Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NAP1L5_chr4_88690913_88702829	88699085	C C	CTTCCTCA others(41): Show CTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTTACCCTCTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG04184.hp1 HG02698.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	414	0.0048	48	c.-13 others(59): Show c.-1332_-1331insTAAGAGGGTAAAGAGGGTGAGGAAGAAGAGGGTG AGGAGCGTGAGGAA		NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding					1257		chr4	TogoVar
NAPSA_chr19_50353477_50370639	50358625	G G	GCCCACCC others(41): Show GCCCACCCGGGCGCTGCTCTTCATGTCCCCGCGGTCGAAGACGGCCACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG00738.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0054 a0014c0014t0001g0054	1	350	0.0029	48	c.114 others(57): Show c.1143_1190dupTGTGGCCGTCTTCGACCGCGGGGACATGAAGAGCAG CGCCCGGGTGGG	p.Gly others(61): Show p.Gly397_Leu398insValAlaValPheAspArgGlyAspMetLysSe rSerAlaArgValGly	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding	9/9	1208/1357	1190/1263	397/420			chr19	TogoVar
NAV2_chr11_19707837_20126601	19860046	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0135 a0004c0135	a0004c0135t0039 a0004c0135t0039	a0004c0135t0039g0137 a0004c0135t0039g0137	1	166	0.0060	48	c.439 others(65): Show c.439-8873_439-8872insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860046	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0038 a0001c0068t0038	a0001c0068t0038g0004 a0001c0068t0038g0004	1	166	0.0060	48	c.439 others(65): Show c.439-8873_439-8872insACCTCCCTCCCGGGCGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19897886	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0018 a0001c0045t0018	a0001c0045t0018g0113 a0001c0045t0018g0113	1	166	0.0060	48	c.931 others(65): Show c.931+5293_931+5294insTTATATATATATATATATATATATATAT ATATATATATATATATATAT		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	6/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NBPF11_chr1_148097151_148157281	148112152	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATACATATATATATACATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0004 a0000c0004t0004	a0000c0004t0004g0247 a0000c0004t0004g0247	1	388	0.0026	48	c.163 others(67): Show c.1638-1612_1638-1611insTATATGTATATATATATGTATATATA TATATATATATATATATATATA		NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	15/23						chr1	TogoVar
NBPF11_chr1_148097151_148157281	148112152	G G	GTGTATAT others(41): Show GTGTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0000 a0000	a0000c0040 a0000c0040	a0000c0040t0017 a0000c0040t0017	a0000c0040t0017g0286 a0000c0040t0017g0286	1	388	0.0026	48	c.163 others(67): Show c.1638-1612_1638-1611insTATATATATATATATATATATATATA TATATATATATATATATATACA		NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	15/23						chr1	TogoVar
NBPF19_chr1_149470045_149561361	149547923	C C	CTCTCTGT others(41): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0192 a0192	a0192c0055 a0192c0055	a0192c0055t0002 a0192c0055t0002	a0192c0055t0002g0263 a0192c0055t0002g0263	1	276	0.0036	48	c.102 others(67): Show c.10275-226_10275-225insCTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	85/93					INFO_REALIGN_3_PRIME	chr1	TogoVar
NCAM1_chr11_112956420_113283436	113185079	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	242	0.0041	48	c.53- others(65): Show c.53-17299_53-17298insTATATATATATATATATATATATATATA TATATATATATATATATAGA		NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM2_chr21_20993409_21548329	21430394	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 NA19090.hp1 HG02965.hp2 HG02970.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0004 a0002c0003t0023 a0002c0002t0001 a0002c0003t0004 a0002c0003t0023	a0002c0002t0001g0019 a0002c0003t0004g0130 a0002c0003t0023g0060 a0002c0002t0001g0019 a0002c0003t0004g0130 a0002c0003t0023g0060	3	132	0.0227	48	c.148 others(67): Show c.1481-1705_1481-1704insATATATATATATATATATATATATAT ATATATATATATATATATATAT		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPD2_chr12_6489102_6536955	6518504	G G	GTTTTTGT others(41): Show GTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	432	0.0023	48	c.158 others(65): Show c.1589+550_1589+551insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT		NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	13/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(41): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	384	0.0026	48	c.-41 others(59): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCBP2L_chrX_107772733_107800829	107782224	T T	TATATATA others(41): Show TATATATATAAATATATATAAATATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	303	0.0033	48	c.-73 others(65): Show c.-73+4375_-73+4376insAATATATATAAATATATATATATAAATA TATATATATAAATATATATA		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP3_chr17_3797158_3851246	3826695	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0204 a0001c0001t0123g0204	1	370	0.0027	48	c.482 others(63): Show c.482-481_482-480insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC		NCBP3	ENSG00000074356.17	transcript	ENST00000389005.6	protein_coding	4/12						chr17	TogoVar
NCKAP1_chr2_182904115_183043457	182984423	G G	GGGGTGTG others(41): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0055 a0001c0004t0066g0055	1	218	0.0046	48	c.100 others(67): Show c.1005-1042_1005-1041insACACACACACACACACACACACACAC ACACACACACACACACACACCC		NCKAP1	ENSG00000061676.16	transcript	ENST00000361354.9	protein_coding	10/30						chr2	TogoVar
NCMAP_chr1_24551087_24614328	24604628	A A	ATGTGTGT others(41): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0395 a0002c0002t0004g0395	1	402	0.0025	48	c.168 others(63): Show c.168-977_168-976insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
NCOA6_chr20_34709774_34830651	34811201	G G	GTATGTAT others(41): Show GTATGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	290	0.0035	48	c.-16 others(69): Show c.-164+14270_-164+14271insTATATATATATATATATATATATA TATATATATATATATATATACATA		NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14						chr20	TogoVar
NCOR2_chr12_124319415_124572612	124320267	T T	TAGGTGGG others(41): Show TAGGTGGGATGACCTCTTTAGGGGTAGGTGGGATGACCTCTTTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03927.hp2 HG02602.hp1 HG03927.hp2	a0008 a0008	a0008c0020 a0008c0144 a0008c0020 a0008c0144	a0008c0020t0003 a0008c0144t0015 a0008c0020t0003 a0008c0144t0015	a0008c0020t0003g0185 a0008c0144t0015g0159 a0008c0020t0003g0185 a0008c0144t0015g0159	2	234	0.0086	48	c.51 others(59): Show c.5134_*5135insGCCCCCAAAGAGGTCATCCCACCTACCCCTAAAG AGGTCATCCCACCT		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding					4147		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124373493	A A	AATCATGA others(41): Show AATCATGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02027.hp2 others(8): Show HG00621.hp2 HG00673.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG03834.hp1 NA18940.hp2 NA18966.hp1 NA19067.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0022 a0025	a0002c0006 a0002c0016 a0002c0153 others(7): Show a0002c0006 a0002c0016 a0002c0153 a0003c0025 a0004c0095 a0005c0067 a0005c0069 a0005c0140 a0022c0130 a0025c0127	a0002c0006t0020 a0002c0016t0016 a0002c0153t0005 others(8): Show a0002c0006t0020 a0002c0016t0016 a0002c0153t0005 a0003c0025t0011 a0003c0025t0024 a0004c0095t0034 a0005c0067t0008 a0005c0069t0024 a0005c0140t0012 a0022c0130t0016 a0025c0127t0004	a0002c0006t0020g0092 a0002c0016t0016g0074 a0002c0153t0005g0219 others(8): Show a0002c0006t0020g0092 a0002c0016t0016g0074 a0002c0153t0005g0219 a0003c0025t0011g0046 a0003c0025t0024g0206 a0004c0095t0034g0209 a0005c0067t0008g0025 a0005c0069t0024g0207 a0005c0140t0012g0002 a0022c0130t0016g0047 a0025c0127t0004g0009	11	234	0.0470	48	c.221 others(65): Show c.2219-884_2219-883insGATTGTCCACTGTGCCCGGGGCCCCTGC GCACGCACTGGCCTCATGAT		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NCOR2_chr12_124319415_124572612	124428044	A A	AGTGTGTG others(41): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0045 a0003c0044t0045	a0003c0044t0045g0063 a0003c0044t0045g0063	1	234	0.0043	48	c.115 others(67): Show c.1150-1245_1150-1244insACACACACACACACACACACACACAC ACACACACACACACACACACAC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	12/48						chr12	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02300.hp2 HG02109.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0062 a0001c0001t0002g0064	2	196	0.0102	48	c.594 others(63): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17						chr1	TogoVar
NECAB1_chr8_90786775_90964393	90865017	G G	GCCCCACT others(41): Show GCCCCACTGGGAAGCACATTGTTAAGGGCAAGTTCCCCAGTGATAGGGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	248	0.0040	48	c.234 others(65): Show c.234-7102_234-7101insGAAGCACATTGTTAAGGGCAAGTTCCCC AGTGATAGGGACCCCACTGG		NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906874	C C	CATATATA others(41): Show CATATATATATATATATATGTATATATATATATATGTATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0141 a0001c0001t0018g0141	1	248	0.0040	48	c.358 others(67): Show c.358-10617_358-10616insTATATATATATATATATGTATATATA TATATATGTATGTATATATATA		NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD9_chr6_11178298_11237668	11188011	G G	GTTTAGAT others(41): Show GTTTAGATGGAACCCAGGTTACACCCAGTTGAAACTAACAAGGTCATAA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0191 a0001c0004t0002g0191	1	398	0.0025	48	c.199 others(65): Show c.1995+206_1995+207insTTATGACCTTGTTAGTTTCAACTGGGTG TAACCTGGGTTCCATCTAAA		NEDD9	ENSG00000111859.17	transcript	ENST00000379446.10	protein_coding	6/6						chr6	TogoVar
NEGR1_chr1_71390943_72287539	71928352	A A	ATATACAC others(41): Show ATATACACACATATGTATATATGTATATATACACACATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01109.hp2 others(6): Show HG00597.hp2 HG00639.hp1 HG01109.hp2 HG01884.hp1 HG02922.hp1 HG03195.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0005g0063 a0001c0002t0003g0044 a0002c0007t0001g0064	9	64	0.1406	48	c.409 others(65): Show c.409+6726_409+6727insCATATATACATATGTGTGTATATATACA TATATACATATGTGTGTATA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6						chr1	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(41): Show ATATATATATATATACATAACTGTGTTATATATATATACATAACTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0024 a0004c0005t0005 a0004c0005t0024	a0004c0005t0005g0088 a0004c0005t0024g0228 a0004c0005t0005g0088 a0004c0005t0024g0228	2	234	0.0086	48	c.201 others(67): Show c.2014+2053_2014+2054insACACAGTTATGTATATATATATAACA CAGTTATGTATATATATATATA		NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35						chr3	TogoVar
NEK1_chr4_169387809_169617583	169612703	T T	TCGGGCGG others(41): Show TCGGGCGGGGTGCTGTGCGAAGGGGCGGGCGGGGTGCTGTGCGAAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(35): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02257.hp1 HG02273.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA18974.hp1 NA19058.hp1 NA19068.hp2 NA19084.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0020 others(2): Show a0001c0001 a0001c0006 a0001c0020 a0002c0002 a0003c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0006t0004 a0001c0020t0011 a0002c0002t0003 a0003c0007t0004	a0001c0001t0002g0052 a0001c0001t0004g0023 a0001c0001t0004g0024 others(35): Show a0001c0001t0002g0052 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0031 a0001c0001t0007g0056 a0001c0006t0004g0026 a0001c0006t0004g0047 a0001c0006t0004g0048 a0001c0006t0004g0049 a0001c0006t0004g0050 a0001c0006t0004g0053 a0001c0020t0011g0157 a0002c0002t0003g0076 a0003c0007t0004g0025 a0003c0007t0004g0033 a0003c0007t0004g0034 a0003c0007t0004g0037 a0003c0007t0004g0038 a0003c0007t0004g0039	38	260	0.1462	48	c.-65 others(57): Show c.-655_-654insCCCCTTCGCACAGCACCCCGCCCGCCCCTTCGCACA GCACCCCGCCCG		NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding					121		chr4	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	324	0.0031	48	c.209 others(67): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA		NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	324	0.0031	48	c.390 others(67): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATATATATATATATATATAT		NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr15	TogoVar
NEXN_chr1_77883624_77948895	77887920	T T	TCTTCTCC others(41): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	268	0.0037	48	c.-89 others(57): Show c.-892_-891insCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					703		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887926	T T	TCTTCTCC others(41): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	268	0.0037	48	c.-88 others(57): Show c.-886_-885insCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					697		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79455746	T T	TCATGGCC others(41): Show TCATGGCCGCCCCATCCCACGGCCGCCCCATCCCACGGCCGCCCCATCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0175 a0002c0002t0003g0175	1	322	0.0031	48	c.190 others(67): Show c.1903+3932_1903+3933insTGGCCGCCCCATCCCACGGCCGCCCC ATCCCACGGCCGCCCCATCCCA		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494327	G G	GGCCGGGG others(41): Show GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0009 a0001c0056t0009	a0001c0056t0009g0137 a0001c0056t0009g0137	1	322	0.0031	48	c.278 others(67): Show c.2782+7523_2782+7570dupCGACCTGGTACCGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494635	G G	AGGCACAC others(41): Show AGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0133 a0001c0005t0009g0133	1	322	0.0031	48	c.278 others(67): Show c.2782+7697_2782+7698insAGGCACACGCCCCCCATCGACCTGGT ACCGCCGGGGGAAGGCGAGAGC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9						chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494663	C C	CGCCAGGG others(41): Show CGCCAGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0056 a0001c0005t0005g0111 a0001c0005t0005g0056 a0001c0005t0005g0111	2	322	0.0062	48	c.278 others(67): Show c.2782+7729_2782+7730insAGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26148248	G G	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	400	0.0025	48	c.-42 others(59): Show c.-4251_-4250insGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCC TCCGGGAGGGAGCT		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding					3949		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148399	G G	GCCCCCCG others(41): Show GCCCCCCGCCCGGCCAGCCGCCCCCTCCGGAGGGAGCTGGGGGGTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	400	0.0025	48	c.-41 others(59): Show c.-4100_-4099insCCCCCCGCCCGGCCAGCCGCCCCCTCCGGAGGGA GCTGGGGGGTCAGC		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding					3798		chr7	TogoVar
NFIA_chr1_61077561_61467788	61310764	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	156	0.0064	48	c.626 others(67): Show c.626-21715_626-21714insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACACA others(41): Show CACACACACATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0053 a0002c0004t0001g0053	1	156	0.0064	48	c.11 others(61): Show c.11418_*11419insACACACACATATATATATATATATATATATAT ATATATATATATATAT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding					3951		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACATA others(41): Show CACACATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	156	0.0064	48	c.11 others(61): Show c.11418_*11419insACACATATATATATATATATATATATATATAT ATATATATATATATAT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding					3951		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA19064.hp1 HG00738.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0007g0090 a0001c0001t0001g0019 a0001c0001t0007g0090	2	156	0.0128	48	c.11 others(61): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATATCTCTC		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding					3968		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19088.hp1 NA19003.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0002t0001g0150 a0001c0001t0001g0054 a0001c0002t0001g0150	2	156	0.0128	48	c.11 others(61): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATCTCTCTC		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding					3968		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	156	0.0064	48	c.11 others(61): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATCTCTCTCTC		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding					3968		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8653062	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0055 a0001c0001t0146g0055	1	366	0.0027	48	c.-16 others(69): Show c.-164+17331_-164+17332insTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTCTCTCTCTCT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232899990	T T	TCACACAC others(41): Show TCACACACACGCTCTCAGTCATATACACGTTCACTCACATTCACTCACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03516.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0016 a0001c0003 a0004c0016	a0001c0003t0019 a0004c0016t0022 a0001c0003t0019 a0004c0016t0022	a0001c0003t0019g0126 a0001c0003t0019g0159 a0004c0016t0022g0006 a0001c0003t0019g0126 a0001c0003t0019g0159 a0004c0016t0022g0006	3	362	0.0083	48	c.829 others(65): Show c.829-5075_829-5074insTGTGAGTGAATGTGAGTGAACGTGTATA TGACTGAGAGCGTGTGTGTG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232900477	C C	CGCTCTCA others(41): Show CGCTCTCACAGTCACTCATACACGTTCACTCACATTCACTTAGACACAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(21): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG02486.hp1 HG02647.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG04115.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0002c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0003t0005 a0001c0003t0019 a0001c0005t0001 a0001c0013t0001 a0002c0018t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0006g0347 others(21): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0008g0119 a0001c0001t0008g0161 a0001c0001t0008g0230 a0001c0001t0008g0346 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0236 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0001t0016g0238 a0001c0001t0025g0008 a0001c0003t0005g0344 a0001c0003t0019g0126 a0001c0003t0019g0159 a0001c0005t0001g0117 a0001c0013t0001g0027 a0001c0013t0001g0256 a0001c0013t0001g0278 a0002c0018t0002g0359	24	362	0.0663	48	c.829 others(65): Show c.829-5562_829-5561insATGTGTCTAAGTGAATGTGAGTGAACGT GTATGAGTGACTGTGAGAGC		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995078	A A	ACAGTATG others(41): Show ACAGTATGTATACTGTGTACAGAATGTATACTGTGTACAGAATGTATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp1 HG02109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0235 a0001c0001t0015g0236 a0001c0001t0008g0235 a0001c0001t0015g0236	2	362	0.0055	48	c.-75 others(67): Show c.-75+17989_-75+17990insGTATACATTCTGTACACAGTATACAT TCTGTACACAGTATACATACTG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(41): Show CTGTATATATACACTATGCAGTATGTGTACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03834.hp2 HG03239.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0001 a0001c0002t0003 a0001c0005t0001	a0001c0002t0003g0282 a0001c0005t0001g0330 a0001c0002t0003g0282 a0001c0005t0001g0330	2	362	0.0055	48	c.-75 others(67): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTACACA TACTGCATAGTGTATATATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995550	C C	CTATATAT others(41): Show CTATATATATACAGTATGTATACTATATATATACAGTATGTATACTATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0105 a0001c0005t0006g0105	1	362	0.0028	48	c.-75 others(67): Show c.-75+17517_-75+17518insTATAGTATACATACTGTATATATATA GTATACATACTGTATATATATA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(41): Show ATATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03704.hp2 HG01099.hp2 HG03704.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0007 a0002c0006t0006 a0002c0006t0007	a0002c0006t0006g0295 a0002c0006t0007g0047 a0002c0006t0006g0295 a0002c0006t0007g0047	2	362	0.0055	48	c.-75 others(67): Show c.-75+17495_-75+17496insCAGTATACATACTGTATATATATACA GTATACATACTGTATATATATA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar

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