Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RBM46_chr4_154776272_154833813	154780904	T T	TGTGGTTG others(18): Show TGTGGTTGTTTTGCGCCAAACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0091 a0001c0001t0009g0092	2	372	0.0054	25	c.-54 others(34): Show c.-544_-543insGTGGTTGTTTTGCGCCAAACTAGCA	RBM46	ENSG00000151962.8	transcript	ENST00000281722.8	protein_coding		367		chr4	TogoVar
RBM46_chr4_154776272_154833813	154780919	C C	CCAAACTA others(18): Show CCAAACTAGCAGTGGTTGTTTTGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02280.hp2 others(15): Show HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0024 others(9): Show a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0024 a0001c0001t0004g0075 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0015g0267	18	372	0.0484	25	c.-52 others(34): Show c.-529_-528insCAAACTAGCAGTGGTTGTTTTGCGT	RBM46	ENSG00000151962.8	transcript	ENST00000281722.8	protein_coding		352		chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0222 a0001c0008t0007g0222	1	114	0.0088	25	c.112 others(42): Show c.1124-444_1124-443insATATATATTTTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18975.hp1 HG02074.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0012 a0001c0001t0001 a0002c0002t0012	a0001c0001t0001g0182 a0002c0002t0012g0266 a0001c0001t0001g0182 a0002c0002t0012g0266	2	115	0.0174	25	c.112 others(42): Show c.1124-444_1124-443insATATATATATTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40535371	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	117	0.0085	25	c.-15 others(44): Show c.-155+9050_-155+9051insAAAAAAAGAAAAAAAAAAAAAAAAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92544398	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	169	0.0059	25	c.74 others(36): Show c.7461_*7462insTTTTTTTTTTTTTTTTTTTTTTTTT	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding		3918		chr7	TogoVar
RBM5_chr3_50083919_50124021	50106118	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	35	0.0286	25	c.855 others(40): Show c.855+419_855+443dupTTTTTTTTTTTTTTTTTTTTTTTTT	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS1_chr2_160267151_160498807	160311209	A A	AAATCTAT others(18): Show AAATCTATCTATCTATATATCTATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0293 a0001c0002t0004g0293	1	303	0.0033	25	c.402 others(42): Show c.402+1946_402+1947insATATAGATATATAGATAGATAGATT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160426297	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	238	0.0042	25	c.76- others(42): Show c.76-58907_76-58906insCTTCCTTCCTTCCTTCTTTCTTTCT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29324642	T T	TGGAGCTC others(18): Show TGGAGCTCCCAGATGCCTTGTAGAGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp2 NA19240.hp1 HG02965.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0071 a0001c0001t0074 a0001c0001t0017 a0001c0001t0071 a0001c0001t0074	a0001c0001t0017g0081 a0001c0001t0071g0079 a0001c0001t0074g0029 a0001c0001t0017g0081 a0001c0001t0071g0079 a0001c0001t0074g0029	3	114	0.0263	25	c.75+ others(42): Show c.75+42886_75+42887insGGAGCTCCCAGATGCCTTGTAGAGC	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14			chr3	TogoVar
RBMS3_chr3_29276071_30015386	29444788	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 NA18944.hp2 HG02451.hp1 HG03209.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0080 a0001c0002t0031 a0001c0001t0008 a0001c0001t0080 a0001c0002t0031	a0001c0001t0008g0078 a0001c0001t0080g0031 a0001c0002t0031g0037 a0001c0001t0008g0078 a0001c0001t0080g0031 a0001c0002t0031g0037	3	13	0.2308	25	c.248 others(42): Show c.248+9897_248+9898insTTTTTTTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29578790	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0001 a0001c0001t0069g0001	1	74	0.0135	25	c.308 others(42): Show c.308-8302_308-8301insTTTTTTTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMX_chrX_136868461_136885725	136884618	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	253	0.0040	25	c.-40 others(36): Show c.-4049_-4048insAAAAAAAAAAAAAAAAAAAAAAAAA	RBMX	ENSG00000147274.14	transcript	ENST00000320676.11	protein_coding		3894		chrX	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(21): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01255.hp1 HG01952.hp2 HG02040.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03017.hp2 HG03831.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18981.hp2 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19003.hp1 NA19074.hp2 NA19077.hp1 NA19090.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0011c0014	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0011c0014t0001	a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0002t0001g0001 others(11): Show a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0017t0001g0001 a0011c0014t0001g0001	24	33	0.7273	25	c.-11 others(36): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPJ_chr4_26316014_26439923	26316673	C C	CATATATA others(18): Show CATATATATATATACACACATTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0030 a0001c0002t0024g0030	1	290	0.0034	25	c.-43 others(36): Show c.-4356_-4355insATATATATATATACACACATTGTGT	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding		4340		chr4	TogoVar
RBSN_chr3_15065073_15104148	15065192	C C	CATGGCGG others(18): Show CATGGCGGCAACGGTGGCGGGGCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	358	0.0028	25	c.85 others(36): Show c.8565_*8589dupTCGGCCCCGCCACCGTTGCCGCCAT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding		4880		chr3	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	252	0.0040	25	c.88 others(36): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03130.hp1 others(1): Show HG02055.hp2 HG02486.hp1 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0285 others(1): Show a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0285 a0001c0001t0006g0286	4	112	0.0357	25	c.313 others(44): Show c.3135+1013_3135+1014insTTTTTTTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RCC1_chr1_28501043_28543989	28543238	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	289	0.0035	25	c.52 others(36): Show c.5231_*5232insAAAAAAAATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4250		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp2 HG04115.hp1 others(1): Show HG00735.hp1 HG02004.hp2 HG04115.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0005g0165 others(1): Show a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0005g0165 a0001c0002t0005g0320	4	147	0.0272	25	c.286 others(42): Show c.286-2161_286-2160insATATATATATATATATATATATTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(18): Show ATAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	144	0.0069	25	c.286 others(42): Show c.286-2161_286-2160insATATATATATATATATTTTTTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(18): Show ATAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01167.hp1 HG01169.hp1 others(6): Show HG00438.hp2 HG01167.hp1 HG01169.hp1 HG01943.hp2 HG01981.hp2 NA18971.hp1 NA19005.hp2 NA19055.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0003g0005 a0001c0001t0003g0225 a0001c0001t0003g0261 others(6): Show a0001c0001t0003g0005 a0001c0001t0003g0225 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0004g0014 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0267 a0001c0001t0010g0223	9	152	0.0592	25	c.286 others(42): Show c.286-2161_286-2160insATATATATATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487592	A A	AATATATA others(18): Show AATATATATTCATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(85): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02698.hp2 HG02735.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp1 NA19067.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0241 a0001c0001t0002g0002 a0001c0001t0002g0003 others(45): Show a0001c0001t0001g0241 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0004g0214 a0001c0001t0004g0235 a0001c0001t0010g0041 a0001c0001t0010g0204 a0001c0001t0010g0222 a0001c0001t0011g0045 a0001c0001t0011g0208 a0001c0001t0012g0023 a0001c0001t0012g0051 a0001c0001t0017g0047 a0001c0001t0023g0217 a0001c0002t0002g0049	88	391	0.2251	25	c.657 others(42): Show c.657+2964_657+2988dupATTATGAATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(18): Show TATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	305	0.0033	25	c.657 others(42): Show c.657+2874_657+2898dupTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA19067.hp1 HG06807.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0040 a0001c0001t0029g0179 a0001c0001t0002g0040 a0001c0001t0029g0179	2	163	0.0123	25	c.-30 others(36): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02083.hp1 HG03834.hp1 others(4): Show HG02055.hp1 HG02083.hp1 HG03834.hp1 HG04199.hp1 NA18966.hp2 NA18972.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0005g0020	7	22	0.3182	25	c.6+3 others(36): Show c.6+300_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18941.hp2 NA18966.hp2 others(3): Show HG02717.hp2 NA18941.hp2 NA18966.hp2 NA19010.hp1 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0003g0008 others(2): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0003g0008 a0001c0001t0003g0223 a0001c0001t0016g0311	6	98	0.0612	25	c.-65 others(42): Show c.-65+6486_-65+6510dupTTTTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110289981	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	373	0.0027	25	c.-65 others(42): Show c.-65+6485_-65+6486insGTTTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	133	0.0075	25	c.440 others(42): Show c.440-1213_440-1212insCTCTCTCTCTCTCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20			chr9	TogoVar
RECQL4_chr8_144506288_144522833	144513768	A A	AGTGGGGA others(18): Show AGTGGGGAGTGAGGGAGGGGGTCGGC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0077 a0005c0010t0001g0077	1	405	0.0025	25	c.205 others(40): Show c.2059-57_2059-56insGCCGACCCCCTCCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAGAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0047 a0001c0003t0003g0047	1	241	0.0041	25	c.34 others(36): Show c.3485_*3486insAAAAAAAAAAAAAAAAGAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG00639.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	2	242	0.0083	25	c.34 others(36): Show c.3485_*3486insAAAAAAAAAAAAAAAGAAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp2 HG01069.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0065 a0001c0001t0001g0073	2	104	0.0192	25	c.505 others(42): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45017450	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(3): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0002t0001g0104 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0002t0001g0104 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0140	6	380	0.0158	25	c.505 others(42): Show c.505-4590_505-4589insACAAAAAAAAACAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45035539	C C	CAACAACA others(18): Show CAACAACAACAACAACAACAACAACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	376	0.0027	25	c.135 others(44): Show c.1354+1013_1354+1014insCAACAACAACAACAACAACAACAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELN_chr7_103466789_103994658	103977310	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0032 a0032	a0032c0082 a0032c0082	a0032c0082t0006 a0032c0082t0006	a0032c0082t0006g0151 a0032c0082t0006g0151	1	35	0.0286	25	c.226 others(44): Show c.226+11796_226+11820dupTTTTTTTTTTTTTTTTTTTTTTTTT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31470798	A A	ACCCCGTC others(18): Show ACCCCGTCCCCGCGGGGGGCGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	342	0.0029	25	c.-47 others(36): Show c.-4788_-4787insCCCCGTCCCCGCGGGGGGCGGGGAC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4489		chr20	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03209.hp1 HG03490.hp1 others(3): Show HG01074.hp1 HG03209.hp1 HG03490.hp1 HG03704.hp2 NA18946.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0102 others(3): Show a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0112 a0001c0001t0006g0116 a0001c0001t0008g0018	6	109	0.0550	25	c.151 others(46): Show c.1517-10518_1517-10517insTATATATATATATATATATATATA T	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
RERE_chr1_8347404_8822640	8372543	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	198	0.0051	25	c.128 others(44): Show c.1285-6570_1285-6569insCACACACACACACACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8383865	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0155 a0001c0002t0032g0155	1	77	0.0130	25	c.128 others(46): Show c.1285-17916_1285-17892dupTATTTTATTTTATTTTATTTTATT T	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0033 a0001c0010t0007g0033	1	29	0.0345	25	c.128 others(46): Show c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA A	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02004.hp2 HG02451.hp1 HG00609.hp2 HG02004.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0038 a0001c0002t0002g0163 a0001c0004t0001g0048 a0001c0001t0001g0038 a0001c0002t0002g0163 a0001c0004t0001g0048	3	31	0.0968	25	c.523 others(42): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0012 a0001c0011t0007 a0001c0003t0012 a0001c0011t0007	a0001c0003t0012g0017 a0001c0011t0007g0028 a0001c0003t0012g0017 a0001c0011t0007g0028	2	16	0.1250	25	c.522 others(42): Show c.522+7002_522+7026dupAAAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	40	0.0250	25	c.-14 others(46): Show c.-145+27858_-145+27859insATATATATATATATATATATATAT T	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	74	0.0135	25	c.62- others(42): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTC	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	374	0.0027	25	c.-28 others(36): Show c.-2875_-2874insTATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA19030.hp2 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	51	0.0392	25	c.45 others(36): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG3_chr17_42574515_42614374	42611452	C C	CGGAATTT others(18): Show CGGAATTTTTATTCCTAATCAGAACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	358	0.0028	25	c.-21 others(36): Show c.-2129_-2128insCGTTCTGATTAGGAATAAAAATTCC	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding		2079		chr17	TogoVar
REV1_chr2_99395477_99495017	99490088	G G	GCCCCGCC others(18): Show GCCCCGCCCACGCCCCCCTCCGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	322	0.0031	25	c.-28 others(34): Show c.-283_-282insGCCGCGGAGGGGGGCGTGGGCGGGG	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding		72		chr2	TogoVar
REV3L_chr6_111294033_111488218	111408602	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	10	0.1000	25	c.404 others(42): Show c.404+2853_404+2877dupGTTTTGTTTTGTTTTGTTTTGTTTT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	3/31			chr6	TogoVar

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