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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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
SLIT2_chr4_20246905_20625561	20472257	T T	TATATATC others(37): Show TATATATCTATATATCTATATATATAGATATATATCTATATATCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	230	0.0044	44	c.467 others(61): Show c.467+4434_467+4435insATATATCTATATATCTATATATATAGAT ATATATCTATATATCG	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATAT others(37): Show ATATATATATATCTATATATATAGAGATATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01106.hp1 others(21): Show HG00408.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01884.hp1 HG02083.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG04115.hp1 HG04228.hp2 NA18944.hp1 NA18975.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0058 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0002t0038 a0001c0002t0081 a0001c0003t0050 a0001c0003t0060 a0001c0005t0033 a0001c0012t0073	a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0058 others(21): Show a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0065 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0061 a0001c0001t0004g0207 a0001c0001t0019g0176 a0001c0001t0058g0008 a0001c0001t0061g0030 a0001c0002t0001g0092 a0001c0002t0002g0047 a0001c0002t0002g0055 a0001c0002t0007g0174 a0001c0002t0007g0175 a0001c0002t0007g0182 a0001c0002t0013g0167 a0001c0002t0038g0005 a0001c0002t0081g0048 a0001c0003t0050g0114 a0001c0003t0060g0031 a0001c0005t0033g0134 a0001c0012t0073g0201	24	230	0.1044	44	c.467 others(61): Show c.467+4562_467+4563insATATCTATATATATAGAGATATAGATAT CTATATATCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472378	A A	ATATATAT others(37): Show ATATATATATATCTATATATATAGAGATATAGATATCTATATCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	230	0.0044	44	c.467 others(61): Show c.467+4562_467+4563insATATCTATATATATAGAGATATAGATAT CTATATCTCTATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18945.hp2 NA18942.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0346 a0001c0001t0002g0307 a0001c0001t0002g0346	2	386	0.0052	44	c.299 others(63): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX1A_chr16_30188875_30202561	30190402	A A	ATATAATA others(37): Show ATATAATAATATAGTATAATATATAATATATATTATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	194	0.0052	44	c.-36 others(55): Show c.-3683_-3682insTATAATAATATAGTATAATATATAATATATATTA TAATATATAT	SLX1A	ENSG00000132207.18	transcript	ENST00000251303.11	protein_coding		3472		chr16	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0290 a0001c0001t0051g0290	1	310	0.0032	44	c.237 others(63): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36870620	C C	CCCCCCTT others(37): Show CCCCCCTTCTCCACCAGAGATACAGTCCGAGACCCCCAGTGGCTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01243.hp2 others(13): Show HG01070.hp2 HG01071.hp2 HG01243.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02922.hp2 HG03239.hp1 HG03471.hp2 HG03579.hp2 HG04204.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0033 a0001c0001t0035 a0001c0001t0044 a0001c0001t0052 a0001c0001t0060 a0001c0001t0090	a0001c0001t0001g0301 a0001c0001t0006g0325 a0001c0001t0018g0018 others(13): Show a0001c0001t0001g0301 a0001c0001t0006g0325 a0001c0001t0018g0018 a0001c0001t0020g0185 a0001c0001t0022g0156 a0001c0001t0022g0163 a0001c0001t0022g0174 a0001c0001t0022g0175 a0001c0001t0033g0338 a0001c0001t0033g0339 a0001c0001t0035g0278 a0001c0001t0035g0319 a0001c0001t0044g0337 a0001c0001t0052g0017 a0001c0001t0060g0091 a0001c0001t0090g0340	16	358	0.0447	44	c.670 others(61): Show c.670+1994_670+2037dupTAGCCACTGGGGGTCTCGGACTGTATCT CTGGTGGAGAAGGGGG	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	3/6			chr13	TogoVar
SMAGP_chr12_51239558_51275415	51248434	A A	ACACACAC others(37): Show ACACACACACACACACACTCTCACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	410	0.0024	44	c.35- others(59): Show c.35-1604_35-1603insAGAGAGAGAGAGAGAGAGAGAGTGAGAGTG TGTGTGTGTGTGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMC1A_chrX_53369149_53427654	53425515	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0095 a0001c0002t0008g0095	1	213	0.0047	44	c.-29 others(55): Show c.-2916_-2915insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		2862		chrX	TogoVar
SMC2_chr9_104089309_104146419	104121075	A A	AACACACG others(37): Show AACACACGAAAGAATGAGTGAACACACACGAAAGAATGAGTGAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show HG01891.hp2 HG02132.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18945.hp1 NA18951.hp2 NA18961.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0006 a0001c0003 a0005c0006	a0001c0003t0004 a0001c0003t0008 a0001c0003t0013 others(3): Show a0001c0003t0004 a0001c0003t0008 a0001c0003t0013 a0001c0003t0017 a0001c0003t0027 a0005c0006t0012	a0001c0003t0004g0006 a0001c0003t0004g0013 a0001c0003t0004g0022 others(18): Show a0001c0003t0004g0006 a0001c0003t0004g0013 a0001c0003t0004g0022 a0001c0003t0004g0023 a0001c0003t0004g0037 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 a0001c0003t0008g0046 a0001c0003t0008g0047 a0001c0003t0013g0048 a0001c0003t0013g0050 a0001c0003t0017g0049 a0001c0003t0027g0056 a0005c0006t0012g0038 a0005c0006t0012g0039	29	278	0.1043	44	c.213 others(61): Show c.2132+925_2132+926insATGAGTGAACACACACGAAAGAATGAGT GAACACACACGAAAGA	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17726087	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0150 a0002c0003t0001g0150	1	254	0.0039	44	c.624 others(59): Show c.624+301_624+302insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27			chr2	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCTCTCTC others(37): Show TCTCTCTCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00323.hp1 HG00735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0011 a0001c0004t0004g0021 a0001c0004t0004g0011 a0001c0004t0004g0021	2	300	0.0067	44	c.621 others(61): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGAGAGAG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0042 a0001c0001t0016g0042	1	320	0.0031	44	c.67 others(55): Show c.6765_*6766insGTGTGTATATATATATATATATATATATATATAT ATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	44	c.16 others(55): Show c.1695_*1696insTATATATATATATATATATATATATATATATATA TTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 NA19089.hp1 HG03710.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0242 a0001c0003t0002g0014 a0001c0002t0002g0242 a0001c0003t0002g0014	2	270	0.0074	44	c.-37 others(55): Show c.-3716_-3715insATATATATATATATATATATATATATATATATAT ATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMR3B_chr4_70378131_70395244	70391022	C C	CACACACA others(37): Show CACACACACACATATATACACATACATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp2 others(91): Show HG00099.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18944.hp2 NA18947.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0001 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0009g0030 a0001c0001t0010g0001	94	462	0.2035	44	c.11 others(55): Show c.1174_*1175insACACACACACATATATACACATACATATATATAT ACACATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		779		chr4	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01952.hp1 HG03041.hp2 others(1): Show HG01361.hp2 HG01952.hp1 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0034 a0001c0003t0036	a0001c0001t0005g0010 a0001c0001t0008g0052 a0001c0001t0034g0086 others(1): Show a0001c0001t0005g0010 a0001c0001t0008g0052 a0001c0001t0034g0086 a0001c0003t0036g0276	4	418	0.0096	44	c.77 others(55): Show c.7756_*7757insATATATATATATATATATATATATATATATATAT ATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063253	A A	ATATATAA others(37): Show ATATATAAGATTTATATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	264	0.0038	44	c.56- others(59): Show c.56-1417_56-1416insAATCTTATATATATATATATATATATATAT ATAAATCTTATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063255	A A	ATATATAA others(37): Show ATATATAAGATTTATATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18945.hp2 NA18954.hp1 others(3): Show NA18944.hp2 NA18945.hp2 NA18954.hp1 NA18965.hp2 NA19055.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0088 a0001c0001t0009g0031 a0001c0001t0009g0068 others(3): Show a0001c0001t0004g0088 a0001c0001t0009g0031 a0001c0001t0009g0068 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0173	6	264	0.0227	44	c.56- others(59): Show c.56-1419_56-1418insAATCTTATATATATATATATATATATATAT ATAAATCTTATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD2_chr1_214276159_214342131	214299482	T T	TATATATA others(37): Show TATATATATATATATATATATATATATACACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0277 a0001c0001t0001g0286	2	380	0.0053	44	c.174 others(61): Show c.174-5704_174-5703insTATATATATATATATATATATATATACA CATATATATATATACA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	150	0.0067	44	c.228 others(61): Show c.228+6953_228+6954insGTATATATATATATATATATATATATAT ATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SNCA_chr4_89719099_89842161	89802592	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04228.hp1 NA18994.hp2 others(3): Show HG02615.hp1 HG04228.hp1 NA18994.hp2 NA18995.hp2 NA19012.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0038 a0001c0001t0002g0026 a0001c0001t0002g0043 others(3): Show a0001c0001t0001g0038 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0006g0032	6	338	0.0178	44	c.306 others(63): Show c.306+19653_306+19654insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNIP1_chr1_37529449_37559293	37535230	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG01169.hp2 others(6): Show HG00323.hp1 HG01167.hp2 HG01169.hp2 HG02572.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0024 a0001c0001t0072 a0001c0001t0012 a0001c0001t0024 a0001c0001t0072	a0001c0001t0012g0184 a0001c0001t0012g0210 a0001c0001t0012g0211 others(6): Show a0001c0001t0012g0184 a0001c0001t0012g0210 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0012g0285 a0001c0001t0024g0156 a0001c0001t0024g0195 a0001c0001t0024g0209 a0001c0001t0072g0284	9	394	0.0228	44	c.25 others(55): Show c.2517_*2518insTATATATATATATATATATATATATATATATATA TATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2517		chr1	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TCTTTTCT others(37): Show TCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0014 a0001c0002t0014g0014	1	106	0.0094	44	c.-10 others(65): Show c.-103+26372_-103+26373insCTTTTCTTTTTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18			chr8	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	106	0.0094	44	c.-10 others(65): Show c.-103+26379_-103+26380insTCTTTTCTTTTTTTTCTTTTCTTT CTTTCTTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50660230	A A	AAAGGAAA others(37): Show AAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0011g0097 a0001c0001t0011g0099	2	106	0.0189	44	c.103 others(63): Show c.1038+1585_1038+1586insGGAAAGAAGGAAGGAAAGAAGGAAGG AAGGAAAGAAGGAAGGAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1221903	G G	GTCTCTGC others(37): Show GTCTCTGCCTATCTCTGTCTCTGTTTCTGTCTGTCTCTGTCTCTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01175.hp2 others(3): Show HG00438.hp2 HG01109.hp1 HG01175.hp2 HG02071.hp2 HG02132.hp1 HG02165.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0126 others(3): Show a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0126 a0001c0002t0001g0145 a0001c0002t0001g0170 a0002c0003t0001g0129	6	190	0.0316	44	c.719 others(63): Show c.719+12679_719+12680insCCTATCTCTGTCTCTGTTTCTGTCTG TCTCTGTCTCTATCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222041	C C	CTGTCTCT others(37): Show CTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0098 a0002c0003t0001g0098	1	190	0.0053	44	c.719 others(63): Show c.719+12812_719+12813insGTCTCTCTCTGTCTCTGTCTCTGTCT CTCTCTGTCTCTCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255863	A A	AATATATA others(37): Show AATATATATAAATATATATAAATATATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	190	0.0053	44	c.100 others(63): Show c.1006-3488_1006-3487insAATATATATATAAATATATATAAATA TATATATAAATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX10_chr7_26286862_26379383	26325304	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	390	0.0026	44	c.-23 others(63): Show c.-23-21115_-23-21114insTATATATATATATATATATATATATA TATATATATATATATATA	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX10_chr7_26286862_26379383	26325306	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18957.hp2 NA19054.hp2 others(1): Show HG02135.hp2 NA18957.hp2 NA19054.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0065 a0001c0001t0001g0315 a0001c0001t0002g0271 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0315 a0001c0001t0002g0271 a0001c0001t0020g0239	4	390	0.0103	44	c.-23 others(63): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATATATATATATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX29_chr16_11971734_12579287	12117132	T T	TGGTCAAT others(37): Show TGGTCAATACGTGCTTCAGTGCGGACGAACCATGGAAACAGGCAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0103 a0001c0003t0103	a0001c0003t0103g0079 a0001c0003t0103g0079	1	176	0.0057	44	c.140 others(63): Show c.1403-9483_1403-9440dupGTGCGGACGAACCATGGAAACAGGCA CGGTCAATACGTGCTTCA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(37): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	302	0.0033	44	c.12+ others(61): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGTTTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	302	0.0033	44	c.949 others(61): Show c.949+5616_949+5617insAAAAAAAAAATATATATATATATATATA TATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179352566	G G	GATAGAGC others(37): Show GATAGAGCTATTTGTCTCAAGTTCATCTCGGCATCCTGTACTTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(87): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02723.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0002c0003 a0002c0007 a0002c0016 a0002c0017	a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 others(20): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 a0001c0001t0059 a0001c0005t0015 a0001c0005t0029 a0001c0005t0058 a0001c0015t0050 a0002c0003t0002 a0002c0003t0013 a0002c0003t0014 a0002c0003t0027 a0002c0003t0028 a0002c0003t0029 a0002c0003t0052 a0002c0003t0053 a0002c0003t0055 a0002c0003t0056 a0002c0003t0057 a0002c0007t0020 a0002c0007t0037 a0002c0016t0002 a0002c0017t0002	a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0013g0319 others(84): Show a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0013g0319 a0001c0001t0013g0321 a0001c0001t0028g0283 a0001c0001t0059g0320 a0001c0005t0015g0130 a0001c0005t0015g0131 a0001c0005t0015g0132 a0001c0005t0015g0137 a0001c0005t0029g0035 a0001c0005t0058g0135 a0001c0015t0050g0233 a0002c0003t0002g0001 a0002c0003t0002g0003 a0002c0003t0002g0007 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0265 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0003t0002g0271 a0002c0003t0002g0273 a0002c0003t0002g0276 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0282 a0002c0003t0002g0287 a0002c0003t0002g0288 a0002c0003t0002g0289 a0002c0003t0002g0290 a0002c0003t0002g0291 a0002c0003t0002g0293 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0301 a0002c0003t0002g0302 a0002c0003t0002g0305 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0002g0322 a0002c0003t0002g0324 a0002c0003t0002g0326 a0002c0003t0002g0328 a0002c0003t0002g0329 a0002c0003t0002g0334 a0002c0003t0002g0337 a0002c0003t0002g0338 a0002c0003t0002g0339 a0002c0003t0002g0340 a0002c0003t0002g0341 a0002c0003t0002g0343 a0002c0003t0002g0348 a0002c0003t0002g0351 a0002c0003t0002g0356 a0002c0003t0002g0358 a0002c0003t0013g0286 a0002c0003t0013g0292 a0002c0003t0014g0001 a0002c0003t0014g0268 a0002c0003t0014g0299 a0002c0003t0014g0342 a0002c0003t0027g0259 a0002c0003t0027g0330 a0002c0003t0028g0003 a0002c0003t0029g0285 a0002c0003t0052g0303 a0002c0003t0053g0274 a0002c0003t0055g0281 a0002c0003t0056g0304 a0002c0003t0057g0284 a0002c0007t0020g0214 a0002c0007t0020g0234 a0002c0007t0020g0238 a0002c0007t0037g0189 a0002c0016t0002g0294 a0002c0017t0002g0003	90	382	0.2356	44	c.159 others(62): Show c.1597-1016_1597-973dupAGAGCTATTTGTCTCAAGTTCATCTCG GCATCCTGTACTTGTAT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(37): Show ATATATATATAAATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0010 a0003c0009t0010	a0003c0009t0010g0024 a0003c0009t0010g0024	1	382	0.0026	44	c.159 others(61): Show c.1597-364_1597-363insAATATATATTTATATATATAAATATATA TATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS7_chr17_38346844_38410593	38387094	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0024 a0001c0002t0015g0024	1	289	0.0035	44	c.168 others(63): Show c.1682-8214_1682-8213insTATATATATATATATATATATATATA TGTATGTATGTATGTATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389906	T T	TATATATA others(37): Show TATATATATGTACATATATATATATATGTACATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG01109.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0017 a0001c0002t0011g0018	2	289	0.0069	44	c.168 others(63): Show c.1682-5402_1682-5401insTATATATGTACATATATATATATATG TACATATATATAGAGAGA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389906	T T	TATATATA others(37): Show TATATATATGTACATATATATATATATGTACATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02572.hp1 HG02818.hp2 HG00733.hp2 HG02572.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0016 a0001c0002t0011g0019 a0001c0002t0011g0021 a0001c0002t0011g0016 a0001c0002t0011g0019 a0001c0002t0011g0021	3	289	0.0104	44	c.168 others(63): Show c.1682-5402_1682-5401insTATATATGTACATATATATATATATG TACATATATATATAGAGA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0116 a0001c0003t0002g0116	1	300	0.0033	44	c.-46 others(63): Show c.-46+23148_-46+23149insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0026 a0001c0031t0026	a0001c0031t0026g0144 a0001c0031t0026g0144	1	168	0.0060	44	c.481 others(63): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448902	C C	CCCTCTCT others(37): Show CCCTCTCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0027 a0001c0010t0027	a0001c0010t0027g0105 a0001c0010t0027g0105	1	168	0.0060	44	c.548 others(63): Show c.548+52551_548+52552insTCTTCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTTCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	105016155	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	134	0.0075	44	c.955 others(63): Show c.955-26899_955-26898insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX11_chr2_5687384_5706385	5705396	G G	GGGGAGGC others(37): Show GGGGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGGTGAAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG00741.hp1 others(34): Show HG00099.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02109.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA19007.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0028 a0001c0001t0043 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0085 a0001c0001t0109 a0001c0001t0118 a0001c0001t0194 a0001c0003t0064	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0019g0000 others(14): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0019g0000 a0001c0001t0028g0000 a0001c0001t0043g0000 a0001c0001t0063g0000 a0001c0001t0065g0000 a0001c0001t0066g0000 a0001c0001t0067g0000 a0001c0001t0068g0000 a0001c0001t0069g0000 a0001c0001t0071g0000 a0001c0001t0085g0000 a0001c0001t0109g0000 a0001c0001t0118g0000 a0001c0001t0194g0000 a0001c0003t0064g0000	37	434	0.0853	44	c.11 others(57): Show c.11349_*11350insGGGAGGCTGGGGTGAAGGAGCTGGGAGGCTGG GGTGAAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4012		chr2	TogoVar
SOX11_chr2_5687384_5706385	5705396	G G	GGGGAGGC others(37): Show GGGGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01516.hp1 HG01952.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18906.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0048 a0001c0001t0057 a0001c0001t0058 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0112 a0001c0001t0116 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0133 a0001c0001t0134 a0001c0001t0139 a0001c0001t0142 a0001c0001t0145 a0001c0001t0148 a0001c0001t0151 a0001c0001t0156 a0001c0001t0163 a0001c0001t0185 a0001c0001t0186 a0001c0001t0187 a0001c0001t0190 a0001c0001t0197 a0001c0001t0200 a0001c0002t0198 a0001c0005t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(64): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 a0001c0001t0017g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0027g0000 a0001c0001t0029g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0033g0000 a0001c0001t0039g0000 a0001c0001t0040g0000 a0001c0001t0048g0000 a0001c0001t0057g0000 a0001c0001t0058g0000 a0001c0001t0078g0000 a0001c0001t0080g0000 a0001c0001t0081g0000 a0001c0001t0082g0000 a0001c0001t0083g0000 a0001c0001t0086g0000 a0001c0001t0087g0000 a0001c0001t0088g0000 a0001c0001t0089g0000 a0001c0001t0090g0000 a0001c0001t0091g0000 a0001c0001t0092g0000 a0001c0001t0093g0000 a0001c0001t0094g0000 a0001c0001t0095g0000 a0001c0001t0097g0000 a0001c0001t0098g0000 a0001c0001t0099g0000 a0001c0001t0100g0000 a0001c0001t0101g0000 a0001c0001t0104g0000 a0001c0001t0112g0000 a0001c0001t0116g0000 a0001c0001t0120g0000 a0001c0001t0121g0000 a0001c0001t0122g0000 a0001c0001t0124g0000 a0001c0001t0128g0000 a0001c0001t0129g0000 a0001c0001t0130g0000 a0001c0001t0133g0000 a0001c0001t0134g0000 a0001c0001t0139g0000 a0001c0001t0142g0000 a0001c0001t0145g0000 a0001c0001t0148g0000 a0001c0001t0151g0000 a0001c0001t0156g0000 a0001c0001t0163g0000 a0001c0001t0185g0000 a0001c0001t0186g0000 a0001c0001t0187g0000 a0001c0001t0190g0000 a0001c0001t0197g0000 a0001c0001t0200g0000 a0001c0002t0198g0000 a0001c0005t0002g0000	149	434	0.3433	44	c.11 others(57): Show c.11349_*11350insGGGAGGCTGGGGTGAAGGAGCTGGGAGGCTGG GGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4012		chr2	TogoVar
SOX11_chr2_5687384_5706385	5705398	G G	GGAGGCTG others(37): Show GGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGGTGAAGGAGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0000 a0001c0001t0070g0000	1	434	0.0023	44	c.11 others(57): Show c.11351_*11352insGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGG TGAAGGAGCTGC	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4014		chr2	TogoVar
SOX11_chr2_5687384_5706385	5705398	G G	GGAGGCTG others(37): Show GGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGGTGGAGGAGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(108): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(52): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0032 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0096 a0001c0001t0108 a0001c0001t0113 a0001c0001t0114 a0001c0001t0123 a0001c0001t0127 a0001c0001t0132 a0001c0001t0135 a0001c0001t0137 a0001c0001t0140 a0001c0001t0141 a0001c0001t0143 a0001c0001t0144 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0001t0154 a0001c0001t0164 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0001c0001t0175 a0001c0001t0178 a0001c0001t0189 a0001c0001t0191 a0001c0001t0195 a0001c0001t0196 a0001c0001t0201	a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 others(52): Show a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0023g0000 a0001c0001t0032g0000 a0001c0001t0038g0000 a0001c0001t0041g0000 a0001c0001t0044g0000 a0001c0001t0048g0000 a0001c0001t0050g0000 a0001c0001t0051g0000 a0001c0001t0052g0000 a0001c0001t0053g0000 a0001c0001t0055g0000 a0001c0001t0056g0000 a0001c0001t0058g0000 a0001c0001t0059g0000 a0001c0001t0061g0000 a0001c0001t0072g0000 a0001c0001t0073g0000 a0001c0001t0077g0000 a0001c0001t0096g0000 a0001c0001t0108g0000 a0001c0001t0113g0000 a0001c0001t0114g0000 a0001c0001t0123g0000 a0001c0001t0127g0000 a0001c0001t0132g0000 a0001c0001t0135g0000 a0001c0001t0137g0000 a0001c0001t0140g0000 a0001c0001t0141g0000 a0001c0001t0143g0000 a0001c0001t0144g0000 a0001c0001t0147g0000 a0001c0001t0149g0000 a0001c0001t0150g0000 a0001c0001t0154g0000 a0001c0001t0164g0000 a0001c0001t0165g0000 a0001c0001t0167g0000 a0001c0001t0168g0000 a0001c0001t0175g0000 a0001c0001t0178g0000 a0001c0001t0189g0000 a0001c0001t0191g0000 a0001c0001t0195g0000 a0001c0001t0196g0000 a0001c0001t0201g0000	111	434	0.2558	44	c.11 others(57): Show c.11351_*11352insGAGGCTGGGGTGAAGGAGCTGGGAGGCTGGGG TGGAGGAGCTGT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4014		chr2	TogoVar
SOX11_chr2_5687384_5706385	5705414	G G	GAGCTGGG others(37): Show GAGCTGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0202 a0001c0001t0202	a0001c0001t0202g0000 a0001c0001t0202g0000	1	434	0.0023	44	c.11 others(57): Show c.11367_*11368insAGCTGGGAGGCTGGGGTGGAGGAGCTGGGAGG CTGGGGTGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4030		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706103	G G	GCTGGGGT others(37): Show GCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG03195.hp2 others(2): Show HG02630.hp2 HG03041.hp2 HG03195.hp2 HG04199.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0062 others(1): Show a0001c0001t0005 a0001c0001t0036 a0001c0001t0062 a0001c0001t0158	a0001c0001t0005g0000 a0001c0001t0036g0000 a0001c0001t0062g0000 others(1): Show a0001c0001t0005g0000 a0001c0001t0036g0000 a0001c0001t0062g0000 a0001c0001t0158g0000	5	434	0.0115	44	c.12 others(57): Show c.12056_*12057insCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGA GGAGCAGGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4719		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706141	A A	AGGGAGAC others(37): Show AGGGAGACTGGGGTAGAGGAACAGGGAGGCTGGGGTGGAGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0000 a0001c0001t0179g0000	1	434	0.0023	44	c.12 others(57): Show c.12094_*12095insGGGAGACTGGGGTAGAGGAACAGGGAGGCTGG GGTGGAGGAGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4757		chr2	TogoVar

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Search Results (Total: 4475 hits)