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
DENND1B_chr1_197499748_197780480	197713911	T T	TTATATAT others(168): Show TTATATATTATATATATTAAAATATATATATGTAATATATAATTATATAT TACATATTATGATATATAATATATAATTATATATTATATATTATATGATA TACATATATATTATATACATATAATATATACATATATTATATGCATATAA TATATGTATATATTATATGCATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0008 a0001c0001t0003g0009	2	280	0.0071	175	c.126 others(192): Show c.126+1119_126+1120insTTATATGCATATAATATATACATATATT ATATGCATATAATATATGTATATATTATATGTATATAATATATATGTATA TCATATAATATATAATATATAATTATATATTATATATCATAATATGTAAT ATATAATTATATATTACATATATATATTTTAATATATATAATATATA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKB_chr7_14140049_14907751	14211425	T T	TATTTACT others(168): Show TATTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCAT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGT GATATTTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	148	0.0068	175	c.212 others(196): Show c.2123-33275_2123-33274insTATCACAAAACACGAGAGTAAATA TCACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAA ACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAG AGTAAATATCACAAAACATGAGAGTAAATATCACAAAACACGAGAGTAAA T	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	429427	C C	CCCCCCCC others(168): Show CCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCC CCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGC CCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGC TGCCTCCCCCCGGACCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	88	0.0114	175	c.395 others(192): Show c.395-6395_395-6394insAGGCAGCCAGGGTCCGGGGGGAGGCAGC CAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGC CCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGG GGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478212	G G	GGGAGAAG others(168): Show GGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAG GGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAG AAGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAG GGGAGGGGAGAAGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	88	0.0114	175	c.158 others(192): Show c.158-5664_158-5663insTCTCCCCTCCCCTCTTCTCCCCTCCCCT CCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCT CCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCT CCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCTTCTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAAF11_chr8_132565416_132680545	132566654	C C	CTGGAAGG others(168): Show CTGGAAGGCAACAGTTACTAAACTTTTTTCTATTACATAACGAGGACCTC CTTTCCTCCATCAGGGAAGAGCATGTTCCTTAGTTTCCTATACATCCTCA CTGACAGCCTCCTGGGGCCTATCAAGTTTCCTTAATAGTCTTGTGTAGCC ACAGAGATGCACTGCTCAGATCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02572.hp1 others(6): Show HG01891.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG03195.hp1 HG03579.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0009 a0003c0003 a0002c0002 a0002c0009 a0003c0003	a0002c0002t0001 a0002c0009t0001 a0003c0003t0002 a0002c0002t0001 a0002c0009t0001 a0003c0003t0002	a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 others(6): Show a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0009t0001g0221 a0003c0003t0002g0074	9	276	0.0326	175	c.56 others(186): Show c.5651_*5652insAAGAGATCTGAGCAGTGCATCTCTGTGGCTACAC AAGACTATTAAGGAAACTTGATAGGCCCCAGGAGGCTGTCAGTGAGGATG TATAGGAAACTAAGGAACATGCTCTTCCCTGATGGAGGAAAGGAGGTCCT CGTTATGTAATAGAAAAAAGTTTAGTAACTGTTGCCTTCCA	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding		3761		chr8	TogoVar
DNAH17_chr17_78418697_78582396	78541095	T T	TGGGTGAG others(168): Show TGGGTGAGCGGATGGGTGGGTGAGCGGGGTGGGTGGGTGAGCGGGGTGGG GGGAGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGGTGAGCGGGGT GGGGGGGGTGAGCGGGGTGCGGGGGTGAGCGGGGTGCGGGGGGTGAGCGG GGTGGGGGGGGTGAGCGGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0174	1	252	0.0040	175	c.253 others(194): Show c.2533-1216_2533-1215insCCCCCACCCCGCTCACCCCCCCCACC CCGCTCACCCCCCGCACCCCGCTCACCCCCGCACCCCGCTCACCCCCCCC ACCCCGCTCACCCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACTCCC CCCACCCCGCTCACCCACCCACCCCGCTCACCCACCCATCCGCTCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DUSP8_chr11_1549051_1577271	1551252	T T	TCCATCCA others(168): Show TCCATCCATCCACCCACCCCATTCATCCCTCTACCCATTCATCCATCTGC CCATCCATCCATCCGTCCACCCACCCGCCCACCCCACTCATCCCTCTACC CATTCATTCATCTGCCCATCCATCCATCCATCCACCCACCCACCCCACTC ATCCCTCTACCCATTCATCCATCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(175): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0008 a0010 a0011 a0013	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0001c0016 a0001c0027 a0004c0011 a0006c0014 a0008c0019 a0010c0021 a0011c0020 a0013c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0004t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0028 a0001c0016t0001 a0001c0027t0001 a0004c0011t0001 a0006c0014t0001 a0008c0019t0024 a0010c0021t0007 a0011c0020t0001 a0013c0017t0008	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0007g0016 a0001c0001t0007g0025 a0001c0001t0007g0103 a0001c0001t0008g0015 a0001c0001t0009g0006 a0001c0001t0010g0070 a0001c0001t0010g0080 a0001c0001t0010g0115 a0001c0001t0011g0048 a0001c0001t0015g0047 a0001c0001t0019g0088 a0001c0001t0020g0072 a0001c0001t0022g0081 a0001c0001t0023g0082 a0001c0001t0025g0064 a0001c0001t0027g0083 a0001c0001t0029g0098 a0001c0001t0030g0084 a0001c0001t0033g0075 a0001c0001t0038g0085 a0001c0002t0001g0020 a0001c0002t0005g0009 a0001c0002t0005g0024 a0001c0002t0005g0054 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0008g0033 a0001c0002t0008g0053 a0001c0002t0021g0055 a0001c0004t0001g0022 a0001c0007t0001g0034 a0001c0010t0001g0094 a0001c0010t0028g0095 a0001c0016t0001g0089 a0001c0027t0001g0092 a0004c0011t0001g0071 a0006c0014t0001g0107 a0008c0019t0024g0099 a0010c0021t0007g0100 a0011c0020t0001g0079 a0013c0017t0008g0078	178	367	0.4850	175	c.52 others(186): Show c.5265_*5266insGCAGATGGATGAATGGGTAGAGGGATGAGTGGGG TGGGTGGGTGGATGGATGGATGGATGGGCAGATGAATGAATGGGTAGAGG GATGAGTGGGGTGGGCGGGTGGGTGGACGGATGGATGGATGGGCAGATGG ATGAATGGGTAGAGGGATGAATGGGGTGGGTGGATGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2798		chr11	TogoVar
DYM_chr18_49031387_49465645	49440439	G G	GTGACTAT others(168): Show GTGACTATATATTATATATTTATATAATATATGACTATATATTATATATT TATATAATATATGACTATATATTATATATTTATATAATATATGACTATAT ATTATATATTTATATAATATATGACTATATATTATATATTTATATATGAC TATATATTATATATTTATATAATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	290	0.0035	175	c.-53 others(192): Show c.-53-9993_-53-9992insTATATTATATAAATATATAATATATAGT CATATATAAATATATAATATATAGTCATATATTATATAAATATATAATAT ATAGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAA TATATAATATATAGTCATATATTATATAAATATATAATATATAGTCA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537972	A A	AATTTATA others(168): Show AATTTATATATATAATATATATATATAATTTATATATATAATATATATAT ATAATTTATATATATAATATATATATAATTTATATATATAATATATATAT AATTTATATATATAATTATATATATAATTTATATATATAATATATATAAT TTATATATATAATTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0054	1	336	0.0030	175	c.739 others(190): Show c.739-869_739-868insATTATATATATAAATTATATATATAAATTA TATATATTATATATATAAATTATATATATAATTATATATATAAATTATAT ATATATTATATATATAAATTATATATATATTATATATATAAATTATATAT ATATATTATATATATAAATTATATATATATATTATATATATAAAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(168): Show GTGGTGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	170	0.0059	175	c.86- others(188): Show c.86-536_86-535insAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716248	G G	GTGTCATG others(168): Show GTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCAAGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	170	0.0059	175	c.86- others(188): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCAAGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716306	G G	GTGTCATG others(168): Show GTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAAGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	170	0.0059	175	c.86- others(188): Show c.86-318_86-317insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AAGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21180064	T T	TATATTAC others(168): Show TATATTACATATATTATGTAATATATGTTATATATTACATATAATATATG TAATATATAATATATAATATATATATTATATATATATTATGTATTATATA TATAATATATTATACATAATATATAATATATATTACGTAATATATTACAT ATATTATATATAATATATATTACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0119 a0004c0006t0001g0120 a0004c0006t0001g0119 a0004c0006t0001g0120	2	312	0.0064	175	c.-37 others(186): Show c.-3799_-3798insTACGTAATATATATTATATATAATATATGTAATA TATTACGTAATATATATTATATATTATGTATAATATATTATATATATAAT ACATAATATATATATAATATATATATTATATATTATATATTACATATATT ATATGTAATATATAACATATATTACATAATATATGTAATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3168		chr1	TogoVar
ERBIN_chr5_65921575_66087546	65940534	T T	TGCCCGGC others(168): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCGGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0245 a0001c0002t0002g0245	1	306	0.0033	175	c.-58 others(194): Show c.-58+13811_-58+13985dupGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ESYT2_chr7_158725997_158834509	158804402	T T	TGTTGAGA others(168): Show TGTTGAGAAAAGTGAGGCGCGCGACAAACCCAAACTGCCGAGAAAGGTGA GGTGTGTGACAAACCCAAACTGCCGAGAAGGGTGAGGCGCGTGACAAACC CAAACTGCTGAGAAAAGTGAGGCGCGCGACAAACCCAAACTGCCGAGAAG GGTGAGGCGAGTGACAAACCCAAACC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	370	0.0027	175	c.331 others(192): Show c.331-5331_331-5330insGGTTTGGGTTTGTCACTCGCCTCACCCT TCTCGGCAGTTTGGGTTTGTCGCGCGCCTCACTTTTCTCAGCAGTTTGGG TTTGTCACGCGCCTCACCCTTCTCGGCAGTTTGGGTTTGTCACACACCTC ACCTTTCTCGGCAGTTTGGGTTTGTCGCGCGCCTCACTTTTCTCAAC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETS1_chr11_128453765_128592558	128497925	T T	TCGCTCAT others(168): Show TCGCTCATTCCTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTAGTG CGCTGGACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTTCCCCCTCCCCCGACCCCAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	286	0.0035	175	c.215 others(192): Show c.215-7350_215-7349insTTGGGGTCGGGGGAGGGGGAAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTCCAGCGCA CTAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAGGAATGAGCG	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128497925	T T	TCGCTCAT others(168): Show TCGCTCATTCCTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGGACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTTCCCCCTCCCCCGACCCCAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG02165.hp2 others(12): Show HG02056.hp1 HG02071.hp1 HG02165.hp2 HG03017.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18997.hp2 NA19012.hp1 NA19074.hp2 NA19075.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0029	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0194 others(12): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0194 a0001c0001t0001g0226 a0001c0001t0001g0279 a0001c0001t0005g0259 a0001c0001t0030g0058 a0001c0002t0001g0225 a0001c0002t0001g0246 a0001c0002t0001g0280 a0001c0002t0002g0211 a0001c0002t0002g0255 a0001c0002t0003g0003 a0001c0002t0012g0143 a0001c0002t0029g0252	15	286	0.0525	175	c.215 others(192): Show c.215-7350_215-7349insTTGGGGTCGGGGGAGGGGGAAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTCCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAGGAATGAGCG	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
FANCD2_chr3_10021437_10106932	10070504	G G	GGGGGGCT others(168): Show GGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp2 HG03492.hp1 HG01123.hp1 HG01981.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0048 a0001c0001t0004g0121 a0001c0001t0004g0036 a0001c0001t0004g0048 a0001c0001t0004g0121	3	242	0.0124	175	c.249 others(194): Show c.2495-2362_2495-2361insCTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(168): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	334	0.0030	175	c.-10 others(194): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331990	C C	CACCACCG others(168): Show CACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTGGTGTA TATATAAAAATGTATATATACACCACCGTGGTGTATATATAAAAATGTAT ATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTG GTGTATATATAAAAATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0328 a0004c0004t0006g0328	1	334	0.0030	175	c.-10 others(194): Show c.-10-18366_-10-18365insGTATATATACACCACCGTGGTGTATA TATAAAAATGTATATATACACCACCGTGGTGTATATATAAAAATGTATAT ATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTGGT GTATATATAAAAATGTATATATATACCACCGTGGTGTATATATAAAAAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATTTA others(168): Show TATATTTATATAAATATATACATATATAAATATAAATATATTTATATAAA TATATAAATATATAATATAAATATATTTATATAAATATATAAATATATAA TATAAATATATTTATATTATATATTTATATAAATATATTTAAATATTAAA TATAAATATATTTATATAAATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02300.hp2 NA18522.hp2 HG01167.hp1 HG02300.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0003t0004g0038 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0003t0004g0038	3	46	0.0652	175	c.279 others(194): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTAATATTTAAATATATTTATATAAATATATAATATAAATATATTTATA TTATATATTTATATATTTATATAAATATATTTATATTATATATTTATATA TTTATATAAATATATTTATATTTATATATGTATATATTTATATAAATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FNDC11_chr20_63549159_63561695	63559780	C C	CAGTCAGA others(168): Show CAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCA GTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCA GGTGGGAGGAGTCAGGGTCAGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01981.hp1 HG01981.hp2 others(2): Show HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	416	0.0120	175	c.31 others(186): Show c.3160_*3161insAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGT GGGAGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGG GTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGG	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		3086		chr20	TogoVar
GABRA2_chr4_46238548_46395128	46377730	G G	GGGGGGGT others(168): Show GGGGGGGTCAGCCCCCCGCCCAGCTAGCCGCCCCGTCCAGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0220 a0001c0001t0176g0220	1	258	0.0039	175	c.187 others(192): Show c.187+8343_187+8344insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCTGGACGGGGCGGCTAGCTGGGCGGGGGGCTGACCCCCC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27388164	A A	AAAGGGAG others(168): Show AAAGGGAGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGG AGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGG AGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGG AGGGTAAGGAAGGAAGGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0024 a0001c0014t0024	a0001c0014t0024g0057 a0001c0014t0024g0057	1	92	0.0109	175	c.574 others(194): Show c.574+59277_574+59278insAGGGAGGAGGGAGGGAGGAAAGGAAG GAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAG GAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAG GAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLB1L3_chr11_134271379_134324564	134308401	C C	CCATCATC others(168): Show CCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCAAATACCACCACCACCATGTCCACCACCACTACCACCACCA CCACCACCACCATCACCATCATCACCATCATCACTACCACCACCACCACC ACCACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp2 HG00099.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0270 a0001c0002t0002g0027 a0001c0002t0002g0270	3	422	0.0071	175	c.961 others(192): Show c.961+1198_961+1199insTCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCATGTCCACC ACCACTACCACCACCACCACCACCACCATCACCATCATCACCATCATCAC TACCACCACCACCACCACCACCACCATCACCACCACCACCATCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(168): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAATATATATATTATATATAATTTAATATTAAATATATATATATAATATA TATATTTAATATTAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02523.hp1 HG00423.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	282	0.0071	175	c.321 others(194): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATATATTTAATATTAAATTATATATAATATATATATTT TTCTATTAAATATATATATTATATATATTTTCTATTAAATATATATTATA TATTTTCTATTAAATATATATATTATATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GPATCH2_chr1_217421992_217636090	217524847	C C	CGTGGAAA others(168): Show CGTGGAAAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03491.hp2 HG01167.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0026 a0001c0001t0007g0004 a0001c0001t0001g0026 a0001c0001t0007g0004	2	188	0.0106	175	c.109 others(194): Show c.1099-9959_1099-9958insTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTTTCCAC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116182	A A	ATATATAA others(168): Show ATATATAATATAATTATATATATTTATATTATATATATTATATATAATTA TATATAATATATTATATATTATATATAATTATATATAATATATTATATAT TATATGTAATATAAATATATATAATTATATTATATATATTATATGTAATA TAATTATATATATTTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0014 a0003c0007t0014	a0003c0007t0014g0323 a0003c0007t0014g0323	1	404	0.0025	175	c.384 others(192): Show c.384-4694_384-4693insATATATAATATAAATATATATAATTATA TTACATATAATATATATAATATAATTATATATATTTATATTACATATAAT ATATAATATATTATATATAATTATATATAATATATAATATATTATATATA ATTATATATAATATATATAATATAAATATATATAATTATATTATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRM7_chr3_6856115_7746533	7099471	A A	ACACATAT others(168): Show ACACATATATGTATATGTACACGCATTATACATGCGCACATATATGTATA TGTACACGCATTATACATGCGCACATATATGTATATGTACACGCATTATA CATGCGCACATATATGTATATGTACACGCATTATACATGCGCACATATAT GTATATGTACACGCATTATACATGCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	80	0.0125	175	c.520 others(194): Show c.520-46948_520-46947insCGCACATATATGTATATGTACACGCA TTATACATGCGCACATATATGTATATGTACACGCATTATACATGCGCACA TATATGTATATGTACACGCATTATACATGCGCACATATATGTATATGTAC ACGCATTATACATGCGCACATATATGTATATGTACACGCATTATACATG	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRTP1_chr13_113319163_113369130	113346198	G G	GTGGACCC others(168): Show GTGGACCCGGGAGGACCTCTGCGGCTGAGCAGACCTGGGAAGACATCTGT GGCCGAGAGCAGACCCAGGAGGACCTCTGTGCCTGACAGTGGACCCGGGA GGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAAC AGACCCGGGAGGACCTCTGTGCCTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0270 a0009c0011t0001g0270	1	288	0.0035	175	c.466 others(192): Show c.466-1240_466-1239insTCAGGCACAGAGGTCCTCCCGGGTCTGT TCTCGGCCACAGAGGTCCTCCTGGGTCTGCTCTTTGCCACAGAGGTCCTC CCGGGTCCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCAC AGATGTCTTCCCAGGTCTGCTCAGCCGCAGAGGTCCTCCCGGGTCCA	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85646095	C C	CCTATGCA others(168): Show CCTATGCATGCATTCTACCTGCTTCTACCACGCTTCCTATGCATGCATTC TACCTGCTTCTACCACGCTTCCTATGCATGCATTCTACCTGCTTCTACCA CGCTTCCTATGCATGCATTCTACCTGCTTCTACCACGCTTCCTATGCATG CATTCTACCTGCTTCTCCCACGCTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	290	0.0035	175	c.227 others(192): Show c.227-2320_227-2319insTTCCTATGCATGCATTCTACCTGCTTCT CCCACGCTTTCTATGCATGCATTCTACCTGCTTCTACCACGCTTCCTATG CATGCATTCTACCTGCTTCTACCACGCTTCCTATGCATGCATTCTACCTG CTTCTACCACGCTTCCTATGCATGCATTCTACCTGCTTCTACCACGC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCTC others(168): Show CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0192 a0001c0001t0066g0192	1	290	0.0035	175	c.427 others(192): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27842180	G G	GTGCCGAA others(168): Show GTGCCGAATTTCACATCAGTAGCACGATGTCGCGCGTGCCGAATTTCACA TCAGTAGCACGATGTCGCGCGTGCCGAATTTCACATCAGTAGCACGATGT CGCGCGTGCCGAATTTCACATCAGTAGCACGATGTCGCGTGTGCCGAATT TCACATCAGTAGCACGATGTCGCGCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG03139.hp2 others(1): Show HG01243.hp1 HG02486.hp2 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0018 a0001c0002t0009 others(1): Show a0001c0001t0010 a0001c0001t0018 a0001c0002t0009 a0001c0002t0010	a0001c0001t0010g0024 a0001c0001t0018g0058 a0001c0002t0009g0012 others(1): Show a0001c0001t0010g0024 a0001c0001t0018g0058 a0001c0002t0009g0012 a0001c0002t0010g0008	4	240	0.0167	175	c.662 others(192): Show c.662+2769_662+2770insTGCGCGACATCGTGCTACTGATGTGAAA TTCGGCACACGCGACATCGTGCTACTGATGTGAAATTCGGCACGCGCGAC ATCGTGCTACTGATGTGAAATTCGGCACGCGCGACATCGTGCTACTGATG TGAAATTCGGCACGCGCGACATCGTGCTACTGATGTGAAATTCGGCA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	4/6			chr16	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(168): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(117): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp2 NA19083.hp1 NA19085.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0005c0005t0001 a0001c0001t0001 a0001c0001t0003 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0003g0145 a0001c0001t0003g0146 a0005c0005t0001g0171	120	398	0.3015	175	c.38- others(190): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATAAATTAATTTATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(168): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTAATCATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	398	0.0025	175	c.38- others(190): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATGATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATAAATTAATTTATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(168): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTGATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	398	0.0025	175	c.38- others(190): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATCAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATAAATTAATTTATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(168): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTTATAATTAATAATAACATGTAATTAATTATAAATTTATAA TTAATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00673.hp2 others(20): Show HG00099.hp1 HG00323.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02698.hp2 HG02965.hp1 HG04115.hp2 NA18948.hp1 NA19002.hp1 NA19060.hp2 NA19080.hp1 NA19081.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0040 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0235	23	398	0.0578	175	c.38- others(190): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT AAATTTATAATTAATTACATGTTATTATTAATTATAAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATAAATTAATTTATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GZMM_chr19_539053_554922	550576	C C	CCCGAAAA others(168): Show CCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCC GTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCC AGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACA GGCCCGTCCCCAGTCACCCCAGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	398	0.0025	175	c.78 others(184): Show c.785_*786insCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGT CCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAG CACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		655		chr19	TogoVar
HELZ2_chr20_63553086_63579239	63559780	C C	CAGTCAGA others(168): Show CAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCA GTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCA GGTGGGAGGAGTCAGGGTCAGATGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG01993.hp2 others(1): Show HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02300.hp2	a0001 a0026 a0078 a0001 a0026 a0078	a0001c0001 a0026c0019 a0078c0048 a0001c0001 a0026c0019 a0078c0048	a0001c0001t0008 a0026c0019t0003 a0078c0048t0003 a0001c0001t0008 a0026c0019t0003 a0078c0048t0003	a0001c0001t0008g0129 a0026c0019t0003g0021 a0078c0048t0003g0228 a0001c0001t0008g0129 a0026c0019t0003g0021 a0078c0048t0003g0228	4	390	0.0103	175	c.782 others(192): Show c.7825+147_7825+148insCCCATCTGACCCTGACTCCTCCCACCTG ACCCTGACTCCTCCCACCTGACCCTGACTCCTCCCACCTGACCCTGACTG ACTCCCACCTGACCCTGACTCCTCCCACCTGACCCTGACTCCGACCTGAC CCTGACTCCTCCCACCTGACCCTGACTCCTCCCACCTGACTCTGACT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(168): Show TATATTTTATTTTATTTTATTTTTGTATTTTATATTTTATTTTATTTTAT TTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18970.hp2 NA18947.hp2 NA18970.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0007	a0005c0012t0007g0037 a0005c0012t0007g0037	2	394	0.0051	175	c.41- others(190): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATATAAAATAA AATAAAATAAAATATAAAATACAAAAATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IDS_chrX_149471988_149510306	149490732	T T	TCTCCCTC others(168): Show TCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAA ACTGATCCTTCAGTCCCTTGAAACACAGGCCCACACATGCTCTGGTAAGG GCCACAAAGATACAATTCAGCTCTGTTAATTTCCTGTGGCTGCCATAACA AAATATCACAAACTGGGTGGCTGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp1 HG03453.hp1 others(1): Show HG03195.hp1 HG03225.hp1 HG03453.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0020 a0002c0003t0021 a0002c0003t0014 a0002c0003t0020 a0002c0003t0021	a0002c0003t0014g0030 a0002c0003t0014g0032 a0002c0003t0020g0031 others(1): Show a0002c0003t0014g0030 a0002c0003t0014g0032 a0002c0003t0020g0031 a0002c0003t0021g0033	4	303	0.0132	175	c.880 others(190): Show c.880-293_880-292insTTTCAGCCACCCAGTTTGTGATATTTTGTT ATGGCAGCCACAGGAAATTAACAGAGCTGAATTGTATCTTTGTGGCCCTT ACCAGAGCATGTGTGGGCCTGTGTTTCAAGGGACTGAAGGATCAGTTTCT GTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	6/8			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33321837	G G	GTGGAACC others(168): Show GTGGAACCAATACATATATGGAACATATATATGTGGAACCAATACATATA TGCAACATATATATGTGGAACCAATACATATATGGAACATATATATGTGG AACCAATACACATATGGAACATATATATGTGGAACCAATACATATATGGA ACATATATATGTGGAACAAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03486.hp2 NA21309.hp1 HG02717.hp2 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0234 a0001c0001t0003g0032 a0001c0001t0003g0234	3	323	0.0093	175	c.-32 others(186): Show c.-3219_-3218insTGGAACCAATACATATATGGAACATATATATGTG GAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGG AACATATATATGTGGAACCAATACACATATGGAACATATATATGTGGAAC CAATACATATATGGAACATATATATGTGGAACAAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3132		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321837	G G	GTGGAACC others(168): Show GTGGAACCAATACATATATGGAACATATATATGTGGAACCAATACATATA TGCAACATATATATGTGGAACCAATACATATATGGAACATATATATGTGG AACCAATACATATATGGAACATATATATGTGGAACCAATACATATATGGA ACATATATATGTGGAACAAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02145.hp1 HG02622.hp2 others(6): Show HG00099.hp2 HG02145.hp1 HG02622.hp2 HG02698.hp1 HG02965.hp1 HG03516.hp1 NA18951.hp2 NA18967.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0173 others(5): Show a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0182	9	323	0.0279	175	c.-32 others(186): Show c.-3219_-3218insTGGAACCAATACATATATGGAACATATATATGTG GAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGG AACATATATATGTGGAACCAATACATATATGGAACATATATATGTGGAAC CAATACATATATGGAACATATATATGTGGAACAAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3132		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321867	G G	GTGGAACC others(168): Show GTGGAACCAATACATATATGCAACATATGTATGTGGAACCAATACATATA TGCAACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGG AACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGCA ACATATGTATGTGGAACCAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18906.hp2 HG02145.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0042 a0001c0001t0041 a0001c0001t0042	a0001c0001t0041g0126 a0001c0001t0042g0127 a0001c0001t0041g0126 a0001c0001t0042g0127	2	323	0.0062	175	c.-31 others(186): Show c.-3189_-3188insTGGAACCAATACATATATGCAACATATGTATGTG GAACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGC AACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGGAAC CAATACATATATGCAACATATGTATGTGGAACCAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3102		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321867	G G	GTGGAACC others(168): Show GTGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATA TGCAACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGG AACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGCA ACATATGTATGTGGAACCAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG06807.hp1 HG01175.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0043 a0001c0001t0020 a0001c0001t0043	a0001c0001t0020g0130 a0001c0001t0043g0128 a0001c0001t0020g0130 a0001c0001t0043g0128	2	323	0.0062	175	c.-31 others(186): Show c.-3189_-3188insTGGAACCAATACATATATGGAACATATGTATGTG GAACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGC AACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGGAAC CAATACATATATGCAACATATGTATGTGGAACCAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3102		chr21	TogoVar
INF2_chr14_104684618_104727535	104720512	T T	TCCTCGTG others(168): Show TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTG CGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTGCATAGTCTCGTGTGG ATGCTGCTGTGCACGTCTGCGTCGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp1 NA19088.hp2 NA18986.hp1 NA19088.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0045 a0005c0008t0045	a0005c0008t0045g0048 a0005c0008t0045g0048	2	380	0.0053	175	c.17 others(186): Show c.1720_*1721insCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTGC ATAGTCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCC	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5175	INFO_REALIGN_3_PRIME	chr14	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAGGGA others(168): Show AGGAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGA AGGGAGGGAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	282	0.0036	175	c.290 others(194): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031555	A A	AAGGGAGG others(168): Show AAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	282	0.0036	175	c.290 others(194): Show c.2908-3820_2908-3819insCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCTCCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031555	A A	AAGGGAGG others(168): Show AAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	282	0.0036	175	c.290 others(194): Show c.2908-3820_2908-3819insCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCTCCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132775013	A A	AGGGGCAG others(168): Show AGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGG CAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	204	0.0049	175	c.978 others(192): Show c.978-2647_978-2646insAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results