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
RASA3_chr13_113972783_114137623	114133168	T T	TCCCCCCC others(36): Show TCCCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	40	0.0250	43	c.-68 others(52): Show c.-680_-679insGAGACCTGCCCATGCCGGGGTCTGCAGGGGGACTGG GGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		546		chr13	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	45	0.0222	43	c.-7+ others(58): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(36): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03471.hp1 HG01952.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0288 a0001c0001t0005g0292 a0001c0001t0001g0288 a0001c0001t0005g0292	2	24	0.0833	43	c.-35 others(54): Show c.-3577_-3576insTATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(36): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	23	0.0435	43	c.-35 others(54): Show c.-3577_-3576insTATATATATATATATTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7217059	C C	CCCTCCCT others(36): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02559.hp2 HG03209.hp1 others(2): Show HG02148.hp1 HG02559.hp2 HG03209.hp1 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0035 a0001c0001t0036	a0001c0001t0003g0050 a0001c0001t0006g0038 a0001c0001t0019g0055 others(2): Show a0001c0001t0003g0050 a0001c0001t0006g0038 a0001c0001t0019g0055 a0001c0001t0035g0065 a0001c0001t0036g0032	5	63	0.0794	43	c.27+ others(62): Show c.27+164961_27+164962insCCTCCCTCCCTCCCTCCCTCCCTCCC TCTCTCTCCCTCTCCTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79151937	G G	GGGGGAGG others(36): Show GGGGGAGGAGGGGAGGCGATGGGAGGGGACCTACAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(80): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(80): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0097 a0001c0001t0004g0105 a0001c0001t0004g0133 a0001c0001t0004g0152 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0137 a0001c0001t0005g0147 a0001c0001t0006g0099 a0001c0001t0006g0115 a0001c0001t0006g0119 a0001c0001t0006g0125 a0001c0001t0007g0001 a0001c0001t0008g0113 a0001c0001t0009g0088 a0001c0001t0010g0022 a0001c0001t0012g0023 a0001c0001t0013g0070 a0001c0001t0014g0027 a0001c0001t0015g0018 a0001c0001t0016g0019 a0001c0001t0017g0003 a0001c0001t0018g0049 a0001c0001t0020g0030 a0001c0001t0021g0026 a0001c0001t0022g0141 a0001c0001t0024g0149 a0001c0001t0025g0143 a0001c0001t0028g0136 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0002g0145 a0001c0002t0003g0073 a0001c0002t0006g0140 a0001c0002t0011g0034	83	147	0.5646	43	c.-33 others(62): Show c.-33-36190_-33-36189insTCCTCCCCCTGTAGGTCCCCTCCCAT CGCCTCCCCTCCTCCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79167329	C C	CCTCCCTC others(36): Show CCTCCCTCTGGGGTCTCTATCAGGCTCTGGGGGCCCCTCCTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp2 others(38): Show HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01261.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03579.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp2 NA18966.hp1 NA18970.hp1 NA18983.hp2 NA19043.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0004t0006	a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0060 others(38): Show a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0072 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0004g0122 a0001c0001t0004g0133 a0001c0001t0006g0099 a0001c0001t0006g0112 a0001c0001t0007g0038 a0001c0001t0008g0096 a0001c0001t0008g0117 a0001c0001t0008g0130 a0001c0001t0009g0024 a0001c0001t0010g0006 a0001c0001t0013g0070 a0001c0001t0015g0018 a0001c0001t0024g0149 a0001c0001t0025g0143 a0001c0001t0027g0111 a0001c0002t0001g0044 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0080 a0001c0002t0002g0139 a0001c0002t0003g0076 a0001c0002t0004g0098 a0001c0002t0004g0126 a0001c0002t0005g0103 a0001c0004t0006g0135	41	152	0.2697	43	c.-33 others(62): Show c.-33-51624_-33-51582dupAGAAGGAGGGGCCCCCAGAGCCTGAT AGAGACCCCAGAGGGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG03710.hp2 HG02132.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0009g0088 a0001c0001t0001g0004 a0001c0001t0009g0088	2	36	0.0556	43	c.-62 others(52): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611189	C C	CTCTCTCT others(36): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCCGCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	152	0.0066	43	c.-68 others(52): Show c.-684_-683insAGGAGGGCGGAGAGCGAGAGAGAGAGAGAGAGAGAG AGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		139		chr17	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(36): Show GTTGTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0072 a0002c0001t0072	a0002c0001t0072g0247 a0002c0001t0072g0247	1	78	0.0128	43	c.171 others(60): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0232 a0002c0007t0007g0232	1	100	0.0100	43	c.-23 others(64): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBPMS_chr8_30379541_30577256	30449282	T T	TTGCTAAA others(36): Show TTGCTAAAGTTGCCTTATCAGCTTAAGGGAGATTTTGGGCTGAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	302	0.0033	43	c.67- others(60): Show c.67-25497_67-25496insTGCTAAAGTTGCCTTATCAGCTTAAGGG AGATTTTGGGCTGAG	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8			chr8	TogoVar
RCBTB2_chr13_48483963_48538080	48493325	T T	TCACCCTC others(36): Show TCACCCTCTCTCCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA20300.hp1 HG01192.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0242 a0001c0001t0002g0245	2	300	0.0067	43	c.151 others(62): Show c.1515+2865_1515+2866insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGAGAGGGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493327	T T	TCACCCTC others(36): Show TCACCCTCTCTCCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	303	0.0033	43	c.151 others(62): Show c.1515+2863_1515+2864insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGAGAGGGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	144	0.0069	43	c.286 others(60): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(36): Show ATAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0249 a0001c0001t0014g0249	1	144	0.0069	43	c.286 others(60): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATTTTTTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(36): Show ATAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0322 a0001c0001t0003g0322	1	144	0.0069	43	c.286 others(60): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATTTTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(36): Show ATAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02683.hp2 HG02647.hp2 HG02683.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0003 a0001c0001t0004 a0003c0006t0003	a0001c0001t0004g0254 a0003c0006t0003g0205 a0001c0001t0004g0254 a0003c0006t0003g0205	2	145	0.0138	43	c.286 others(60): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RERE_chr1_8347404_8822640	8501472	T T	TCTGCCCG others(36): Show TCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0196 a0001c0001t0037g0196	1	129	0.0078	43	c.880 others(60): Show c.880-3944_880-3943insGGGGCTGACCCCCCCTCCCGGACGGGGG CGGCTGGCCGGGCAG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501472	T T	TCTGCCCG others(36): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 NA19005.hp2 HG00544.hp1 HG00597.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0001c0001t0023 a0002c0006t0024 a0001c0001t0003 a0001c0001t0023 a0002c0006t0024	a0001c0001t0003g0115 a0001c0001t0023g0114 a0002c0006t0024g0081 a0001c0001t0003g0115 a0001c0001t0023g0114 a0002c0006t0024g0081	3	131	0.0229	43	c.880 others(60): Show c.880-3944_880-3943insGGGGCTGACCCCCCCCTCCCGGACGGGG CGGCTGGCCGGGCAG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	18	0.0556	43	c.332 others(60): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296100	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0357 a0001c0001t0012g0357	1	365	0.0027	43	c.207 others(58): Show c.207+479_207+480insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18977.hp1 HG01934.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0253 a0001c0002t0004g0373 a0001c0002t0004g0253 a0001c0002t0004g0373	2	214	0.0093	43	c.207 others(58): Show c.207+489_207+490insTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(36): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02273.hp2 NA18980.hp2 HG01169.hp2 HG02273.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0258 a0001c0002t0004g0259 a0001c0002t0004g0375 a0001c0001t0005g0258 a0001c0002t0004g0259 a0001c0002t0004g0375	3	215	0.0140	43	c.207 others(58): Show c.207+489_207+490insTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296132	C C	CTTCTTTC others(36): Show CTTCTTTCCTTCTTCTTTCTTTCTCTTTCTTCTTTCCCTTCTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	315	0.0032	43	c.207 others(58): Show c.207+497_207+498insTCTTTCCTTCTTCTTTCTTTCTCTTTCTTC TTTCCCTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296161	C C	CTCTCTCT others(36): Show CTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0135 a0001c0002t0016g0135	1	164	0.0061	43	c.207 others(58): Show c.207+526_207+527insCTCTCTCTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18959.hp2 HG00558.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0350 a0001c0001t0001g0345 a0001c0001t0001g0350	2	230	0.0087	43	c.207 others(58): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0050 a0001c0001t0011g0050	1	354	0.0028	43	c.207 others(58): Show c.207+532_207+533insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN2_chr2_197563224_197680587	197616268	C C	CATTTTAT others(36): Show CATTTTATTTATTTTATTTTTTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02723.hp2 NA18906.hp2 others(2): Show HG02083.hp2 HG02723.hp2 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0007t0001	a0001c0001t0003g0038 a0001c0001t0005g0124 a0001c0001t0008g0057 others(2): Show a0001c0001t0003g0038 a0001c0001t0005g0124 a0001c0001t0008g0057 a0001c0001t0011g0157 a0001c0007t0001g0080	5	95	0.0526	43	c.105 others(60): Show c.1051-290_1051-289insAAAATAAAATAAAATAAAATAAAAAAAA TAAAATAAATAAAAT	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197616309	A A	ATTTTATT others(36): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	112	0.0089	43	c.105 others(60): Show c.1051-331_1051-330insAAAATAAAATAAATAAAATAAAATAAAA TAAAATAAAATAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0086 a0002c0003t0086	a0002c0003t0086g0087 a0002c0003t0086g0087	1	280	0.0036	43	c.64 others(54): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGN_chrX_47073443_47098313	47089351	T T	TTAATTTG others(36): Show TTAATTTGCATTATATGCAAGATAATTGTCATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0263 a0001c0001t0012g0263	1	302	0.0033	43	c.347 others(58): Show c.347-425_347-424insTAATTTGCATTATATGCAAGATAATTGTCA TTTTATATATATA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7			chrX	TogoVar
RGPD2_chr2_87750960_87830796	87824714	G G	GGCCGCCG others(36): Show GGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGCCGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0128 a0004c0005t0001g0128	1	131	0.0076	43	c.72+ others(56): Show c.72+901_72+943dupGGCGGCGGCGGCGGCCTCGGCCTGGCCGGGCG GCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(36): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCCGGGCCGGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	387	0.0026	43	c.125 others(58): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC CGGGGCCGGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS6_chr14_71927429_72571530	72465430	G G	GTCATGAG others(36): Show GTCATGAGGTCCACTTAGAAAACATATTTTTCCCAGGACAGTGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp1 HG02818.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0113 a0001c0001t0004g0009 a0001c0001t0001g0113 a0001c0001t0004g0009	2	68	0.0294	43	c.395 others(58): Show c.395-283_395-241dupCATGAGGTCCACTTAGAAAACATATTTTTC CCAGGACAGTGCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGSL1_chr1_182445146_182565597	182446816	T T	TATATATA others(36): Show TATATATATGACATATACATTTAATTTTTAAAATTAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	335	0.0030	43	c.-33 others(54): Show c.-3350_-3349insATATATATGACATATACATTTAATTTTTAAAATT AAATATATG	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		3329		chr1	TogoVar
RICTOR_chr5_38932920_39079399	38990659	T T	TATATGAT others(36): Show TATATGATATATATCAGATATATATGATATATCTGATATATATC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0272 a0002c0002t0003g0272	1	336	0.0030	43	c.583 others(58): Show c.583+289_583+290insGATATATATCAGATATATCATATATATCTG ATATATATCATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130529131	G G	GTGCTGAT others(36): Show GTGCTGATTCACACCACAACAGGGATGAACCTCAAAAAATGACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01361.hp1 others(15): Show HG00099.hp1 HG00280.hp2 HG01361.hp1 HG01891.hp1 HG02071.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG03225.hp2 HG03486.hp1 HG03710.hp1 HG03710.hp2 HG04228.hp2 NA18522.hp2 NA19079.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0016	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0048 a0002c0009 a0002c0010 a0004c0012 a0007c0018 a0008c0013 a0016c0051	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0005t0001 a0001c0048t0001 a0002c0009t0001 a0002c0010t0001 a0004c0012t0002 a0007c0018t0001 a0008c0013t0003 a0016c0051t0003	a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0001g0179 others(15): Show a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0001g0179 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0074 a0001c0002t0001g0168 a0001c0002t0002g0034 a0001c0003t0002g0079 a0001c0005t0001g0045 a0001c0005t0001g0165 a0001c0048t0001g0011 a0002c0009t0001g0147 a0002c0010t0001g0131 a0004c0012t0002g0096 a0007c0018t0001g0052 a0008c0013t0003g0175 a0016c0051t0003g0093	18	176	0.1023	43	c.-21 others(64): Show c.-216-11257_-216-11215dupTGTCATTTTTTGAGGTTCATCCCT GTTGTGGTGTGAATCAGCA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMKLA_chr1_42375792_42429232	42379416	A A	ACCCCGTC others(36): Show ACCCCGTCTCTACCTAAAAAAAATACAAAAAATTAGCCAGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	354	0.0028	43	c.-15 others(54): Show c.-1519_-1518insCCCCGTCTCTACCTAAAAAAAATACAAAAAATTA GCCAGGCGT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding		1375		chr1	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0061 a0004c0004t0002g0061	1	79	0.0127	43	c.249 others(60): Show c.249+5090_249+5091insATATATATATATATATATATATATATAT ATATATATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	200	0.0050	43	c.29 others(54): Show c.2929_*2930insAAAAAAAAAATATATATATATATATATATATATA TATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RLF_chr1_40156387_40245921	40200919	C C	CACACACA others(36): Show CACACACACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0323 a0003c0003t0001g0323	1	320	0.0031	43	c.608 others(60): Show c.608-1484_608-1483insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACACACACA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(36): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0273 a0001c0001t0007g0273	1	129	0.0078	43	c.-48 others(60): Show c.-48+1422_-48+1423insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02273.hp2 HG02602.hp2 others(12): Show HG00642.hp1 HG02273.hp2 HG02602.hp2 HG02622.hp2 HG02738.hp1 HG03927.hp2 HG04204.hp2 NA18955.hp1 NA18962.hp2 NA18983.hp1 NA18992.hp2 NA19067.hp2 NA19068.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0002c0003t0001	a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0005g0097 others(11): Show a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0005g0097 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0011g0113 a0001c0002t0001g0026 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0200 a0001c0002t0001g0280 a0002c0003t0001g0066	15	143	0.1049	43	c.-48 others(60): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140999985	A A	AGCAGAAG others(36): Show AGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0155 a0001c0001t0041g0155	1	128	0.0078	43	c.485 others(62): Show c.485-32113_485-32112insCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTTCTTCTGC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	140999993	A A	AGAAGAAG others(36): Show AGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	1	128	0.0078	43	c.485 others(62): Show c.485-32121_485-32120insCTCCTCCTCCTCCTCCTCCTCCTTCT TCTTCTTCTTCTTCTTC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	140999993	A A	AGAAGAAG others(36): Show AGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02723.hp1 others(2): Show HG01257.hp1 HG01258.hp2 HG02723.hp1 HG03195.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0001c0001t0014 a0001c0001t0035 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0035 a0003c0003t0008	a0001c0001t0006g0001 a0001c0001t0014g0095 a0001c0001t0035g0094 others(1): Show a0001c0001t0006g0001 a0001c0001t0014g0095 a0001c0001t0035g0094 a0003c0003t0008g0073	5	132	0.0379	43	c.485 others(62): Show c.485-32121_485-32120insCTTCTCCTCCTCCTCCTCCTCCTCCT TCTTCTTCTTCTTCTTC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(36): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0256 a0001c0002t0016g0256	1	121	0.0083	43	c.-13 others(64): Show c.-135-27480_-135-27479insTTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA19065.hp1 NA18981.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	121	0.0165	43	c.20 others(54): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF220_chr1_44400255_44656723	44566581	G G	GATGGAAG others(36): Show GATGGAAGTCTGAGACTGGGATGGGGTTTCTCCAGAGAAGTGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00741.hp1 others(2): Show HG00099.hp1 HG00099.hp2 HG00741.hp1 HG01175.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0003g0041 a0001c0001t0003g0047	5	218	0.0229	43	c.626 others(62): Show c.626-47549_626-47548insGAAGTGGTATGGAAGTCTGAGACTGG GATGGGGTTTCTCCAGA	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results