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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0188 a0008c0008t0006g0188	1	358	0.0028	33	c.120 others(50): Show c.1208-967_1208-966insATATATATATATATATATATATATATAT ATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0010 a0010c0012t0010	a0010c0012t0010g0144 a0010c0012t0010g0144	1	358	0.0028	33	c.120 others(50): Show c.1208-967_1208-966insAAATATATATATATATATATATATATAT ATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0007 a0012c0016t0007	a0012c0016t0007g0217 a0012c0016t0007g0217	1	358	0.0028	33	c.120 others(50): Show c.1208-967_1208-966insAAAAAAAAATATATATATATATATATAT ATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35226480	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	290	0.0035	33	c.86- others(48): Show c.86-1078_86-1077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCX_chr8_144261453_144273481	144262774	A A	ACCCCCAC others(26): Show ACCCCCACCCCTCACCTGCAGGGTACACCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(113): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02896.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA19009.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0010g0002 a0002c0003t0001g0002	116	440	0.2636	33	c.-38 others(44): Show c.-3840_-3839insCCCCCACCCCTCACCTGCAGGGTACACCGCCCC		SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding					3678		chr8	TogoVar
SCX_chr8_144261453_144273481	144262803	G G	GCCCCCCC others(26): Show GCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	33	c.-38 others(44): Show c.-3811_-3810insCCCCCCCCACCCCTCACCTGCAGGGTACACCGC		SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding					3649		chr8	TogoVar
SCX_chr8_144261453_144273481	144262804	C C	CCCCCCCC others(26): Show CCCCCCCCCCACCCCTCACCTGCAGGGTACACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	33	c.-38 others(44): Show c.-3810_-3809insCCCCCCCCCACCCCTCACCTGCAGGGTACACCG		SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding					3648		chr8	TogoVar
SCX_chr8_144261453_144273481	144262839	C C	CCCCCCCC others(26): Show CCCCCCCCCCACCCCTCACCTGCAGGGTGCACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	33	c.-37 others(44): Show c.-3775_-3774insCCCCCCCCCACCCCTCACCTGCAGGGTGCACTG		SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding					3613		chr8	TogoVar
SCYGR5_chr2_227661804_227672061	227666828	T T	TGTGGTGG others(26): Show TGTGGTGGCTGCGGTGGCTGCGGTGGCGGCTGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01109.hp2 HG01255.hp1 HG02055.hp1 others(12): Show HG01109.hp2 HG01255.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0000 a0005c0006t0000	a0005c0006t0000g0000 a0005c0006t0000g0000	15	460	0.0326	33	c.42_ others(38): Show c.42_43insTGCGGTGGCGGCTGCGGTGGTGGCTGCGGTGGC	p.Gly others(44): Show p.Gly14_Gly15insCysGlyGlyGlyCysGlyGlyGlyCysGlyGly	SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding	1/1	43/258	43/258	15/85		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0307 a0001c0001t0086g0307	1	418	0.0024	33	c.26 others(44): Show c.2667_*2668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2667		chr1	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01257.hp2 HG02896.hp2 others(3): Show HG01069.hp2 HG01257.hp2 HG02896.hp2 HG03041.hp2 NA19082.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0148 a0001c0001t0001g0263 a0001c0001t0003g0223 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0263 a0001c0001t0003g0223 a0001c0003t0003g0213 a0002c0002t0001g0035 a0002c0002t0002g0155	6	334	0.0180	33	c.61- others(50): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02615.hp1 HG02809.hp1 others(3): Show HG02083.hp2 HG02615.hp1 HG02809.hp1 NA18522.hp2 NA18959.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0172 a0001c0001t0002g0003	6	398	0.0151	33	c.-19 others(44): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding					1923		chr17	TogoVar
SDHA_chr5_213320_262082	260206	T T	TCAGAGCA others(26): Show TCAGAGCATTACCGTGTGAGCTCCCGCCTCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	266	0.0038	33	c.37 others(44): Show c.3786_*3787insCAGAGCATTACCGTGTGAGCTCCCGCCTCCCGG		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3125		chr5	TogoVar
SDHA_chr5_213320_262082	261962	T T	TCCCGTCA others(26): Show TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	266	0.0038	33	c.55 others(44): Show c.5542_*5543insCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4881		chr5	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	330	0.0030	33	c.-48 others(44): Show c.-4854_-4853insTATATATATATATATATTTTTTTTTTTTTTTTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding					4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	330	0.0030	33	c.180 others(48): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3435321	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0015 a0015	a0015c0085 a0015c0085	a0015c0085t0043 a0015c0085t0043	a0015c0085t0043g0010 a0015c0085t0043g0010	1	116	0.0086	33	c.298 others(54): Show c.298+133464_298+133465insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03704.hp1 HG01261.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0104 a0001c0007 a0002c0104	a0001c0007t0013 a0002c0104t0003 a0001c0007t0013 a0002c0104t0003	a0001c0007t0013g0091 a0002c0104t0003g0196 a0001c0007t0013g0091 a0002c0104t0003g0196	2	204	0.0098	33	c.559 others(52): Show c.5594-2538_5594-2537insAAATATATATATATATATATATATAT ATATATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18944.hp1 HG03540.hp2 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0028 a0001c0002 a0002c0028	a0001c0002t0001 a0002c0028t0062 a0001c0002t0001 a0002c0028t0062	a0001c0002t0001g0047 a0002c0028t0062g0024 a0001c0002t0001g0047 a0002c0028t0062g0024	2	204	0.0098	33	c.559 others(52): Show c.5594-2539_5594-2538insTATATATATATATATATATATATATA TATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73614688	T T	TTTGAAAA others(26): Show TTTGAAAAGGGGGAGGGAGGGAGGGGCACAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(34): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01981.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02735.hp2 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 NA18993.hp2 NA19010.hp1 NA19043.hp2 NA19074.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0009 a0012 a0017 a0018 a0019 a0021 a0023	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0015 a0001c0023 a0001c0024 a0001c0053 a0001c0070 a0001c0111 a0002c0079 a0002c0102 a0003c0009 a0003c0017 a0004c0027 a0004c0049 a0004c0066 a0004c0080 a0005c0012 a0005c0037 a0009c0021 a0012c0077 a0017c0055 a0018c0086 a0019c0081 a0021c0074 a0023c0091	a0001c0001t0001 a0001c0002t0001 a0001c0002t0041 others(32): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0041 a0001c0004t0001 a0001c0005t0001 a0001c0005t0024 a0001c0005t0050 a0001c0006t0014 a0001c0006t0020 a0001c0007t0003 a0001c0008t0030 a0001c0014t0004 a0001c0015t0030 a0001c0023t0017 a0001c0024t0009 a0001c0053t0022 a0001c0070t0083 a0001c0111t0001 a0002c0079t0002 a0002c0102t0021 a0003c0009t0002 a0003c0017t0005 a0004c0027t0011 a0004c0049t0002 a0004c0066t0018 a0004c0080t0054 a0005c0012t0074 a0005c0037t0057 a0009c0021t0004 a0012c0077t0036 a0017c0055t0066 a0018c0086t0012 a0019c0081t0001 a0021c0074t0009 a0023c0091t0008	a0001c0001t0001g0192 a0001c0002t0001g0137 a0001c0002t0041g0022 others(34): Show a0001c0001t0001g0192 a0001c0002t0001g0137 a0001c0002t0041g0022 a0001c0004t0001g0110 a0001c0005t0001g0050 a0001c0005t0024g0191 a0001c0005t0050g0032 a0001c0006t0014g0201 a0001c0006t0020g0202 a0001c0007t0003g0014 a0001c0007t0003g0026 a0001c0007t0003g0028 a0001c0008t0030g0103 a0001c0014t0004g0170 a0001c0015t0030g0129 a0001c0023t0017g0189 a0001c0024t0009g0188 a0001c0053t0022g0039 a0001c0070t0083g0005 a0001c0111t0001g0203 a0002c0079t0002g0200 a0002c0102t0021g0054 a0003c0009t0002g0199 a0003c0017t0005g0193 a0004c0027t0011g0035 a0004c0049t0002g0169 a0004c0066t0018g0031 a0004c0080t0054g0080 a0005c0012t0074g0185 a0005c0037t0057g0147 a0009c0021t0004g0194 a0012c0077t0036g0190 a0017c0055t0066g0062 a0018c0086t0012g0204 a0019c0081t0001g0186 a0021c0074t0009g0111 a0023c0091t0008g0182	37	204	0.1814	33	c.64+ others(50): Show c.64+29304_64+29336dupTCCTTGTGCCCCTCCCTCCCTCCCCCTT TTCAA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73614714	C C	CACAAGGA others(26): Show CACAAGGATTGAAAAGGGGGAGGGAGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(81): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19030.hp2 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0022 a0024 a0025	a0001c0001 a0001c0002 a0001c0003 others(58): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0024 a0001c0032 a0001c0036 a0001c0039 a0001c0041 a0001c0043 a0001c0046 a0001c0051 a0001c0064 a0001c0067 a0001c0071 a0001c0073 a0001c0082 a0001c0093 a0001c0094 a0001c0098 a0002c0020 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0060 a0002c0061 a0002c0103 a0002c0105 a0003c0009 a0003c0017 a0003c0022 a0003c0045 a0003c0088 a0004c0011 a0004c0027 a0004c0054 a0004c0095 a0005c0038 a0007c0019 a0007c0050 a0009c0113 a0010c0063 a0010c0108 a0011c0062 a0011c0107 a0013c0099 a0014c0034 a0015c0106 a0016c0058 a0022c0092 a0024c0087 a0025c0057	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(80): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0032 a0001c0001t0068 a0001c0002t0001 a0001c0002t0014 a0001c0003t0002 a0001c0003t0051 a0001c0003t0090 a0001c0004t0079 a0001c0005t0048 a0001c0005t0078 a0001c0006t0002 a0001c0006t0010 a0001c0006t0018 a0001c0006t0029 a0001c0007t0002 a0001c0007t0013 a0001c0008t0004 a0001c0008t0005 a0001c0008t0085 a0001c0010t0004 a0001c0010t0008 a0001c0013t0101 a0001c0014t0006 a0001c0016t0026 a0001c0016t0080 a0001c0024t0006 a0001c0032t0001 a0001c0032t0002 a0001c0036t0029 a0001c0039t0047 a0001c0041t0099 a0001c0043t0033 a0001c0046t0093 a0001c0051t0046 a0001c0064t0031 a0001c0067t0014 a0001c0071t0071 a0001c0073t0038 a0001c0082t0005 a0001c0093t0007 a0001c0094t0005 a0001c0098t0077 a0002c0020t0089 a0002c0028t0062 a0002c0029t0003 a0002c0029t0045 a0002c0030t0015 a0002c0030t0072 a0002c0031t0006 a0002c0060t0021 a0002c0061t0002 a0002c0103t0097 a0002c0105t0021 a0003c0009t0002 a0003c0009t0016 a0003c0009t0087 a0003c0017t0086 a0003c0022t0003 a0003c0022t0004 a0003c0045t0098 a0003c0088t0012 a0004c0011t0011 a0004c0027t0024 a0004c0054t0022 a0004c0095t0037 a0005c0038t0007 a0007c0019t0027 a0007c0050t0027 a0009c0113t0064 a0010c0063t0025 a0010c0108t0040 a0011c0062t0001 a0011c0107t0031 a0013c0099t0013 a0014c0034t0042 a0015c0106t0012 a0016c0058t0067 a0022c0092t0007 a0024c0087t0014 a0025c0057t0003	a0001c0001t0001g0013 a0001c0001t0009g0139 a0001c0001t0015g0072 others(81): Show a0001c0001t0001g0013 a0001c0001t0009g0139 a0001c0001t0015g0072 a0001c0001t0032g0001 a0001c0001t0068g0012 a0001c0002t0001g0047 a0001c0002t0014g0097 a0001c0003t0002g0075 a0001c0003t0051g0046 a0001c0003t0090g0132 a0001c0004t0079g0140 a0001c0005t0048g0145 a0001c0005t0078g0100 a0001c0006t0002g0077 a0001c0006t0010g0131 a0001c0006t0018g0109 a0001c0006t0029g0141 a0001c0007t0002g0043 a0001c0007t0013g0091 a0001c0008t0004g0051 a0001c0008t0005g0134 a0001c0008t0085g0142 a0001c0010t0004g0164 a0001c0010t0008g0058 a0001c0013t0101g0135 a0001c0014t0006g0113 a0001c0016t0026g0126 a0001c0016t0080g0165 a0001c0024t0006g0151 a0001c0032t0001g0136 a0001c0032t0002g0118 a0001c0036t0029g0122 a0001c0039t0047g0146 a0001c0041t0099g0125 a0001c0043t0033g0003 a0001c0046t0093g0044 a0001c0051t0046g0060 a0001c0064t0031g0160 a0001c0067t0014g0025 a0001c0071t0071g0092 a0001c0073t0038g0079 a0001c0082t0005g0093 a0001c0093t0007g0057 a0001c0094t0005g0089 a0001c0098t0077g0098 a0002c0020t0089g0106 a0002c0028t0062g0024 a0002c0029t0003g0078 a0002c0029t0045g0081 a0002c0030t0015g0094 a0002c0030t0072g0095 a0002c0031t0006g0121 a0002c0031t0006g0157 a0002c0060t0021g0143 a0002c0061t0002g0158 a0002c0103t0097g0163 a0002c0105t0021g0148 a0003c0009t0002g0088 a0003c0009t0016g0102 a0003c0009t0087g0008 a0003c0017t0086g0096 a0003c0022t0003g0167 a0003c0022t0004g0086 a0003c0045t0098g0184 a0003c0088t0012g0174 a0004c0011t0011g0059 a0004c0027t0024g0033 a0004c0054t0022g0084 a0004c0095t0037g0061 a0005c0038t0007g0052 a0007c0019t0027g0004 a0007c0050t0027g0172 a0009c0113t0064g0023 a0010c0063t0025g0166 a0010c0108t0040g0183 a0011c0062t0001g0138 a0011c0107t0031g0124 a0013c0099t0013g0133 a0014c0034t0042g0159 a0015c0106t0012g0099 a0016c0058t0067g0161 a0022c0092t0007g0114 a0024c0087t0014g0064 a0025c0057t0003g0171	84	204	0.4118	33	c.64+ others(50): Show c.64+29278_64+29310dupCCCCCTCCCTCCCTCCCCCTTTTCAATC CTTGT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73614765	G G	GGAGGGAG others(26): Show GGAGGGAGGGAGGGGGACAAGGATTGAAAAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0013 a0013	a0013c0100 a0013c0100	a0013c0100t0069 a0013c0100t0069	a0013c0100t0069g0090 a0013c0100t0069g0090	1	204	0.0049	33	c.64+ others(50): Show c.64+29259_64+29260insTCCCTTTTCAATCCTTGTCCCCCTCCCT CCCTC		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44						chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454869	C C	CATAATAT others(26): Show CATAATATATTATTATATATCATATAACAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0007 a0007c0009t0007	a0007c0009t0007g0128 a0007c0009t0007g0128	1	454	0.0022	33	c.51 others(44): Show c.5151_*5152insATATCTGTTATATGATATATAATAATATATTAT		SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding					4359		chr22	TogoVar
SEC16B_chr1_177923788_177975058	177960892	G G	GAGGGATG others(26): Show GAGGGATGTAGAACTTCATGGGTGCTTTGGGACC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp2 HG00609.hp1 HG00738.hp2 others(9): Show HG00423.hp2 HG00609.hp1 HG00738.hp2 HG01261.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18988.hp1 NA19012.hp1 NA19070.hp2 NA19090.hp1	a0009 a0014 a0023 others(2): Show a0009 a0014 a0023 a0025 a0026	a0009c0015 a0009c0030 a0014c0035 others(3): Show a0009c0015 a0009c0030 a0014c0035 a0023c0071 a0025c0070 a0026c0069	a0009c0015t0002 a0009c0030t0002 a0014c0035t0002 others(3): Show a0009c0015t0002 a0009c0030t0002 a0014c0035t0002 a0023c0071t0002 a0025c0070t0002 a0026c0069t0001	a0009c0015t0002g0039 a0009c0015t0002g0215 a0009c0015t0002g0216 others(8): Show a0009c0015t0002g0039 a0009c0015t0002g0215 a0009c0015t0002g0216 a0009c0015t0002g0218 a0009c0030t0002g0191 a0009c0030t0002g0192 a0014c0035t0002g0317 a0014c0035t0002g0318 a0023c0071t0002g0219 a0025c0070t0002g0217 a0026c0069t0001g0214	12	408	0.0294	33	c.802 others(40): Show c.802_834dupGGTCCCAAAGCACCCATGAAGTTCTACATCCCT	p.Pro others(46): Show p.Pro278_His279insGlyProLysAlaProMetLysPheTyrIlePr o	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	7/26	1067/4486	834/3183	278/1060			chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(26): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02683.hp1 others(3): Show HG01891.hp1 HG02280.hp2 HG02683.hp1 HG02886.hp1 NA18982.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0158 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0236 a0001c0001t0001g0299 a0001c0001t0002g0059	6	324	0.0185	33	c.11 others(44): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(26): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG04228.hp1 NA19082.hp1 HG01261.hp2 HG04228.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0002g0004 a0001c0001t0002g0039 a0001c0001t0001g0145 a0001c0001t0002g0004 a0001c0001t0002g0039	3	324	0.0093	33	c.11 others(44): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(26): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG02559.hp2 others(1): Show HG00597.hp2 HG00609.hp1 HG02559.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0001g0284 a0001c0001t0002g0026 others(1): Show a0001c0001t0001g0214 a0001c0001t0001g0284 a0001c0001t0002g0026 a0001c0001t0002g0027	4	324	0.0124	33	c.11 others(44): Show c.1165_*1166insTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(26): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0084 a0001c0001t0001g0096	2	324	0.0062	33	c.11 others(44): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(26): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02602.hp2 HG02735.hp2 others(2): Show HG01993.hp2 HG02602.hp2 HG02735.hp2 HG03710.hp1 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0108 a0002c0002t0003g0219 a0002c0002t0003g0274 others(2): Show a0002c0002t0003g0108 a0002c0002t0003g0219 a0002c0002t0003g0274 a0002c0002t0004g0015 a0002c0002t0004g0041	5	324	0.0154	33	c.11 others(44): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(26): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	324	0.0031	33	c.115 others(50): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SEL1L_chr14_81466547_81538853	81525489	T T	TAATTTTT others(26): Show TAATTTTTTAAATTACCATTTAAATTACCATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(17): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01981.hp1 HG02083.hp1 NA18946.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18961.hp1 NA18981.hp2 NA18993.hp1 NA18999.hp1 NA19004.hp1 NA19006.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0091 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0291	20	360	0.0556	33	c.340 others(50): Show c.340+1243_340+1244insTAAATGGTAATTTAAATGGTAATTTAAA AAATT		SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20						chr14	TogoVar
SEL1L_chr14_81466547_81538853	81536270	G G	GAGTAGCT others(26): Show GAGTAGCTGACGTGCTCTGAGAATTCTCATAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	360	0.0028	33	c.-25 others(44): Show c.-2527_-2526insTCCTATGAGAATTCTCAGAGCACGTCAGCTACT		SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding					2418		chr14	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	380	0.0026	33	c.35 others(44): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding					767		chr3	TogoVar
SELENOW_chr19_47773703_47789682	47781607	A A	ATATGCAG others(26): Show ATATGCAGGATGACAGCTGAGATGGGGTCAAAGG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19004.hp2 NA18985.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	406	0.0049	33	c.18 others(48): Show c.18+244_*18+276dupGGTCAAAGGTATGCAGGATGACAGCTGAGA TGG		SELENOW	ENSG00000178980.16	transcript	ENST00000601048.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
SEMA3E_chr7_83358238_83654139	83570552	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0071 a0001c0008t0065g0071	1	226	0.0044	33	c.115 others(52): Show c.115+77875_115+77876insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83639110	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0006 a0001c0001t0038g0006	1	226	0.0044	33	c.115 others(50): Show c.115+9317_115+9318insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16						chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353060	G G	GAAGGAAA others(26): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp1 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0008 a0001c0016t0038 a0001c0001t0008 a0001c0016t0038	a0001c0001t0008g0111 a0001c0016t0038g0037 a0001c0001t0008g0111 a0001c0016t0038g0037	2	134	0.0149	33	c.125 others(52): Show c.125-15249_125-15248insTCCTTCCTTCCTTTCCTTTCCTTTCC TTTCCTT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22						chr5	TogoVar
SEMG2_chr20_45216373_45229458	45225507	A A	AAAGAAGA others(26): Show AAAGAAGAAGAAAAGAAAGAAAGAAAGAAAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	362	0.0028	33	c.12 others(44): Show c.1261_*1262insAAGAAGAAGAAAAGAAAGAAAGAAAGAAAGAAT		SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding					1050		chr20	TogoVar
SENP1_chr12_48037897_48111079	48110770	T T	TTTTTCCA others(26): Show TTTTTCCAACATCTTGCCTATCAGTATAAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	394	0.0025	33	c.-48 others(44): Show c.-4820_-4788dupGCTGCTTATACTGATAGGCAAGATGTTGGAAAA		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding					4692		chr12	TogoVar
SENP3_chr17_7556919_7576969	7571837	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0006 a0001c0001t0158g0006	1	446	0.0022	33	c.35 others(42): Show c.354_*355insATATATATATATATATATATATATATATATATA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				355		chr17	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0275 a0001c0001t0032g0275	1	306	0.0033	33	c.188 others(52): Show c.1885-8827_1885-8826insAAAAAAAAATATATATATATATATAT ATATATA		SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0256 a0001c0001t0060g0256	1	306	0.0033	33	c.188 others(52): Show c.1885-8828_1885-8827insTATATATATATATATATATATATATA TATATAT		SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9						chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	362	0.0028	33	c.43 others(44): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding					1678		chr6	TogoVar
SEPTIN9_chr17_77314518_77505593	77485206	A A	ATGATTGT others(26): Show ATGATTGTGATGGTGGTGAAGGGGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0050 a0002c0002t0008g0050	1	158	0.0063	33	c.860 others(50): Show c.860-2199_860-2167dupAGGGGGTGATGGTGGTGATTGTGATGGT GGTGA		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169380	A A	ATATATAT others(26): Show ATATATATAATATGTATATTATATATATAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0187 a0001c0001t0006g0187	1	366	0.0027	33	c.-12 others(44): Show c.-1243_-1242insCATATTATATATATAATATACATATTATATATA		SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding					1119		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0063 a0001c0001t0038g0063	1	368	0.0027	33	c.92 others(44): Show c.9279_*9280insATATATATATATATATATTTTTTTTTTTTTTTT		SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding					3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0071 a0001c0001t0016g0071	1	368	0.0027	33	c.92 others(44): Show c.9279_*9280insATATATATATATATATATATATTTTTTTTTTTT		SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding					3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG03834.hp1 HG02615.hp1 HG02895.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0059 a0001c0001t0002 a0001c0001t0009 a0001c0001t0059	a0001c0001t0002g0201 a0001c0001t0009g0015 a0001c0001t0059g0166 a0001c0001t0002g0201 a0001c0001t0009g0015 a0001c0001t0059g0166	3	368	0.0082	33	c.92 others(44): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTTT		SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding					3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG03490.hp1 NA18946.hp1 others(3): Show HG00099.hp2 HG03490.hp1 NA18946.hp1 NA18960.hp2 NA18961.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0036 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0036 a0001c0001t0041 a0001c0001t0096	a0001c0001t0002g0002 a0001c0001t0009g0050 a0001c0001t0009g0052 others(3): Show a0001c0001t0002g0002 a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0036g0038 a0001c0001t0041g0040 a0001c0001t0096g0188	6	368	0.0163	33	c.92 others(44): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTTT		SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding					3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 NA18995.hp2 NA19006.hp2 others(2): Show HG01167.hp2 NA18995.hp2 NA19006.hp2 NA19056.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023	a0001c0001t0002g0177 a0001c0001t0005g0170 a0001c0001t0007g0016 others(2): Show a0001c0001t0002g0177 a0001c0001t0005g0170 a0001c0001t0007g0016 a0001c0001t0007g0174 a0001c0001t0023g0175	5	368	0.0136	33	c.92 others(44): Show c.9279_*9280insATATATATATATATATATATATATATATTTTTT		SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding					3882		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 4928 hits)