g0297 a0001c0001t0004g0325 a0001c0002t0006g0007	4	410	0.0098	25	c.851 others(42): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIM2_chr21_36694115_36754917	36750577	G G	GGATACTT others(18): Show GGATACTTGTATAAAAGTCGTCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0052 a0001c0012t0052	a0001c0012t0052g0288 a0001c0012t0052g0288	1	410	0.0024	25	c.24 others(36): Show c.2485_*2486insGATACTTGTATAAAAGTCGTCCAAT	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding		661		chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71542373	G G	GCTGCTGC others(18): Show GCTGCTGCTGCTGCTGCTGCTTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00438.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0080 a0001c0001t0001g0093	2	174	0.0115	25	c.-30 others(46): Show c.-303+13017_-303+13018insGCTGCTTCTTCCTGCTGCTGCTGC T	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	174	0.0058	25	c.31 others(36): Show c.3192_*3193insAAAAAAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232541247	T T	TAACATTA others(18): Show TAACATTAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0102 a0001c0030t0001g0102	1	292	0.0034	25	c.-26 others(46): Show c.-269-25640_-269-25639insTGTTATGTTATGTTATGTTAATGT T	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232541247	T T	TTAACATA others(18): Show TTAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0130 a0003c0013t0001g0130	1	292	0.0034	25	c.-26 others(46): Show c.-269-25664_-269-25640dupTGTTATGTTATGTTATGTTATGTT A	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02280.hp1 HG02280.hp2 others(2): Show HG02132.hp1 HG02280.hp1 HG02280.hp2 NA18948.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0015	a0001c0001t0002 a0001c0001t0004 a0001c0004t0003 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0003 a0002c0002t0015 a0002c0015t0004	a0001c0001t0002g0099 a0001c0001t0004g0036 a0001c0004t0003g0100 others(2): Show a0001c0001t0002g0099 a0001c0001t0004g0036 a0001c0004t0003g0100 a0002c0002t0015g0117 a0002c0015t0004g0076	5	164	0.0305	25	c.-37 others(46): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA A	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT3_chr11_210030_241342	234403	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG01891.hp1 HG03225.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0227 a0004c0004t0003g0228 a0004c0004t0003g0227 a0004c0004t0003g0228	2	414	0.0048	25	c.282 others(40): Show c.282-894_282-870dupCAAAACAAAACAAAACAAAACAAAA	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	1/6			chr11	TogoVar
SKA3_chr13_21148595_21181552	21160414	A A	AACAAGAG others(18): Show AACAAGAGAGACCCATGCATATATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp1 HG02451.hp2 others(4): Show HG00639.hp2 HG02258.hp1 HG02451.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0045 a0001c0001t0003g0097 others(2): Show a0001c0001t0003g0037 a0001c0001t0003g0045 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0101	7	378	0.0185	25	c.830 others(40): Show c.830-452_830-428dupCTATATATGCATGGGTCTCTCTTGT	SKA3	ENSG00000165480.16	transcript	ENST00000314759.6	protein_coding	5/8			chr13	TogoVar
SKAP1_chr17_48128442_48435214	48204973	T T	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01255.hp1 others(23): Show HG00280.hp2 HG00642.hp2 HG01255.hp1 HG01255.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02559.hp2 HG03017.hp2 HG04115.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18972.hp2 NA18975.hp2 NA18984.hp1 NA18994.hp1 NA18994.hp2 NA19010.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0005t0002	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0103 others(23): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0004g0001 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0217 a0001c0005t0002g0205 a0001c0005t0002g0224	26	292	0.0890	25	c.281 others(44): Show c.281-15474_281-15473insGAAAGAAAGAAAGAAAGAAAAGAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48214930	G G	GTAAAATA others(18): Show GTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp1 others(61): Show HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02698.hp1 HG02895.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18984.hp1 NA18993.hp2 NA18998.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(61): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0002c0004t0001g0206	64	292	0.2192	25	c.281 others(44): Show c.281-25455_281-25431dupTTTTATTTTATTTTATTTTATTTTA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	292	0.0034	25	c.46+ others(42): Show c.46+16551_46+16552insATATATATATATATATTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04115.hp1 NA20300.hp1 HG01891.hp1 HG04115.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0001g0180 a0001c0001t0003g0168 a0001c0001t0001g0096 a0001c0001t0001g0180 a0001c0001t0003g0168	3	296	0.0101	25	c.796 others(42): Show c.796+7894_796+7918dupTTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26857310	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18977.hp1 NA18966.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0110 a0001c0001t0004g0031 a0001c0001t0004g0110	2	296	0.0068	25	c.68- others(40): Show c.68-2445_68-2421dupTTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0324 a0002c0002t0006g0324	1	362	0.0028	25	c.109 others(44): Show c.1098+4344_1098+4345insTTTTTTTTTTTTTTTTTTTTTTTTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SKIL_chr3_170352715_170401835	170400769	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	362	0.0028	25	c.83 others(36): Show c.8352_*8353insTTTCTTTCTTTCTTTCTTTCTTTCT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3935		chr3	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	394	0.0025	25	c.24 others(36): Show c.2463_*2464insAAATATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(18): Show ATATATATATATATATATATAATTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	354	0.0028	25	c.104 others(44): Show c.1049-4100_1049-4099insATATATATATATATATATAATTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56887798	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0005 a0002c0018t0005	a0002c0018t0005g0375 a0002c0018t0005g0375	1	420	0.0024	25	c.217 others(42): Show c.2179-126_2179-125insATATATATATATATATATATATATT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03710.hp1 HG00642.hp1 HG03710.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0005 a0002c0009t0001 a0002c0009t0005	a0002c0009t0001g0158 a0002c0009t0005g0350 a0002c0009t0001g0158 a0002c0009t0005g0350	2	420	0.0048	25	c.292 others(44): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34285713	T T	TACACACA others(18): Show TACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02647.hp2 others(1): Show HG02258.hp2 HG02572.hp1 HG02647.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0008 a0001c0005t0008g0009 a0001c0005t0008g0010 others(1): Show a0001c0005t0008g0008 a0001c0005t0008g0009 a0001c0005t0008g0010 a0001c0005t0008g0259	4	274	0.0146	25	c.272 others(44): Show c.272-10325_272-10324insTGTGTGTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TACACACA others(18): Show TACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01255.hp1 others(15): Show HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01346.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0003t0004 a0001c0003t0007 others(4): Show a0001c0001t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0027 a0001c0003t0038 a0001c0003t0039 a0001c0015t0053	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0003t0004g0037 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0051 a0001c0003t0007g0039 a0001c0003t0027g0038 a0001c0003t0027g0040 a0001c0003t0038g0059 a0001c0003t0039g0047 a0001c0015t0053g0060	18	274	0.0657	25	c.272 others(44): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TATACACA others(18): Show TATACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01243.hp1 others(17): Show HG00642.hp1 HG00741.hp1 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG02015.hp2 HG02056.hp2 HG02109.hp2 HG02486.hp2 HG02809.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp2 NA18939.hp1 NA19000.hp1 NA19005.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0004c0012	a0001c0001t0001 a0001c0001t0045 a0001c0001t0047 others(4): Show a0001c0001t0001 a0001c0001t0045 a0001c0001t0047 a0001c0001t0060 a0001c0005t0031 a0001c0008t0012 a0004c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0089 a0001c0001t0001g0092 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0045g0082 a0001c0001t0047g0155 a0001c0001t0060g0268 a0001c0005t0031g0168 a0001c0008t0012g0167 a0001c0008t0012g0170 a0004c0012t0001g0107	20	274	0.0730	25	c.272 others(44): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTGTAT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TGTATACA others(18): Show TGTATACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp2 NA18947.hp1 others(2): Show HG03041.hp2 HG03453.hp2 NA18947.hp1 NA18980.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0026 a0001c0004t0017 a0001c0004t0022 a0001c0001t0026 a0001c0004t0017 a0001c0004t0022	a0001c0001t0026g0003 a0001c0001t0026g0004 a0001c0004t0017g0071 others(2): Show a0001c0001t0026g0003 a0001c0001t0026g0004 a0001c0004t0017g0071 a0001c0004t0022g0068 a0001c0004t0022g0072	5	274	0.0183	25	c.272 others(44): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTATAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCC others(18): Show GGCCCCCCTAACCCTCTGCACGCCCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	118	0.0085	25	c.125 others(42): Show c.125-4184_125-4183insTGGGCGTGCAGAGGGTTAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46600257	G G	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0003g0061 a0001c0001t0001g0062 a0001c0001t0003g0061	2	390	0.0051	25	c.542 others(40): Show c.542-245_542-221dupTCCTTTCCTTTCCTTTCCTTTCCTT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	3/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46656018	G G	GTATATAT others(18): Show GTATATATACATATACTACAGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02055.hp1 HG02280.hp1 others(8): Show HG00741.hp1 HG02055.hp1 HG02280.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG06807.hp2 NA18522.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0023 a0002c0011 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 a0001c0004t0003 a0001c0006t0002 a0001c0023t0001 a0002c0011t0006 a0009c0021t0019	a0001c0001t0001g0033 a0001c0001t0001g0365 a0001c0001t0001g0367 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0002g0363 a0001c0003t0006g0370 a0001c0003t0006g0371 a0001c0004t0003g0368 a0001c0006t0002g0146 a0001c0023t0001g0364 a0002c0011t0006g0372 a0009c0021t0019g0369	11	390	0.0282	25	c.-46 others(36): Show c.-4622_-4598dupGTATACTGTAGTATATGTATATATA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4560		chr20	TogoVar

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