Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALPK2_chr18_58476247_58634091	58578734	A A	ACACACAC others(15): Show ACACACACACGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02572.hp1 others(5): Show HG01884.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG03453.hp2 HG03471.hp2	a0008 a0013 a0026 a0008 a0013 a0026	a0008c0041 a0013c0025 a0013c0036 others(1): Show a0008c0041 a0013c0025 a0013c0036 a0026c0037	a0008c0041t0003 a0013c0025t0010 a0013c0025t0014 others(3): Show a0008c0041t0003 a0013c0025t0010 a0013c0025t0014 a0013c0036t0003 a0013c0036t0013 a0026c0037t0014	a0008c0041t0003g0135 a0013c0025t0010g0110 a0013c0025t0014g0109 others(5): Show a0008c0041t0003g0135 a0013c0025t0010g0110 a0013c0025t0014g0109 a0013c0025t0014g0111 a0013c0036t0003g0319 a0013c0036t0013g0107 a0026c0037t0014g0106 a0026c0037t0014g0108	8	302	0.0265	22	c.196 others(37): Show c.1962+79_1962+80insCGCGCGCGCGCGCGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578736	A A	ACACACAC others(15): Show ACACACACGCGCGCACGCGCGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(61): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02683.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18941.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18963.hp2 NA18966.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0007 a0008 a0017 a0024 a0027 a0028 a0032 a0040 a0041	a0001c0002 a0001c0080 a0001c0081 others(16): Show a0001c0002 a0001c0080 a0001c0081 a0001c0082 a0002c0001 a0002c0016 a0005c0005 a0005c0085 a0005c0087 a0007c0015 a0007c0039 a0008c0027 a0017c0026 a0024c0040 a0027c0038 a0028c0078 a0032c0084 a0040c0086 a0041c0089	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(29): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0080t0001 a0001c0081t0005 a0001c0082t0005 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0016t0006 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0005t0015 a0005c0085t0002 a0005c0087t0002 a0007c0015t0002 a0007c0015t0003 a0007c0015t0004 a0007c0015t0009 a0007c0039t0008 a0008c0027t0002 a0017c0026t0003 a0017c0026t0017 a0024c0040t0005 a0027c0038t0004 a0028c0078t0008 a0032c0084t0004 a0040c0086t0008 a0041c0089t0001	a0001c0002t0001g0147 a0001c0002t0001g0166 a0001c0002t0001g0178 others(61): Show a0001c0002t0001g0147 a0001c0002t0001g0166 a0001c0002t0001g0178 a0001c0002t0001g0200 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0232 a0001c0002t0001g0246 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0072 a0001c0002t0003g0301 a0001c0002t0003g0318 a0001c0002t0004g0280 a0001c0002t0004g0297 a0001c0002t0007g0075 a0001c0080t0001g0300 a0001c0081t0005g0269 a0001c0082t0005g0175 a0002c0001t0001g0155 a0002c0001t0001g0164 a0002c0001t0001g0177 a0002c0001t0001g0190 a0002c0001t0001g0192 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0201 a0002c0001t0001g0205 a0002c0001t0001g0217 a0002c0001t0001g0255 a0002c0001t0002g0062 a0002c0001t0002g0063 a0002c0001t0002g0071 a0002c0001t0002g0077 a0002c0001t0006g0033 a0002c0001t0006g0070 a0002c0016t0006g0052 a0005c0005t0001g0124 a0005c0005t0001g0202 a0005c0005t0001g0308 a0005c0005t0002g0003 a0005c0005t0002g0018 a0005c0005t0002g0020 a0005c0005t0002g0023 a0005c0005t0002g0053 a0005c0005t0007g0019 a0005c0005t0015g0022 a0005c0085t0002g0024 a0005c0087t0002g0017 a0007c0015t0002g0057 a0007c0015t0003g0170 a0007c0015t0004g0189 a0007c0015t0009g0004 a0007c0039t0008g0120 a0008c0027t0002g0021 a0017c0026t0003g0123 a0017c0026t0017g0064 a0024c0040t0005g0252 a0027c0038t0004g0281 a0027c0038t0004g0282 a0028c0078t0008g0284 a0032c0084t0004g0199 a0040c0086t0008g0225 a0041c0089t0001g0156	64	316	0.2025	22	c.196 others(37): Show c.1962+77_1962+78insCGCGCGCGTGCGCGCGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578738	A A	ACACACGC others(15): Show ACACACGCGCGCACGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(3): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG03017.hp2 HG03486.hp2 NA19077.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0001 a0007c0039 a0001c0002 a0002c0001 a0007c0039	a0001c0002t0003 a0002c0001t0001 a0002c0001t0003 others(1): Show a0001c0002t0003 a0002c0001t0001 a0002c0001t0003 a0007c0039t0008	a0001c0002t0003g0148 a0001c0002t0003g0180 a0001c0002t0003g0181 others(3): Show a0001c0002t0003g0148 a0001c0002t0003g0180 a0001c0002t0003g0181 a0002c0001t0001g0122 a0002c0001t0003g0191 a0007c0039t0008g0283	6	284	0.0211	22	c.196 others(37): Show c.1962+75_1962+76insCGCGCGCGCGTGCGCGCGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPL_chr1_21504423_21583410	21554829	C C	CTTTCTTT others(15): Show CTTTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0299 a0005c0009t0004g0299	1	368	0.0027	22	c.61+ others(35): Show c.61+696_61+697insCTCTTTCTTTCTTTTTCTTTCT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21554833	C C	CTTTCTTT others(15): Show CTTTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02486.hp1 HG02630.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0003 a0005c0009t0004 a0001c0001t0003 a0005c0009t0004	a0001c0001t0003g0266 a0005c0009t0004g0300 a0001c0001t0003g0266 a0005c0009t0004g0300	2	368	0.0054	22	c.61+ others(35): Show c.61+700_61+701insCTCTTTCTTTCTTTTTCTTTCT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	128	0.0078	22	c.-36 others(33): Show c.-3652_-3651insTCTCTCTCTCTCTCTATATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	128	0.0078	22	c.-36 others(33): Show c.-3652_-3651insTCTCTCTCTCTCTCTCTCTATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	128	0.0078	22	c.-36 others(33): Show c.-3652_-3651insTCTCTCTCTCTCTCTCTCTCTA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG01243.hp2 others(10): Show HG00280.hp1 HG01074.hp2 HG01243.hp2 HG02080.hp1 HG02135.hp1 NA18947.hp1 NA18959.hp1 NA18959.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0122 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0231 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0005t0001g0059	13	16	0.8125	22	c.603 others(39): Show c.603+3301_603+3322dupACACACACACACACACACACAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01257.hp2 others(22): Show HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01981.hp2 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03654.hp2 HG03710.hp1 HG04115.hp1 NA18942.hp2 NA18971.hp1 NA18990.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0047 others(22): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0001t0009g0057 a0001c0002t0002g0122	25	34	0.7353	22	c.297 others(41): Show c.2977-1965_2977-1944dupGTGTGTGTGTGTGTGTGTGTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp2 HG01261.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0001 a0001c0001t0005g0002	2	65	0.0308	22	c.207 others(43): Show c.2072+14446_2072+14467dupTTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0020 a0001c0001t0003g0021	2	9	0.2222	22	c.-12 others(41): Show c.-120-3890_-120-3869dupTTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	67	0.0149	22	c.-12 others(41): Show c.-121+8132_-121+8133insATATATATATATATATATTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 HG02572.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0016 a0001c0001t0003g0019	2	68	0.0294	22	c.-12 others(41): Show c.-121+8111_-121+8132dupATATATATATATATATATATAT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18947.hp1 NA19240.hp2 HG00438.hp1 NA18947.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0003t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0003t0001g0010	3	15	0.2000	22	c.38 others(33): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMFR_chr16_56356452_56430545	56397703	A A	AATCATTT others(15): Show AATCATTTATAATATATAAATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00673.hp2 others(10): Show HG00423.hp2 HG00621.hp2 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG02004.hp1 HG03710.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18971.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0023	a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0111 others(10): Show a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0111 a0001c0001t0002g0125 a0001c0001t0007g0054 a0001c0001t0008g0084 a0001c0001t0008g0113 a0001c0001t0008g0115 a0001c0001t0011g0055 a0001c0001t0011g0064 a0001c0001t0011g0082 a0001c0001t0018g0057 a0001c0001t0023g0070	13	246	0.0528	22	c.108 others(41): Show c.1085+4008_1085+4029dupACATTTATATATTATAAATGAT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56398098	G G	GTATCATT others(15): Show GTATCATTTATAATATATAACTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	354	0.0028	22	c.108 others(41): Show c.1085+3634_1085+3635insGAGTTATATATTATAAATGATA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56398118	A A	ATGTATCA others(15): Show ATGTATCATTTATAATATATAAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	271	0.0037	22	c.108 others(41): Show c.1085+3593_1085+3614dupGTTATATATTATAAATGATACA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56398120	G G	GTATCATT others(15): Show GTATCATTTATAATATATAACTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	346	0.0029	22	c.108 others(41): Show c.1085+3591_1085+3612dupGAGTTATATATTATAAATGATA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01255.hp2 HG01928.hp2 others(10): Show HG00673.hp1 HG01255.hp2 HG01928.hp2 HG02055.hp2 HG02109.hp2 HG02886.hp1 HG03225.hp1 NA18522.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0001t0033 a0001c0001t0052	a0001c0001t0001g0177 a0001c0001t0005g0023 a0001c0001t0006g0010 others(10): Show a0001c0001t0001g0177 a0001c0001t0005g0023 a0001c0001t0006g0010 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0042 a0001c0001t0009g0223 a0001c0001t0009g0232 a0001c0001t0020g0219 a0001c0001t0033g0013 a0001c0001t0052g0344	13	99	0.1313	22	c.667 others(39): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109501054	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	212	0.0047	22	c.63 others(33): Show c.6376_*6377insGTGTGTGTGTGTGTGTGTGTGT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		3123		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(15): Show TCATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01168.hp2 others(23): Show HG00408.hp2 HG00609.hp1 HG01168.hp2 HG02040.hp2 HG02056.hp2 HG03017.hp2 HG03225.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 NA18939.hp1 NA18946.hp1 NA18950.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19063.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0002 a0001c0001t0002g0008	26	195	0.1333	22	c.39 others(33): Show c.3954_*3955insTATATATATATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	2	171	0.0117	22	c.39 others(33): Show c.3954_*3955insTATATATATATATATATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109513895	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	123	0.0081	22	c.-45 others(33): Show c.-4564_-4563insTTTTTTTTTTTTTTTTTTTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		4169		chr1	TogoVar
AMN_chr14_102917663_102935842	102930794	C C	CTCCCTCC others(15): Show CTCCCTCCGCCTCTCTCTCGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0078 a0001c0001t0010g0078	1	450	0.0022	22	c.11 others(31): Show c.114_*115insTCCCTCCGCCTCTCTCTCGGGG	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	12/12	115		chr14	TogoVar
AMOTL2_chr3_134350347_134379447	134372530	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	53	0.0189	22	c.-61 others(39): Show c.-61-1058_-61-1037dupGTGTGTGTGTGTGTGTGTGTGT	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	1/9			chr3	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18946.hp2 NA18959.hp2 others(1): Show HG03490.hp2 NA18946.hp2 NA18959.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0003g0070 others(1): Show a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0003g0070 a0001c0001t0006g0031	4	121	0.0331	22	c.139 others(43): Show c.1398+10782_1398+10803dupAGAGAGAGAGAGAGAGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18943.hp1 HG01433.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0023 a0001c0005t0004g0138 a0001c0001t0001g0023 a0001c0005t0004g0138	2	230	0.0087	22	c.139 others(43): Show c.1398+10776_1398+10777insTATATAGAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	229	0.0044	22	c.139 others(43): Show c.1398+10776_1398+10777insTATAGAGAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	229	0.0044	22	c.139 others(43): Show c.1398+10776_1398+10777insTAGAGAGAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01978.hp1 HG01978.hp2 others(7): Show HG01257.hp1 HG01978.hp1 HG01978.hp2 HG02258.hp1 HG02683.hp2 HG02896.hp2 HG03471.hp1 HG03710.hp2 NA18957.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0012t0005	a0001c0001t0001g0088 a0001c0001t0001g0156 a0001c0001t0001g0201 others(7): Show a0001c0001t0001g0088 a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0039 a0001c0001t0003g0202 a0001c0001t0004g0082 a0001c0002t0002g0280 a0001c0012t0005g0115	10	29	0.3448	22	c.139 others(41): Show c.1398+1701_1398+1722dupATATATATATATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	131	0.0076	22	c.101 others(41): Show c.1018-8623_1018-8622insGTGTGTGTGTATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38467640	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0083 a0003c0006t0004g0083	1	3	0.3333	22	c.591 others(39): Show c.591-1414_591-1393dupCACACACACACACACACACACA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	7/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38525277	T T	TATATATA others(15): Show TATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG03130.hp2 HG02559.hp1 HG02970.hp1 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0004 a0001c0001t0004 a0003c0006t0004	a0001c0001t0004g0256 a0003c0006t0004g0004 a0003c0006t0004g0007 a0001c0001t0004g0256 a0003c0006t0004g0004 a0003c0006t0004g0007	3	174	0.0172	22	c.150 others(39): Show c.150+9653_150+9654insCTCTATATATATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	2/20			chr7	TogoVar
AMZ2_chr17_68243043_68262155	68247357	A A	AAAAAGCA others(15): Show AAAAAGCAAGAAAAAGAAATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	383	0.0026	22	c.-13 others(33): Show c.-1349_-1348insAAAAGCAAGAAAAAGAAATAAG	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding		685		chr17	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18954.hp1 HG02976.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0260 a0001c0001t0001g0168 a0001c0001t0001g0260	2	109	0.0183	22	c.328 others(41): Show c.328-31343_328-31342insCACATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(15): Show ATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02083.hp2 HG03017.hp2 others(7): Show HG01928.hp2 HG02083.hp2 HG03017.hp2 NA18948.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA19066.hp2 NA19070.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0174 a0001c0001t0001g0177 others(7): Show a0001c0001t0001g0128 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0246 a0001c0001t0001g0259	10	117	0.0855	22	c.328 others(41): Show c.328-31343_328-31342insCACACATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(15): Show ATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	108	0.0093	22	c.328 others(41): Show c.328-31343_328-31342insCACACACATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp1 HG02451.hp1 others(6): Show HG00673.hp2 HG02083.hp1 HG02451.hp1 HG02735.hp2 NA18960.hp2 NA19030.hp1 NA19074.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0001g0072 a0001c0001t0001g0101 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0323 a0001c0001t0005g0043 a0001c0001t0005g0049	9	89	0.1011	22	c.327 others(41): Show c.327+30048_327+30049insTATATATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	297	0.0034	22	c.-28 others(39): Show c.-28+2028_-28+2029insAAAAAAAAAAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(15): Show TATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02055.hp1 HG00621.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0006t0013 a0001c0003t0004 a0001c0006t0013	a0001c0003t0004g0297 a0001c0006t0013g0016 a0001c0003t0004g0297 a0001c0006t0013g0016	2	270	0.0074	22	c.44 others(33): Show c.4477_*4478insGTGTGTGTATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(15): Show TATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0280 a0001c0003t0004g0280	1	269	0.0037	22	c.44 others(33): Show c.4477_*4478insGTGTGTATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(15): Show TATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01358.hp1 HG00280.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0273 a0001c0003t0004g0274	2	270	0.0074	22	c.44 others(33): Show c.4477_*4478insGTGTATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(15): Show TATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA19055.hp2 NA18970.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0300 a0001c0003t0004g0301	2	270	0.0074	22	c.44 others(33): Show c.4477_*4478insGTATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp1 HG02015.hp1 others(5): Show HG01943.hp2 HG02004.hp1 HG02015.hp1 NA18949.hp2 NA18982.hp2 NA19000.hp2 NA19003.hp2 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0018 a0001c0004 a0001c0018	a0001c0004t0003 a0001c0018t0003 a0001c0004t0003 a0001c0018t0003	a0001c0004t0003g0162 a0001c0004t0003g0176 a0001c0004t0003g0177 others(5): Show a0001c0004t0003g0162 a0001c0004t0003g0176 a0001c0004t0003g0177 a0001c0004t0003g0179 a0001c0004t0003g0180 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0018t0003g0156	8	122	0.0656	22	c.247 others(39): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121357400	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA18906.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0001g0197 a0001c0001t0001g0218	2	166	0.0120	22	c.-50 others(33): Show c.-5061_-5060insTTCTTTCTTTCTTTCTTTCTTT	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		4990		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110368308	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	116	0.0086	22	c.58 others(33): Show c.5835_*5836insTTTTTTTTTTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding		4591		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382455	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	245	0.0041	22	c.935 others(37): Show c.935+387_935+388insATATATATATATATATATATAT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387255	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	99	0.0101	22	c.674 others(37): Show c.674+462_674+483dupCTCTCTCTCTCTCTCTCTCTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110394669	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	52	0.0192	22	c.408 others(37): Show c.408+410_408+431dupTTTTTTTTTTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	3/10			chr12	TogoVar

Search by Variant

Search

Search Results