Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	420	0.0024	34	c.329 others(51): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42194567	G G	GCATTCTC others(27): Show GCATTCTCTAAGATAGGCAGTAGGGATCCATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0004 a0016c0034t0004	a0016c0034t0004g0027 a0016c0034t0004g0027	1	182	0.0055	34	c.48 others(45): Show c.4833_*4834insCATTCTCTAAGATAGGCAGTAGGGATCCATTTTA	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding		4681		chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0012 a0014c0018t0012	a0014c0018t0012g0047 a0014c0018t0012g0047	1	360	0.0028	34	c.293 others(47): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4600483	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0397 a0001c0001t0059g0397	1	408	0.0025	34	c.32 others(43): Show c.327_*328insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3696		chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	300	0.0033	34	c.39+ others(49): Show c.39+6751_39+6752insAAAAAAAATATATATATATATATATATATA TATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03516.hp2 NA18941.hp1 others(6): Show HG02015.hp1 HG03516.hp2 NA18941.hp1 NA18946.hp1 NA18975.hp2 NA18990.hp2 NA18994.hp1 NA19030.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026	a0001c0001t0002g0154 a0001c0001t0002g0238 a0001c0001t0005g0211 others(6): Show a0001c0001t0002g0154 a0001c0001t0002g0238 a0001c0001t0005g0211 a0001c0001t0008g0015 a0001c0001t0008g0018 a0001c0001t0013g0086 a0001c0001t0018g0072 a0001c0001t0026g0236 a0001c0001t0026g0237	9	300	0.0300	34	c.957 others(49): Show c.957+980_957+981insACACACACACACACACACACACACACACAC ACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18612.hp1 HG04184.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0075 a0001c0001t0003g0074 a0001c0001t0001g0075 a0001c0001t0003g0074	2	378	0.0053	34	c.114 others(51): Show c.114+6455_114+6488dupATATATATATATATATATATATATATAT ATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	216	0.0046	34	c.-63 others(55): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00738.hp1 others(24): Show HG00544.hp1 HG00673.hp2 HG00738.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp1 HG02622.hp2 HG02738.hp2 HG02886.hp2 HG03139.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp1 NA18954.hp2 NA18967.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA19066.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0005t0006 a0002c0003t0002 a0002c0003t0010 a0002c0004t0001 a0002c0004t0004 a0002c0004t0016 a0003c0006t0005	a0001c0001t0002g0013 a0001c0001t0002g0205 a0001c0001t0003g0041 others(24): Show a0001c0001t0002g0013 a0001c0001t0002g0205 a0001c0001t0003g0041 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0062 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0117 a0001c0005t0006g0023 a0002c0003t0002g0202 a0002c0003t0010g0199 a0002c0004t0001g0073 a0002c0004t0001g0113 a0002c0004t0001g0169 a0002c0004t0004g0083 a0002c0004t0004g0123 a0002c0004t0016g0122 a0003c0006t0005g0133 a0003c0006t0005g0136 a0003c0006t0005g0140	27	216	0.1250	34	c.-63 others(55): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646940	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03710.hp2 others(2): Show HG01168.hp1 HG01169.hp1 HG03710.hp2 HG04204.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0001 a0002c0002t0016	a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0051 a0002c0002t0001g0033 a0002c0002t0016g0038	5	128	0.0391	34	c.-38 others(45): Show c.-3859_-3858insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3378		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAAAGA others(27): Show GAAAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG01257.hp1 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0003 a0002c0006t0006 a0002c0002t0003 a0002c0006t0006	a0002c0002t0003g0030 a0002c0006t0006g0131 a0002c0002t0003g0030 a0002c0006t0006g0131	2	164	0.0122	34	c.-38 others(45): Show c.-3878_-3877insAAAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270316	T T	TATATATA others(27): Show TATATATACGTATATATATATATGTATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	326	0.0031	34	c.-80 others(43): Show c.-809_-808insATATATACGTATATATATATATGTATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		514		chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0227 a0004c0005t0008g0227	1	250	0.0040	34	c.-22 others(53): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT TTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0135 a0001c0011t0006g0135	1	250	0.0040	34	c.305 others(53): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGAGTGTG TGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp2 HG03669.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0154 a0001c0001t0025g0155 a0001c0001t0002g0154 a0001c0001t0025g0155	2	250	0.0080	34	c.305 others(53): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGAGTGTGTG TGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0250	1	250	0.0040	34	c.305 others(53): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTGTGTG TGTGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228092133	G G	GTATATAT others(27): Show GTATATATACACATATATACATATACGTATATGTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03710.hp1 HG01346.hp2 HG03710.hp1	a0003 a0003	a0003c0005 a0003c0024 a0003c0005 a0003c0024	a0003c0005t0001 a0003c0024t0001 a0003c0005t0001 a0003c0024t0001	a0003c0005t0001g0294 a0003c0024t0001g0288 a0003c0005t0001g0294 a0003c0024t0001g0288	2	322	0.0062	34	c.246 others(53): Show c.246+16698_246+16699insTACATATACGTATATGTATATATGTG TATATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	322	0.0031	34	c.139 others(51): Show c.139-4698_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01081.hp1 others(2): Show HG01069.hp1 HG01070.hp1 HG01081.hp1 HG03831.hp1 NA18946.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0002 a0004c0004 a0005c0003 others(1): Show a0002c0002 a0004c0004 a0005c0003 a0006c0007	a0002c0002t0001 a0004c0004t0003 a0005c0003t0001 others(1): Show a0002c0002t0001 a0004c0004t0003 a0005c0003t0001 a0006c0007t0001	a0002c0002t0001g0239 a0004c0004t0003g0235 a0005c0003t0001g0133 others(2): Show a0002c0002t0001g0239 a0004c0004t0003g0235 a0005c0003t0001g0133 a0006c0007t0001g0134 a0006c0007t0001g0135	5	322	0.0155	34	c.139 others(53): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02630.hp2 HG02165.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0011 a0001c0001t0005g0148 a0001c0001t0001g0011 a0001c0001t0005g0148	2	390	0.0051	34	c.-31 others(45): Show c.-3135_-3134insTATATATATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03098.hp2 HG01070.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0061 a0001c0001t0002g0064	2	176	0.0114	34	c.53- others(49): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02129.hp1 HG02735.hp1 others(6): Show HG02083.hp1 HG02129.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 NA18612.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0013 others(6): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0035	9	176	0.0511	34	c.53- others(49): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK6_chr5_148198042_148220137	148209979	T T	TGTATGTA others(27): Show TGTATGTATACATACATACGTACGTATGTACGTAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03195.hp2 NA18522.hp2 others(1): Show HG01496.hp1 HG03195.hp2 NA18522.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0119 a0002c0002t0001g0025 a0002c0002t0001g0119	4	438	0.0091	34	c.82- others(49): Show c.82-3918_82-3917insCATACGTACGTATGTACGTACGTATGTATA CATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210218	A A	ATATATAT others(27): Show ATATATATGTATGTGTTTCTGCATACATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG01074.hp2 others(18): Show HG00140.hp2 HG00558.hp2 HG01074.hp2 HG01192.hp1 HG01934.hp1 HG02056.hp2 HG02257.hp2 HG02723.hp1 HG02738.hp1 HG03239.hp2 HG03540.hp1 HG03704.hp1 NA18940.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp2 NA18987.hp2 NA18989.hp1 NA19064.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0036 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0136 a0001c0001t0001g0160 a0001c0001t0001g0169	21	438	0.0480	34	c.82- others(49): Show c.82-3689_82-3688insATATGTATGTGTTTCTGCATACATATATAT GTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12461413	T T	TATGTGTG others(27): Show TATGTGTGTGTGTGTGTATGTATGTATATACATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0264 a0001c0002t0010g0264	1	328	0.0031	34	c.163 others(53): Show c.1638+1904_1638+1937dupGTATGTATATACATACATACACACAC ACACACAT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12461440	A A	ATACATAC others(27): Show ATACATACATGTGTGTATGTATGTACATATGTACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(119): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0003t0004 a0001c0005t0001 a0002c0009t0003 a0003c0008t0003	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(119): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0263 a0001c0001t0011g0324 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0328 a0001c0001t0013g0009 a0001c0001t0013g0011 a0001c0001t0022g0197 a0001c0001t0026g0097 a0001c0001t0027g0128 a0001c0003t0004g0041 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0005t0001g0110 a0002c0009t0003g0323 a0003c0008t0003g0319	122	328	0.3720	34	c.163 others(53): Show c.1638+1877_1638+1910dupCGTACATATGTACATACATACACACA TGTATGTA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0217 a0001c0001t0011g0217	1	356	0.0028	34	c.180 others(51): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATATATA TATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03490.hp1 HG03492.hp2 others(2): Show HG02027.hp1 HG03490.hp1 HG03492.hp2 NA18954.hp1 NA19060.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0190 a0001c0001t0001g0254 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0004c0004t0001g0271	5	356	0.0140	34	c.180 others(51): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02735.hp2 HG01255.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0221 a0001c0001t0001g0006 a0001c0001t0001g0221	2	356	0.0056	34	c.180 others(51): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAACA others(27): Show AAAAAACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0331	1	356	0.0028	34	c.180 others(51): Show c.1807-513_1807-512insAAAACATATATATATATATATATATATA TATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp2 NA18747.hp2 others(1): Show HG00280.hp2 HG01168.hp2 NA18747.hp2 NA19054.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 a0001c0001t0001 a0001c0001t0004 a0004c0004t0001	a0001c0001t0001g0227 a0001c0001t0001g0303 a0001c0001t0004g0224 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0303 a0001c0001t0004g0224 a0004c0004t0001g0356	4	356	0.0112	34	c.180 others(51): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01099.hp2 others(8): Show HG00323.hp2 HG00621.hp1 HG01099.hp2 HG02055.hp2 HG02083.hp2 HG02145.hp2 HG02738.hp1 HG03486.hp1 NA18906.hp2 NA18943.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 a0001c0005t0002 a0001c0017t0002	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0156 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0156 a0001c0001t0001g0234 a0001c0001t0002g0283 a0001c0001t0003g0152 a0001c0001t0004g0352 a0001c0001t0010g0201 a0001c0002t0004g0235 a0001c0005t0002g0147 a0001c0017t0002g0045	11	404	0.0272	34	c.-40 others(45): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	260	0.0039	34	c.-12 others(45): Show c.-1200_-1199insAAAAAAAAAATATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31819829	C C	CAACTTGG others(27): Show CAACTTGGTTTCTATTTTTTATAATCGTCTTAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0019 a0019	a0019c0011 a0019c0011	a0019c0011t0001 a0019c0011t0001	a0019c0011t0001g0072 a0019c0011t0001g0072	1	260	0.0039	34	c.-39 others(45): Show c.-3909_-3908insAGCTAAGACGATTATAAAAAATAGAAACCAAGTT	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		3808		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	152	0.0066	34	c.347 others(51): Show c.347+8590_347+8591insATATATATATATATATATATATATATAT TTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166847663	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	144	0.0069	34	c.589 others(53): Show c.589+41466_589+41467insGATATATATATATATATATATATATA TATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(27): Show CATATATATACATATATATATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	144	0.0069	34	c.589 others(53): Show c.589+28327_589+28328insATACACATATATATATATATATATGT ATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(27): Show CATATATATATATATACATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	144	0.0069	34	c.589 others(53): Show c.589+28327_589+28328insATACATATATATATATATGTATATAT ATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	144	0.0069	34	c.589 others(53): Show c.589+28327_589+28328insATACATATATATATATATATATATAT ATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14160657	T T	TTATATAT others(27): Show TTATATATATATATTTACATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG00639.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0217 a0001c0002t0001g0038 a0001c0001t0003g0217 a0001c0002t0001g0038	2	224	0.0089	34	c.825 others(53): Show c.825+25100_825+25101insATTTACATATATTTATATATTTATAT ATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA18954.hp1 HG02280.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0154 a0001c0001t0014g0019 a0001c0001t0001g0154 a0001c0001t0014g0019	2	224	0.0089	34	c.69 others(45): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	320	0.0031	34	c.23+ others(51): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRY2_chr13_80330976_80346126	80335411	T T	TTAAACAG others(27): Show TTAAACAGACTGGAAAAAACACTGCCACGATCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	422	0.0024	34	c.13 others(45): Show c.1346_*1347insGCTGATCGTGGCAGTGTTTTTTCCAGTCTGTTTA	SPRY2	ENSG00000136158.12	transcript	ENST00000377104.4	protein_coding		564		chr13	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01074.hp1 HG01081.hp2 others(16): Show HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG02056.hp1 HG02155.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp1 HG02976.hp2 HG03239.hp1 HG04115.hp1 HG04199.hp1 NA18967.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0043 a0001c0001t0055 others(6): Show a0001c0001t0001 a0001c0001t0043 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0078 a0001c0001t0098 a0001c0002t0054	a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0043g0132 a0001c0001t0055g0023 a0001c0001t0056g0153 a0001c0001t0057g0159 a0001c0001t0058g0227 a0001c0001t0078g0087 a0001c0001t0098g0139 a0001c0002t0054g0105	19	231	0.0823	34	c.29 others(45): Show c.2906_*2907insATATATATATATATATATATATGTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA21309.hp1 HG02735.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0005 a0002c0006t0008 a0001c0001t0005 a0002c0006t0008	a0001c0001t0005g0028 a0002c0006t0008g0137 a0001c0001t0005g0028 a0002c0006t0008g0137	2	370	0.0054	34	c.258 others(53): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(27): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02965.hp1 HG00280.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0003 a0001c0011t0023 a0001c0003t0003 a0001c0011t0023	a0001c0003t0003g0261 a0001c0011t0023g0230 a0001c0003t0003g0261 a0001c0011t0023g0230	2	370	0.0054	34	c.-47 others(51): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03491.hp1 HG02559.hp2 HG03491.hp1	a0001 a0001	a0001c0009 a0001c0018 a0001c0009 a0001c0018	a0001c0009t0010 a0001c0018t0042 a0001c0009t0010 a0001c0018t0042	a0001c0009t0010g0088 a0001c0018t0042g0027 a0001c0009t0010g0088 a0001c0018t0042g0027	2	370	0.0054	34	c.-47 others(51): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAAAGAGAAA GAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG02886.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0048 a0001c0005t0008g0062 a0001c0005t0008g0048 a0001c0005t0008g0062	2	370	0.0054	34	c.149 others(51): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG06807.hp1 HG01361.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0039 a0001c0001 a0003c0039	a0001c0001t0005 a0003c0039t0008 a0001c0001t0005 a0003c0039t0008	a0001c0001t0005g0261 a0003c0039t0008g0070 a0001c0001t0005g0261 a0003c0039t0008g0070	2	268	0.0075	34	c.660 others(53): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(27): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01978.hp1 HG00280.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0068 a0001c0001t0001g0089	2	246	0.0081	34	c.130 others(53): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)