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
UGT2A2_chr4_69583417_69644642	69635828	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	55	0.0182	20	c.742 others(37): Show c.742+3051_742+3070dupTTTTTTTTTTTTTTTTTTTT	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
UGT2A3_chr4_68923463_68956804	68942504	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18957.hp1 NA18992.hp2 HG00140.hp2 NA18957.hp1 NA18992.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0260 a0002c0001t0001g0280 a0002c0001t0001g0301 a0002c0001t0001g0260 a0002c0001t0001g0280 a0002c0001t0001g0301	3	47	0.0638	20	c.864 others(37): Show c.864+2782_864+2801dupATATATATATATATATATAT	UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	2/5			chr4	TogoVar
UGT2B28_chr4_69275475_69300050	69295944	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA19009.hp1 NA18967.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	70	0.0286	20	c.11 others(31): Show c.1135_*1136insTGTATATATATATATATATA	UGT2B28	ENSG00000135226.18	transcript	ENST00000335568.10	protein_coding		895		chr4	TogoVar
UGT2B4_chr4_69475165_69500905	69477331	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG01515.hp2 others(6): Show HG01109.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02451.hp2 HG02717.hp1 HG02976.hp1 NA20752.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0007 a0002c0002 a0003c0004 a0005c0007	a0002c0002t0003 a0003c0004t0003 a0005c0007t0003 a0002c0002t0003 a0003c0004t0003 a0005c0007t0003	a0002c0002t0003g0039 a0002c0002t0003g0062 a0002c0002t0003g0063 others(4): Show a0002c0002t0003g0039 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0003c0004t0003g0027 a0005c0007t0003g0038	9	202	0.0446	20	c.33 others(31): Show c.3302_*3303insTATATATATATATATATATA	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		2833		chr4	TogoVar
UGT2B4_chr4_69475165_69500905	69500602	C C	CAAGAAAG others(13): Show CAAGAAAGCAAGAAAGCAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01192.hp2 others(15): Show HG00741.hp1 HG01167.hp2 HG01192.hp2 HG01358.hp1 HG01361.hp1 HG02818.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp1 NA18941.hp2 NA18946.hp1 NA18965.hp2 NA18972.hp2 NA19000.hp2 NA19054.hp2 NA19077.hp1 NA19082.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0003t0001g0014	18	323	0.0557	20	c.-47 others(31): Show c.-4742_-4741insTCTTGCTTTCTTGCTTTCTT	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4698		chr4	TogoVar
UGT2B4_chr4_69475165_69500905	69500606	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02280.hp2 HG02572.hp2 HG01106.hp1 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0003g0049 a0001c0001t0004g0111 a0001c0001t0002g0001 a0001c0001t0003g0049 a0001c0001t0004g0111	3	119	0.0252	20	c.-47 others(31): Show c.-4765_-4746dupTCTTTCTTTCTTTCTTTCTT	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4702		chr4	TogoVar
UGT2B4_chr4_69475165_69500905	69500666	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01081.hp1 others(6): Show HG00323.hp2 HG00738.hp1 HG01081.hp1 HG02071.hp1 HG02922.hp1 HG03516.hp2 HG04204.hp1 NA18906.hp1 NA18968.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0005 a0001c0001 a0002c0002 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0007c0005t0001	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0003 others(6): Show a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0030 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0065 a0007c0005t0001g0058	9	389	0.0231	20	c.-48 others(31): Show c.-4806_-4805insCCTTTCTTTCTTTCTTTCTT	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4762		chr4	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	242	0.0041	20	c.-10 others(31): Show c.-1053_-1034dupTCTCTCTCTCTCTCTCTCTC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02602.hp2 HG02615.hp2 others(2): Show HG01257.hp2 HG02602.hp2 HG02615.hp2 HG03834.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0116 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0116 a0001c0001t0002g0122	5	319	0.0157	20	c.-10 others(31): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068938	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02132.hp1 HG02818.hp1 others(8): Show HG02040.hp1 HG02132.hp1 HG02818.hp1 NA18945.hp1 NA18971.hp2 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA19007.hp2 NA19011.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0011 a0001c0001t0002 a0003c0003t0011	a0001c0001t0002g0002 a0001c0001t0002g0013 a0003c0003t0011g0093 a0001c0001t0002g0002 a0001c0001t0002g0013 a0003c0003t0011g0093	11	123	0.0894	20	c.-21 others(31): Show c.-2150_-2149insTTCCTTCCTTCCTTCCCTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2057		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068938	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02965.hp1 others(2): Show HG01243.hp1 HG02258.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0148 a0001c0001t0003g0025 a0001c0001t0009g0147 a0001c0001t0002g0148 a0001c0001t0003g0025 a0001c0001t0009g0147	5	117	0.0427	20	c.-21 others(31): Show c.-2150_-2149insTTCCTTCCTTCCCTCCCTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2057		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068950	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 NA18963.hp2 HG01515.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	326	0.0061	20	c.-21 others(31): Show c.-2162_-2161insGTCCTTCCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2069		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068954	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01255.hp2 others(5): Show HG01081.hp1 HG01099.hp2 HG01255.hp2 HG02055.hp2 NA18946.hp2 NA18951.hp2 NA18959.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0002g0037 a0001c0001t0002g0103	8	393	0.0204	20	c.-21 others(31): Show c.-2166_-2165insGTCCTTCCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2073		chr5	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02080.hp2 HG03130.hp1 HG01109.hp2 HG02080.hp2 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0019 a0001c0035 a0001c0011 a0001c0019 a0001c0035	a0001c0011t0006 a0001c0019t0020 a0001c0035t0033 a0001c0011t0006 a0001c0019t0020 a0001c0035t0033	a0001c0011t0006g0231 a0001c0019t0020g0201 a0001c0035t0033g0267 a0001c0011t0006g0231 a0001c0019t0020g0201 a0001c0035t0033g0267	3	95	0.0316	20	c.786 others(37): Show c.786-2786_786-2767dupTTTTTTTTTTTTTTTTTTTT	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UHRF2_chr9_6408199_6512054	6469681	T T	TATATATA others(13): Show TATATATATACACGTATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00735.hp2 others(97): Show HG00597.hp2 HG00609.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01192.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18970.hp1 NA18972.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19058.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0026 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0209 a0001c0001t0001g0267 a0001c0001t0001g0307 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0251 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0017 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0137	100	296	0.3378	20	c.864 others(37): Show c.864-5706_864-5687dupTATATACACGTATATACATA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UHRF2_chr9_6408199_6512054	6487182	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	127	0.0079	20	c.149 others(37): Show c.1497+263_1497+282dupTTTTTTTTTTTTTTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176914039	C C	CACCATAC others(13): Show CACCATACCATACCATACCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	105	0.0095	20	c.159 others(39): Show c.1598-2670_1598-2651dupATGGTATGGTATGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCACAC others(13): Show TACCACACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01109.hp2 others(16): Show HG00673.hp2 HG00733.hp2 HG01109.hp2 HG01515.hp2 HG01517.hp2 HG02257.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04184.hp1 HG06807.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0168 others(16): Show a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0168 a0003c0004t0001g0169 a0003c0004t0001g0172 a0003c0004t0001g0174 a0003c0004t0001g0176 a0003c0004t0001g0177 a0003c0004t0001g0181 a0003c0004t0001g0184 a0003c0004t0001g0185 a0003c0004t0001g0186 a0003c0004t0001g0193 a0003c0004t0001g0194 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0002g0003 a0003c0004t0002g0004	19	298	0.0638	20	c.159 others(39): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTGTGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCATAC others(13): Show TACCATACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02965.hp1 others(3): Show HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03471.hp1 HG03516.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0171 a0003c0004t0001g0180 a0003c0004t0001g0191 others(3): Show a0003c0004t0001g0171 a0003c0004t0001g0180 a0003c0004t0001g0191 a0003c0006t0001g0015 a0003c0006t0001g0016 a0003c0006t0001g0022	6	285	0.0211	20	c.159 others(39): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCATAC others(13): Show TACCATACCATACCACACCAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02622.hp2 others(4): Show HG01167.hp1 HG01891.hp1 HG02622.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0013 a0003c0006t0001g0014 a0003c0006t0001g0017 others(4): Show a0003c0006t0001g0013 a0003c0006t0001g0014 a0003c0006t0001g0017 a0003c0006t0001g0018 a0003c0006t0001g0019 a0003c0006t0001g0020 a0003c0006t0001g0021	7	286	0.0245	20	c.159 others(39): Show c.1598-2681_1598-2680insGTGGTGTGGTATGGTATGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176914084	C C	CACCACAC others(13): Show CACCACACCACACCACACCAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0190 a0003c0004t0001g0190	1	316	0.0032	20	c.159 others(39): Show c.1598-2696_1598-2695insATGGTGTGGTGTGGTGTGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176953495	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG03017.hp2 others(4): Show HG02622.hp1 HG02723.hp2 HG03017.hp2 HG03139.hp2 HG03516.hp2 HG04184.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0004 a0001c0008 a0003c0004	a0001c0008t0001 a0003c0004t0001 a0003c0004t0002 a0001c0008t0001 a0003c0004t0001 a0003c0004t0002	a0001c0008t0001g0024 a0001c0008t0001g0025 a0003c0004t0001g0168 others(4): Show a0001c0008t0001g0024 a0001c0008t0001g0025 a0003c0004t0001g0168 a0003c0004t0001g0177 a0003c0004t0001g0186 a0003c0004t0001g0191 a0003c0004t0002g0004	7	136	0.0515	20	c.134 others(39): Show c.1340-1938_1340-1919dupGTGTGTGTGTGTGTGTGTGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	8/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	177000498	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp2 HG02109.hp2 others(5): Show HG00673.hp2 HG02055.hp2 HG02109.hp2 HG02622.hp1 HG02922.hp2 HG03195.hp1 HG03516.hp2 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0168 a0003c0004t0001g0171 a0003c0004t0001g0172 others(5): Show a0003c0004t0001g0168 a0003c0004t0001g0171 a0003c0004t0001g0172 a0003c0004t0001g0173 a0003c0004t0001g0174 a0003c0004t0001g0175 a0003c0004t0001g0191 a0003c0004t0002g0003	8	280	0.0286	20	c.-9+ others(35): Show c.-9+6151_-9+6152insAAAAAAAAAAAAAAAAAAAA	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14			chr5	TogoVar
ULBP2_chr6_149937014_149954235	149941524	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	128	0.0078	20	c.-54 others(29): Show c.-549_-548insTAAATAAATAAATAAATAAA	ULBP2	ENSG00000131015.5	transcript	ENST00000367351.4	protein_coding		489		chr6	TogoVar
ULBP3_chr6_150056053_150074121	150071328	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02886.hp2 NA18522.hp1 HG02280.hp2 HG02886.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	3	192	0.0156	20	c.-22 others(31): Show c.-2263_-2262insAAAAAAAAAAAAAAAAAAAA	ULBP3	ENSG00000131019.11	transcript	ENST00000367339.7	protein_coding		2208		chr6	TogoVar
ULK1_chr12_131889622_131928150	131917283	G G	GGAGGCTG others(13): Show GGAGGCTGTGGGATGGGGCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02818.hp1 NA18946.hp2 others(3): Show HG00099.hp2 HG02818.hp1 NA18946.hp2 NA19079.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0137 a0001c0001t0002g0167 others(3): Show a0001c0001t0001g0201 a0001c0001t0002g0137 a0001c0001t0002g0167 a0001c0001t0002g0206 a0001c0001t0002g0270 a0001c0001t0002g0271	6	333	0.0180	20	c.218 others(37): Show c.2183-116_2183-115insTGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK2_chr17_19765830_19872936	19777077	G G	GTATCTAC others(13): Show GTATCTACCTACCTACCTACC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	286	0.0035	20	c.305 others(37): Show c.3052+484_3052+503dupGGTAGGTAGGTAGGTAGATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	26/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814404	T T	TTATATAC others(13): Show TTATATACATATATATACATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0045 a0001c0011t0045	a0001c0011t0045g0052 a0001c0011t0045g0052	1	286	0.0035	20	c.109 others(39): Show c.1096+2344_1096+2345insTATGTATATATATGTATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814438	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19010.hp2 NA18971.hp1 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0007 a0001c0004t0004g0011 a0001c0004t0004g0007 a0001c0004t0004g0011	2	109	0.0183	20	c.109 others(39): Show c.1096+2310_1096+2311insAAAAAATATATATATATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814438	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0006 a0001c0004t0004g0006	1	108	0.0093	20	c.109 others(39): Show c.1096+2310_1096+2311insAAAAAAAATATATATATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19825993	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	215	0.0047	20	c.835 others(35): Show c.835+145_835+146insATTTATTTATTTATTTATTT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	11/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19825997	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03710.hp1 HG00621.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0230 a0001c0001t0001g0180 a0001c0001t0001g0230	2	120	0.0167	20	c.835 others(35): Show c.835+141_835+142insATTTATTTATTTATTTATTT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	11/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19860135	G G	GGTTATAG others(13): Show GGTTATAGATTGATATATGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(105): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02896.hp1 HG02976.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0003 a0001c0004 a0001c0006 others(6): Show a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0014 a0002c0002 a0002c0009 a0004c0008 a0007c0012	a0001c0003t0003 a0001c0003t0008 a0001c0003t0026 others(23): Show a0001c0003t0003 a0001c0003t0008 a0001c0003t0026 a0001c0003t0027 a0001c0003t0028 a0001c0003t0029 a0001c0003t0030 a0001c0003t0046 a0001c0003t0050 a0001c0003t0055 a0001c0004t0004 a0001c0004t0011 a0001c0006t0005 a0001c0011t0045 a0001c0014t0025 a0002c0002t0002 a0002c0002t0012 a0002c0002t0020 a0002c0002t0021 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0009t0047 a0002c0009t0051 a0004c0008t0002 a0007c0012t0048	a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 others(105): Show a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 a0001c0003t0008g0046 a0001c0003t0026g0047 a0001c0003t0027g0042 a0001c0003t0028g0023 a0001c0003t0029g0041 a0001c0003t0030g0049 a0001c0003t0046g0065 a0001c0003t0050g0063 a0001c0003t0055g0001 a0001c0004t0004g0005 a0001c0004t0004g0006 a0001c0004t0004g0007 a0001c0004t0004g0008 a0001c0004t0004g0009 a0001c0004t0004g0010 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0011g0014 a0001c0004t0011g0015 a0001c0004t0011g0016 a0001c0006t0005g0054 a0001c0006t0005g0055 a0001c0006t0005g0056 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0060 a0001c0011t0045g0052 a0001c0014t0025g0048 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0012g0247 a0002c0002t0012g0248 a0002c0002t0012g0252 a0002c0002t0020g0237 a0002c0002t0020g0238 a0002c0002t0021g0277 a0002c0002t0021g0284 a0002c0002t0052g0250 a0002c0002t0053g0258 a0002c0002t0054g0288 a0002c0009t0047g0051 a0002c0009t0051g0050 a0004c0008t0002g0244 a0004c0008t0002g0266 a0004c0008t0002g0281 a0007c0012t0048g0053	108	285	0.3789	20	c.225 others(37): Show c.225+4667_225+4668insTACATATATCAATCTATAAC	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	3/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41311960	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02451.hp1 HG02572.hp2 others(1): Show HG01934.hp2 HG02451.hp1 HG02572.hp2 NA18522.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0006 others(1): Show a0001c0001 a0002c0004 a0005c0006 a0005c0013	a0001c0001t0001 a0002c0004t0002 a0005c0006t0004 others(1): Show a0001c0001t0001 a0002c0004t0002 a0005c0006t0004 a0005c0013t0002	a0001c0001t0001g0040 a0002c0004t0002g0015 a0005c0006t0004g0002 others(1): Show a0001c0001t0001g0040 a0002c0004t0002g0015 a0005c0006t0004g0002 a0005c0013t0002g0016	4	50	0.0800	20	c.367 others(41): Show c.3679-62406_3679-62387dupATAAAATAAAATAAAATAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41602251	A A	AAAAGGAA others(13): Show AAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02818.hp2 HG01243.hp2 HG02615.hp2 HG02818.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0004c0002t0002 a0001c0001t0001 a0004c0002t0002	a0001c0001t0001g0054 a0004c0002t0002g0007 a0004c0002t0002g0008 a0001c0001t0001g0054 a0004c0002t0002g0007 a0004c0002t0002g0008	3	13	0.2308	20	c.312 others(41): Show c.3120+13398_3120+13417dupCCTTTCCTTTCCTTTCCTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	8	0.1250	20	c.307 others(39): Show c.3071+5788_3071+5789insTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41658735	A A	ACACACAC others(13): Show ACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	62	0.0161	20	c.307 others(39): Show c.3071+4871_3071+4872insAGAGTGTGTGTGTGTGTGTG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41831531	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0017 a0017	a0017c0012 a0017c0012	a0017c0012t0001 a0017c0012t0001	a0017c0012t0001g0063 a0017c0012t0001g0063	1	54	0.0185	20	c.176 others(39): Show c.1764+4332_1764+4333insAAAAAAAATATATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	18/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01515.hp2 HG01934.hp1 others(4): Show HG01081.hp1 HG01515.hp2 HG01934.hp1 HG02572.hp1 HG02615.hp1 HG02735.hp2 HG02896.hp1	a0001 a0006 a0012 others(1): Show a0001 a0006 a0012 a0015	a0001c0001 a0006c0007 a0012c0020 others(1): Show a0001c0001 a0006c0007 a0012c0020 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 a0012c0020t0001 a0015c0023t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0003g0072 a0006c0007t0001g0025 a0012c0020t0001g0037 a0015c0023t0001g0024	7	22	0.3182	20	c.118 others(37): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7693295	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02559.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0036 a0001c0001t0020 a0001c0001t0036	a0001c0001t0020g0151 a0001c0001t0036g0231 a0001c0001t0020g0151 a0001c0001t0036g0231	2	20	0.1000	20	c.82+ others(37): Show c.82+19865_82+19884dupTCTATCTATCTATCTATCTA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0165 a0001c0001t0058g0165	1	147	0.0068	20	c.83- others(37): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02630.hp1 HG02647.hp1 others(4): Show HG02080.hp1 HG02630.hp1 HG02647.hp1 NA18988.hp1 NA19009.hp1 NA19057.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0071 a0001c0001t0075	a0001c0001t0002g0073 a0001c0001t0006g0170 a0001c0001t0007g0071 others(4): Show a0001c0001t0002g0073 a0001c0001t0006g0170 a0001c0001t0007g0071 a0001c0001t0011g0045 a0001c0001t0018g0106 a0001c0001t0071g0004 a0001c0001t0075g0016	7	76	0.0921	20	c.83- others(37): Show c.83-24087_83-24068dupATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG03491.hp1 others(2): Show HG02451.hp2 HG02965.hp2 HG03491.hp1 NA19090.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0040 a0001c0001t0055	a0001c0001t0001g0114 a0001c0001t0003g0201 a0001c0001t0010g0100 others(2): Show a0001c0001t0001g0114 a0001c0001t0003g0201 a0001c0001t0010g0100 a0001c0001t0040g0005 a0001c0001t0055g0237	5	30	0.1667	20	c.83- others(35): Show c.83-5421_83-5402dupTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42069229	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01346.hp2 HG02080.hp2 others(3): Show HG00738.hp2 HG01346.hp2 HG02080.hp2 HG02615.hp1 NA18998.hp2 NA20752.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0011 a0028	a0001c0001 a0003c0051 a0004c0185 others(2): Show a0001c0001 a0003c0051 a0004c0185 a0011c0010 a0028c0050	a0001c0001t0001 a0001c0001t0004 a0003c0051t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0003c0051t0001 a0004c0185t0021 a0011c0010t0009 a0028c0050t0003	a0001c0001t0001g0180 a0001c0001t0004g0113 a0003c0051t0001g0082 others(3): Show a0001c0001t0001g0180 a0001c0001t0004g0113 a0003c0051t0001g0082 a0004c0185t0021g0093 a0011c0010t0009g0028 a0028c0050t0003g0147	6	96	0.0625	20	c.-20 others(31): Show c.-2088_-2087insACACACACACACACACACAC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		2087		chr21	TogoVar
UMOD_chr16_20328051_20357715	20343151	A A	ATAAATAA others(13): Show ATAAATAAATAAATAAATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0145	1	380	0.0026	20	c.133 others(37): Show c.1331+872_1331+873insATTATTTATTTATTTATTTA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	6/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02818.hp2 NA21309.hp2 HG01981.hp2 HG02818.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0239 a0001c0004t0001g0145 a0001c0004t0001g0250 a0001c0002t0001g0239 a0001c0004t0001g0145 a0001c0004t0001g0250	3	335	0.0090	20	c.118 others(37): Show c.1182+706_1182+725dupGAAAGAAAGAAAGAAAGAAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345480	T T	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(41): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00673.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG02027.hp2 HG02129.hp1 HG02145.hp2 HG02300.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 NA18973.hp2 NA18985.hp1 NA18991.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19080.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0011 a0002c0006 others(1): Show a0001c0001 a0001c0011 a0002c0006 a0007c0015	a0001c0001t0001 a0001c0011t0001 a0002c0006t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0002c0006t0001 a0007c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0011t0001g0156 a0002c0006t0001g0097 a0007c0015t0001g0083	44	266	0.1654	20	c.118 others(37): Show c.1182+626_1182+645dupGGGAGGGAGGGAGGGAGGGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345480	T T	TTCCTTCC others(13): Show TTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01517.hp1 HG01109.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	224	0.0089	20	c.118 others(37): Show c.1182+645_1182+646insGGGAGGGAGGGAGGGAAGGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG04199.hp2 NA20805.hp2 HG00099.hp2 HG04199.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0006 a0001c0004t0001 a0001c0004t0006	a0001c0004t0001g0015 a0001c0004t0001g0147 a0001c0004t0006g0146 a0001c0004t0001g0015 a0001c0004t0001g0147 a0001c0004t0006g0146	3	318	0.0094	20	c.118 others(37): Show c.1182+623_1182+624insAAGGAAGGAAGGGAGGGAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01169.hp2 others(7): Show HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG02148.hp1 HG02300.hp2 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0015 a0001c0004t0001g0032 a0001c0004t0001g0004 a0001c0004t0001g0015 a0001c0004t0001g0032	10	325	0.0308	20	c.118 others(37): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGGAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar

Search by Variant

Search

Search Results