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
CSTPP1_chr11_46931761_47167247	47097451	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	224	0.0045	50	c.281 others(69): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTCGGGGGGG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47097451	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01261.hp1 others(8): Show HG00597.hp2 HG00735.hp1 HG01261.hp1 HG01993.hp2 HG02055.hp2 HG02647.hp1 HG03209.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18962.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0112 a0001c0001t0001g0142 a0001c0001t0001g0151 others(8): Show a0001c0001t0001g0112 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0211 a0001c0001t0002g0218 a0003c0003t0001g0113	11	224	0.0491	50	c.281 others(69): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNNA3_chr10_65907523_67701195	67550676	G G	GTAGAATA others(43): Show GTAGAATAAAGAAATTTCTTTATTCATAGAATAAAGAAATTTCTTTATTC A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG03130.hp2 HG01243.hp1 HG02145.hp2 HG03130.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0001 a0002c0002t0026 a0003c0009t0003 a0002c0002t0001 a0002c0002t0026 a0003c0009t0003	a0002c0002t0001g0035 a0002c0002t0026g0046 a0003c0009t0003g0036 a0002c0002t0001g0035 a0002c0002t0026g0046 a0003c0009t0003g0036	3	46	0.0652	50	c.293 others(69): Show c.293-11008_293-11007insTGAATAAAGAAATTTCTTTATTCTAT GAATAAAGAAATTTCTTTATTCTA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01258.hp2 HG01515.hp1 HG00323.hp2 HG01258.hp2 HG01515.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0007 a0002c0002t0010 a0001c0003t0003 a0002c0002t0007 a0002c0002t0010	a0001c0003t0003g0202 a0002c0002t0007g0033 a0002c0002t0010g0254 a0001c0003t0003g0202 a0002c0002t0007g0033 a0002c0002t0010g0254	3	372	0.0081	50	c.-18 others(61): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(43): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02080.hp1 HG02738.hp2 others(1): Show HG00597.hp2 HG02080.hp1 HG02738.hp2 NA18970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0040 a0004c0005t0001g0248 a0001c0001t0001g0019 a0001c0001t0001g0040 a0004c0005t0001g0248	4	434	0.0092	50	c.24 others(61): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTTNBP2_chr7_117705651_117878441	117864725	C C	CATATATT others(43): Show CATATATTCATATATATTCATTCAATATATATTCATATATATTCATTCAA T	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18960.hp2 HG01361.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0015 a0001c0001t0001g0021	2	164	0.0122	50	c.82- others(65): Show c.82-3459_82-3410dupATTGAATGAATATATATGAATATATATTGA ATGAATATATATGAATATAT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117864843	C C	CTATATTC others(43): Show CTATATTCATATATATTCATTCAATATATATTCATATATATTCATTCAAT A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01433.hp1 HG02257.hp2 others(4): Show HG01168.hp1 HG01433.hp1 HG02257.hp2 HG02280.hp2 HG02896.hp1 HG03041.hp1 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0004 a0006c0010t0001 a0001c0001t0001 a0001c0001t0004 a0006c0010t0001	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0004g0054 a0006c0010t0001g0121	7	164	0.0427	50	c.82- others(65): Show c.82-3577_82-3528dupTATTGAATGAATATATATGAATATATATTG AATGAATATATATGAATATA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(43): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19081.hp1 NA19000.hp2 NA19081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0046 a0003c0003t0002g0303 a0003c0003t0002g0046 a0003c0003t0002g0303	2	392	0.0051	50	c.161 others(69): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATATATATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(43): Show GTGTGTATGTATGTATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0039 a0003c0003t0002g0039	1	392	0.0026	50	c.161 others(69): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATATACATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039322	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATACTGATGTATATATATACT G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0150 a0004c0004t0001g0150	1	296	0.0034	50	c.180 others(69): Show c.1803+1153_1803+1154insTATATATATATATATATATACTGATG TATATATATACTGATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXorf49_chrX_71709371_71723285	71710916	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCATATGTGACAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	73	0.0137	50	c.36 others(61): Show c.3629_*3630insTCTGTCACATATGCGCGCGCGCACACACACACAC ACACACACACACACAC	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3454		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71710916	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTGCGCATATGTGACAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0014 a0014	a0014c0004 a0014c0004	a0014c0004t0001 a0014c0004t0001	a0014c0004t0001g0008 a0014c0004t0001g0008	1	73	0.0137	50	c.36 others(61): Show c.3629_*3630insTCTGTCACATATGCGCACGCGCACACACACACAC ACACACACACACACAC	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3454		chrX	TogoVar
CYBA_chr16_88638289_88656053	88646304	T T	TGCAGACC others(43): Show TGCAGACCCAGGGGACGTGTGCGGACCGGGGCTGCAAAGTCTCAGCACAA G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(99): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03098.hp1 HG03239.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18970.hp2 NA18981.hp1 NA18986.hp1 NA18991.hp2 NA18998.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0013 others(1): Show a0001c0001 a0002c0002 a0004c0013 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0004c0013t0003 a0006c0010t0003	a0001c0001t0001g0083 a0001c0001t0002g0116 a0001c0001t0002g0117 others(45): Show a0001c0001t0001g0083 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0129 a0002c0002t0003g0005 a0002c0002t0003g0007 a0002c0002t0003g0015 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0027 a0002c0002t0003g0029 a0002c0002t0003g0039 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0059 a0002c0002t0003g0070 a0002c0002t0003g0074 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0080 a0002c0002t0003g0082 a0002c0002t0003g0087 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0110 a0002c0002t0003g0112 a0002c0002t0003g0119 a0002c0002t0003g0123 a0002c0002t0003g0128 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0144 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0160 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0182 a0002c0002t0003g0185 a0002c0002t0004g0061 a0004c0013t0003g0077 a0006c0010t0003g0130	102	460	0.2217	50	c.288 others(65): Show c.288-108_288-107insCTTGTGCTGAGACTTTGCAGCCCCGGTCCG CACACGTCCCCTGGGTCTGC	CYBA	ENSG00000051523.12	transcript	ENST00000261623.8	protein_coding	4/5			chr16	TogoVar
CYBA_chr16_88638289_88656053	88646325	C C	CGGACCGG others(43): Show CGGACCGGGGCTGCAAAGTCTCAGCACAAGGCAGACCCAGGGGACGTGCG T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(252): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0001c0005 a0001c0007 others(5): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0003c0003 a0005c0008 a0007c0009 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0005c0008t0002 a0007c0009t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0005g0193 a0001c0005t0001g0040 a0001c0005t0001g0058 a0001c0005t0001g0191 a0001c0007t0001g0062 a0002c0002t0001g0106 a0002c0002t0003g0079 a0002c0002t0003g0084 a0002c0002t0003g0095 a0002c0002t0003g0099 a0002c0002t0003g0177 a0003c0003t0001g0103 a0005c0008t0002g0113 a0007c0009t0001g0172 a0008c0011t0001g0068	255	460	0.5544	50	c.288 others(65): Show c.288-129_288-128insACGCACGTCCCCTGGGTCTGCCTTGTGCTG AGACTTTGCAGCCCCGGTCC	CYBA	ENSG00000051523.12	transcript	ENST00000261623.8	protein_coding	4/5			chr16	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(43): Show CATACATACATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG02723.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0010 a0002c0004t0031 a0001c0002t0010 a0002c0004t0031	a0001c0002t0010g0299 a0002c0004t0031g0052 a0001c0002t0010g0299 a0002c0004t0031g0052	2	342	0.0059	50	c.304 others(67): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATATATATATATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYLC2_chr9_102990333_103023488	102996196	A A	AGTTTCTA others(43): Show AGTTTCTAATTTCTTTTTAAGGTACGTTTAAAGTTTTAGTTCTATTGTGT T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0079 a0001c0001t0007g0079	1	448	0.0022	50	c.17+ others(63): Show c.17+799_17+800insGTTTCTAATTTCTTTTTAAGGTACGTTTAAAG TTTTAGTTCTATTGTGTT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	1/7			chr9	TogoVar
CYLC2_chr9_102990333_103023488	103015078	A A	AATATACA others(43): Show AATATACATAACATGTATATCACGTGATATACATAACATGTATATCACGT G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0062 a0001c0001t0018g0062	2	448	0.0045	50	c.81 others(69): Show c.817-1724_*817-1675dupCATGTATATCACGTGATATACATAAC ATGTATATCACGTGATATACATAA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP20A1_chr2_203234018_203311026	203257939	T T	TTGCCTGG others(43): Show TTGCCTGGGCTCAAGTGCAGTGGCACAATTATAGCTCACTGGAGCATCGA A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02622.hp2 HG03139.hp1 others(1): Show HG01261.hp1 HG02622.hp2 HG03139.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0005 a0002c0002t0131 a0004c0004t0005 others(1): Show a0002c0002t0005 a0002c0002t0131 a0004c0004t0005 a0004c0004t0133	a0002c0002t0005g0274 a0002c0002t0131g0181 a0004c0004t0005g0031 others(1): Show a0002c0002t0005g0274 a0002c0002t0131g0181 a0004c0004t0005g0031 a0004c0004t0133g0032	4	334	0.0120	50	c.432 others(67): Show c.432+5832_432+5881dupGCCTGGGCTCAAGTGCAGTGGCACAATT ATAGCTCACTGGAGCATCGAAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(43): Show ATATATGTATATATATATATATATATATATACGTGTGTGTATATATATAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	374	0.0027	50	c.-40 others(61): Show c.-4027_-4026insTATATGTATATATATATATATATATATATACGTG TGTGTATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03927.hp2 HG01257.hp1 HG01258.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0118 a0001c0001t0002g0034 a0001c0001t0002g0118	3	382	0.0079	50	c.491 others(65): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4F11_chr19_15907377_15939529	15928777	A A	ATCTCCTA others(43): Show ATCTCCTACTGGAGATTGCTGGGGCCTGGAGCAGGAGAGCCATGAGTAGG G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0164 a0002c0001t0164	a0002c0001t0164g0316 a0002c0001t0164g0316	1	386	0.0026	50	c.343 others(65): Show c.343+679_343+680insCCCTACTCATGGCTCTCCTGCTCCAGGCCC CAGCAATCTCCAGTAGGAGA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	2/11			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650799	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTCTCTCTTCT T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	424	0.0024	50	c.918 others(65): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCTCTCTCTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18998.hp2 NA18968.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0063 a0001c0001t0001g0083	2	288	0.0069	50	c.-13 others(71): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269053	A A	AATATATA others(43): Show AATATATAATATATATTATATATTATATATATTATATAATATATATAATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	240	0.0042	50	c.36 others(61): Show c.3679_*3680insATATTATATATATTATATAATATATATAATATAT AATATATATTATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2414		chrX	TogoVar
CYSLTR2_chr13_48648929_48716226	48715871	A A	AAAAAAAA others(43): Show AAAAAAAAAAATAAAAAAAAAATAAAAAAAAAAAAAAAAAGAAACAAAAA G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0252 a0001c0001t0017g0252	1	318	0.0031	50	c.80 others(61): Show c.8013_*8014insAAAAAAAAAATAAAAAAAAAATAAAAAAAAAAAA AAAAAGAAACAAAAAG	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding		4646		chr13	TogoVar
D2HGDH_chr2_241729630_241773811	241764318	G G	GCAGCTAC others(43): Show GCAGCTACAGACAGATTAACAGGAGAAATAACAGAGGCTCATGACGTGCA T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0072 a0001c0001t0022g0072	1	412	0.0024	50	c.130 others(69): Show c.1307-3391_1307-3342dupCAGCTACAGACAGATTAACAGGAGAA ATAACAGAGGCTCATGACGTGCAT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765455	C C	CTTGGGGA others(43): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0036 a0004c0005t0024g0036	1	412	0.0024	50	c.130 others(69): Show c.1307-2225_1307-2224insGTAGGAAGAGGGGGGAGAAGTTGGGG AGATGGGAGCCCCGGGCTGAGGGA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765705	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03239.hp1 NA19079.hp2 HG02738.hp1 HG03239.hp1 NA19079.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0031 a0003c0003t0014 a0004c0005t0012 a0001c0001t0031 a0003c0003t0014 a0004c0005t0012	a0001c0001t0031g0164 a0003c0003t0014g0322 a0004c0005t0012g0220 a0001c0001t0031g0164 a0003c0003t0014g0322 a0004c0005t0012g0220	3	412	0.0073	50	c.130 others(69): Show c.1307-1956_1307-1955insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765805	G G	CTTGGGGA others(43): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03942.hp1 HG03710.hp2 HG03942.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0005 a0004c0005t0005 a0003c0003t0005 a0004c0005t0005	a0003c0003t0005g0362 a0004c0005t0005g0071 a0003c0003t0005g0362 a0004c0005t0005g0071	2	412	0.0049	50	c.130 others(69): Show c.1307-1906_1307-1905insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765855	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02559.hp1 HG02723.hp1 others(2): Show HG01106.hp2 HG02559.hp1 HG02723.hp1 HG03195.hp1 NA20300.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0016 a0005c0004 a0004c0005 a0004c0016 a0005c0004	a0004c0005t0005 a0004c0016t0012 a0005c0004t0005 a0004c0005t0005 a0004c0016t0012 a0005c0004t0005	a0004c0005t0005g0213 a0004c0016t0012g0277 a0004c0016t0012g0281 others(1): Show a0004c0005t0005g0213 a0004c0016t0012g0277 a0004c0016t0012g0281 a0005c0004t0005g0024	5	412	0.0121	50	c.130 others(69): Show c.1307-1806_1307-1805insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766055	C C	CTTGGGGA others(43): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0318 a0003c0003t0010g0318	1	412	0.0024	50	c.130 others(69): Show c.1307-1628_1307-1627insGGAGTAGGAAGAGGGGGGAGAAGTTG GGGAGATGGGAGCCCCGGGCTGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766205	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01243.hp1 others(16): Show HG00423.hp1 HG01070.hp1 HG01243.hp1 HG02040.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03516.hp1 HG03688.hp1 HG03710.hp2 HG04204.hp2 NA18939.hp2 NA18946.hp2 NA18952.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19070.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004	a0001c0001t0005 a0001c0001t0031 a0002c0002t0005 others(9): Show a0001c0001t0005 a0001c0001t0031 a0002c0002t0005 a0002c0002t0012 a0003c0003t0005 a0003c0003t0010 a0003c0003t0014 a0004c0005t0005 a0004c0005t0012 a0004c0005t0024 a0004c0005t0047 a0005c0004t0045	a0001c0001t0005g0006 a0001c0001t0031g0164 a0002c0002t0005g0140 others(15): Show a0001c0001t0005g0006 a0001c0001t0031g0164 a0002c0002t0005g0140 a0002c0002t0012g0227 a0003c0003t0005g0022 a0003c0003t0005g0335 a0003c0003t0005g0355 a0003c0003t0005g0362 a0003c0003t0010g0329 a0003c0003t0010g0330 a0003c0003t0010g0332 a0003c0003t0010g0333 a0003c0003t0014g0319 a0004c0005t0005g0210 a0004c0005t0012g0219 a0004c0005t0024g0036 a0004c0005t0047g0056 a0005c0004t0045g0357	19	412	0.0461	50	c.130 others(69): Show c.1307-1456_1307-1455insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766255	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04228.hp1 HG00408.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0005 a0003c0008t0005 a0003c0003t0005 a0003c0008t0005	a0003c0003t0005g0364 a0003c0008t0005g0338 a0003c0003t0005g0364 a0003c0008t0005g0338	2	412	0.0049	50	c.130 others(69): Show c.1307-1406_1307-1405insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766282	G G	GGGAGTAG others(43): Show GGGAGTAGGAAGAGGGGGGAGAAGCTTGGGGAGATGGGAGCCCCGGGCTG A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0074 a0004c0005t0050g0074	1	412	0.0024	50	c.130 others(69): Show c.1307-1405_1307-1404insCTTGGGGAGATGGGAGCCCCGGGCTG AGGAGTAGGAAGAGGGGGGAGAAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766355	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGTGGAGAA C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19079.hp2 NA19065.hp1 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0014 a0003c0003t0005 a0003c0003t0014	a0003c0003t0005g0334 a0003c0003t0014g0322 a0003c0003t0005g0334 a0003c0003t0014g0322	2	412	0.0049	50	c.130 others(69): Show c.1307-1355_1307-1354insTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGTGGAGAAC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766448	G G	GGGAGAAG others(43): Show GGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGG T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0326 a0005c0004t0005g0326	1	412	0.0024	50	c.130 others(69): Show c.1307-1256_1307-1255insGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGTGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766497	G G	GGGGAGAA others(43): Show GGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGG T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19005.hp1 NA19079.hp2 NA18972.hp1 NA19005.hp1 NA19079.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0014 a0004c0005t0014 a0003c0003t0014 a0004c0005t0014	a0003c0003t0014g0319 a0003c0003t0014g0322 a0004c0005t0014g0103 a0003c0003t0014g0319 a0003c0003t0014g0322 a0004c0005t0014g0103	3	412	0.0073	50	c.130 others(69): Show c.1307-1164_1307-1163insTGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766505	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0338 a0003c0008t0005g0338	1	412	0.0024	50	c.130 others(69): Show c.1307-1156_1307-1155insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766547	G G	GGGGAGAA others(43): Show GGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGG T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0074 a0004c0005t0050g0074	1	412	0.0024	50	c.130 others(69): Show c.1307-1114_1307-1113insTGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766548	G G	TGGAGAAC others(43): Show TGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGG G	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20300.hp2 HG01106.hp2 NA20300.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0012 a0004c0016t0012	a0004c0016t0012g0277 a0004c0016t0012g0281 a0004c0016t0012g0277 a0004c0016t0012g0281	2	412	0.0049	50	c.130 others(69): Show c.1307-1163_1307-1162insTGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766797	G G	GGGGAGAA others(43): Show GGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGG T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0338 a0003c0008t0005g0338	1	412	0.0024	50	c.130 others(67): Show c.1307-906_1307-905insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGTGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766801	A A	AGAAGTTG others(43): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0319 a0003c0003t0014g0319	1	412	0.0024	50	c.130 others(67): Show c.1307-906_1307-905insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766951	A A	AGAAGTTG others(43): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0326 a0005c0004t0005g0326	1	412	0.0024	50	c.130 others(67): Show c.1307-710_1307-709insGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767051	A A	AGAAGTTG others(43): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0024 a0005c0004t0005g0024	2	412	0.0049	50	c.130 others(67): Show c.1307-610_1307-609insGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767101	A A	AGAAGTTG others(43): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0140 a0002c0002t0005g0140	1	412	0.0024	50	c.130 others(67): Show c.1307-560_1307-559insGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767151	A A	AGAAGTTG others(43): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18957.hp1 HG02723.hp1 NA18957.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0010 a0004c0005t0005 a0003c0003t0010 a0004c0005t0005	a0003c0003t0010g0318 a0004c0005t0005g0213 a0003c0003t0010g0318 a0004c0005t0005g0213	2	412	0.0049	50	c.130 others(67): Show c.1307-510_1307-509insGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767455	G G	GTTGGGGA others(43): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0321 a0003c0003t0024g0321	1	412	0.0024	50	c.130 others(67): Show c.1307-245_1307-196dupTGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATACATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	298	0.0034	50	c.184 others(67): Show c.184-1433_184-1432insTATATATATATATACATATATATATATA TATATATATATATATATATATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0170 a0001c0001t0055g0170	1	298	0.0034	50	c.184 others(67): Show c.184-1433_184-1432insTATATATATATATATATATATATATATA TATATATATATATATATATATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57367043	C C	CAAAATAA others(43): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	138	0.0073	50	c.-13 others(71): Show c.-137+56837_-137+56886dupATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar

Search by Variant

Search

Search Results