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
HIF3A_chr19_46292042_46348433	46324917	C C	CATATATA others(23): Show CATATATATATACACATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 HG02818.hp2 others(3): Show HG00558.hp2 HG02132.hp2 HG02818.hp2 NA18906.hp2 NA18969.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0004 a0002c0004t0024 a0002c0002t0002 a0002c0004t0004 a0002c0004t0024	a0002c0002t0002g0090 a0002c0002t0002g0137 a0002c0002t0002g0147 others(3): Show a0002c0002t0002g0090 a0002c0002t0002g0137 a0002c0002t0002g0147 a0002c0002t0002g0310 a0002c0004t0004g0160 a0002c0004t0024g0391	6	418	0.0144	30	c.133 others(47): Show c.1336-600_1336-571dupTATATATACATATATATATATATACACA TA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIF3A_chr19_46292042_46348433	46324927	T T	TACACATA others(23): Show TACACATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0037 a0001c0006t0037	a0001c0006t0037g0347 a0001c0006t0037g0347	1	418	0.0024	30	c.133 others(47): Show c.1336-579_1336-578insCACACATATATATATACATATATATATA TA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	398	0.0025	30	c.268 others(49): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02523.hp1 others(3): Show HG02015.hp1 HG02015.hp2 HG02523.hp1 HG02602.hp1 NA18997.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0177 a0001c0001t0003g0180 others(2): Show a0001c0001t0003g0053 a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190	6	404	0.0149	30	c.182 others(47): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75595283	C C	CCTTCCTT others(23): Show CCTTCCTTCCTTCCTTTCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01258.hp1 HG02723.hp1 others(2): Show HG00408.hp2 HG01258.hp1 HG02723.hp1 HG03471.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0005t0009	a0001c0001t0001g0218 a0001c0001t0002g0029 a0001c0001t0002g0163 others(2): Show a0001c0001t0001g0218 a0001c0001t0002g0029 a0001c0001t0002g0163 a0001c0002t0004g0048 a0001c0005t0009g0060	5	254	0.0197	30	c.185 others(47): Show c.185-2770_185-2769insAGAGAAAAAGAAAGAAAGGAAGGAAGGA AG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIPK3_chr11_33252381_33362023	33301821	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02698.hp1 NA18966.hp1 others(2): Show HG02300.hp2 HG02698.hp1 NA18966.hp1 NA18979.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0035 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0035 a0001c0001t0003g0088 a0001c0001t0004g0021	5	342	0.0146	30	c.109 others(51): Show c.1097+14315_1097+14344dupACACACACACACACACACACACAC ACACAC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK4_chr19_40374271_40395181	40389061	T T	TCCCGACT others(23): Show TCCCGACTGGTGGACGGTGCAGGCCATGGTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	382	0.0026	30	c.465 others(45): Show c.465+376_465+377insTACCATGGCCTGCACCGTCCACCAGTCGGG	HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding	1/3			chr19	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0341 a0001c0001t0003g0341	1	364	0.0028	30	c.936 others(47): Show c.936+1499_936+1500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24			chr22	TogoVar
HIVEP2_chr6_142746469_142950176	142793673	T T	TTTTTTTT others(23): Show TTTTTTTTTTCTTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	288	0.0035	30	c.-52 others(51): Show c.-527-10059_-527-10058insGAGAGAGAGAAAGAAAGAAAGAAA AAAAAA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41544828	C C	CCACCACC others(23): Show CCACCACCACCTCTACCACCACTGCTACCAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0039 a0019c0039t0039	a0019c0039t0039g0008 a0019c0039t0039g0008	1	134	0.0075	30	c.520 others(51): Show c.5208-19919_5208-19918insATGGTAGCAGTGGTGGTAGAGGTG GTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544831	T T	TCACCACC others(23): Show TCACCACCACCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0103 a0002c0002t0032g0103	1	134	0.0075	30	c.520 others(51): Show c.5208-19922_5208-19921insGTGGTGGTGGTGGTGGTGGTGGTG GTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544864	C C	CTACCACT others(23): Show CTACCACTACCTCTACCTCCACTGCTACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG02056.hp1 others(2): Show HG00639.hp2 HG01109.hp2 HG02056.hp1 NA18950.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0073 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0073 a0001c0001t0076	a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0012g0010 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0012g0010 a0001c0001t0073g0116 a0001c0001t0076g0098	5	134	0.0373	30	c.520 others(51): Show c.5208-19955_5208-19954insATGGTAGCAGTGGAGGTAGAGGTA GTGGTA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01361.hp1 others(9): Show HG00408.hp2 HG01123.hp1 HG01361.hp1 HG02040.hp2 HG03098.hp2 NA18964.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18998.hp1 NA19006.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0045 a0001c0001 a0003c0003 a0003c0045	a0001c0001t0002 a0003c0003t0003 a0003c0003t0050 others(1): Show a0001c0001t0002 a0003c0003t0003 a0003c0003t0050 a0003c0045t0008	a0001c0001t0002g0048 a0001c0001t0002g0181 a0001c0001t0002g0193 others(9): Show a0001c0001t0002g0048 a0001c0001t0002g0181 a0001c0001t0002g0193 a0001c0001t0002g0228 a0003c0003t0003g0069 a0003c0003t0003g0206 a0003c0003t0003g0240 a0003c0003t0003g0268 a0003c0003t0003g0288 a0003c0003t0003g0381 a0003c0003t0050g0302 a0003c0045t0008g0261	12	394	0.0305	30	c.183 others(47): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-DRA_chr6_32434887_32450046	32449677	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03486.hp2 HG02486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0009	2	459	0.0044	30	c.50 others(41): Show c.5037_*5038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4632		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32577251	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0003 a0009c0009t0007g0003	1	208	0.0048	30	c.18 others(41): Show c.1839_*1840insTATATATATATATATATATATATATATATA	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		1523		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722746	G G	GAGAAGAA others(23): Show GAGAAGAAGAGGAAGAGGAAGAGGAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA18971.hp2 NA19090.hp1 HG01981.hp1 NA18971.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0002 a0001c0001t0001g0009	3	443	0.0068	30	c.-71 others(39): Show c.-718_-717insAGAAGAAGAGGAAGAGGAAGAGGAAGAAGA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		687		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722758	G G	GAGAAGAA others(23): Show GAGAAGAAGAGGAAGAGGAAGAAGAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	443	0.0023	30	c.-70 others(39): Show c.-706_-705insAGAAGAAGAGGAAGAGGAAGAAGAAGAAGA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		675		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722774	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18975.hp1 NA18955.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0004t0001g0001 a0001c0001t0001g0001 a0001c0004t0001g0001	2	443	0.0045	30	c.-69 others(39): Show c.-690_-689insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		659		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722795	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	443	0.0023	30	c.-66 others(39): Show c.-669_-668insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		638		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722801	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	443	0.0023	30	c.-66 others(39): Show c.-663_-662insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		632		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722804	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0002 a0011c0009t0001g0002	1	443	0.0023	30	c.-66 others(39): Show c.-660_-659insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		629		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01934.hp2 HG02293.hp1 HG01123.hp1 HG01934.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	479	0.0063	30	c.71 others(39): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HLCS_chr21_36743626_36971669	36823610	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0035 a0008c0012t0035	a0008c0012t0035g0069 a0008c0012t0035g0069	1	258	0.0039	30	c.189 others(51): Show c.1893-56355_1893-56326dupACACACACACACACACACACACAC ACACAC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLF_chr17_55259960_55330187	55270683	C C	CGGAGTCT others(23): Show CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	408	0.0025	30	c.451 others(47): Show c.451+2599_451+2628dupGAGTCTCGCTCTGTCGCCCAGGCTGGAG TG	HLF	ENSG00000108924.14	transcript	ENST00000226067.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
HMBOX1_chr8_28885395_29058262	28926304	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	344	0.0029	30	c.-58 others(49): Show c.-58+35627_-58+35628insTATATATATATATATATATATACACA CACA	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	28973813	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	344	0.0029	30	c.500 others(47): Show c.500+3305_500+3306insGTTTTTTTTTTTTTTTTTGTTTTTTTTT TT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG01168.hp2 others(15): Show HG00280.hp2 HG00558.hp1 HG01168.hp2 HG02809.hp1 HG03041.hp2 HG03486.hp2 NA18522.hp1 NA18941.hp1 NA18946.hp2 NA18968.hp1 NA18973.hp1 NA18981.hp2 NA18985.hp2 NA18992.hp2 NA19002.hp1 NA19002.hp2 NA19057.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0217 a0001c0001t0001g0277 a0001c0001t0001g0323 others(15): Show a0001c0001t0001g0217 a0001c0001t0001g0277 a0001c0001t0001g0323 a0001c0001t0002g0083 a0001c0001t0002g0134 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0222 a0001c0001t0002g0245 a0001c0001t0002g0296 a0001c0001t0002g0319 a0001c0001t0003g0121 a0001c0001t0003g0326 a0001c0001t0005g0177 a0001c0001t0005g0230 a0001c0001t0006g0337 a0001c0001t0006g0339 a0001c0001t0009g0129	18	344	0.0523	30	c.587 others(47): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT AT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMGCLL1_chr6_55429373_55584192	55477449	A A	ATATATTA others(23): Show ATATATTACATATAATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	334	0.0030	30	c.795 others(49): Show c.795+17940_795+17969dupATATATATATTATATATTATATGTAA TATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATAGATA others(23): Show GATAGATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	414	0.0024	30	c.57 others(41): Show c.5742_*5743insATATATATATATATATATATATATATCTAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01070.hp1 others(11): Show HG00323.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01993.hp1 HG02083.hp2 HG02630.hp2 HG03017.hp1 HG03130.hp2 HG03942.hp2 NA18612.hp2 NA19067.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0005g0093 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0005g0093 a0001c0001t0006g0111 a0001c0001t0009g0036 a0001c0001t0011g0022 a0002c0002t0001g0026	14	414	0.0338	30	c.57 others(41): Show c.5742_*5743insATATATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39345109	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	414	0.0024	30	c.255 others(43): Show c.255+36_255+37insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding	5/5			chr21	TogoVar
HMGN3_chr6_79196245_79239682	79238247	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp1 HG01192.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0146 a0001c0001t0001g0043 a0001c0001t0001g0146	2	322	0.0062	30	c.-36 others(41): Show c.-3688_-3687insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HMGN3	ENSG00000118418.16	transcript	ENST00000620514.2	protein_coding		3566		chr6	TogoVar
HMGN5_chrX_81108699_81206913	81153550	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	225	0.0044	30	c.-12 others(51): Show c.-123-31908_-123-31879dupAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMGN5_chrX_81108699_81206913	81153583	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	225	0.0044	30	c.-12 others(51): Show c.-123-31912_-123-31911insTATATAGAGAGAGAGAGAGAGAGA GAGAGA	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02293.hp1 HG02293.hp2 others(1): Show HG02080.hp1 HG02293.hp1 HG02293.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0056 a0001c0002t0001g0035 a0001c0001t0001g0056 a0001c0002t0001g0035	4	458	0.0087	30	c.38- others(43): Show c.38-159_38-130dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMOX1_chr22_35376096_35399207	35380833	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	384	0.0026	30	c.-34 others(39): Show c.-341_-340insTGTGTGTGTGTGTGTGTGTGTGTGTGTATG	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		262		chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389229	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0041 a0001c0011t0001g0041	1	384	0.0026	30	c.637 others(45): Show c.637-624_637-623insCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMX2_chr10_123143136_123155672	123143603	A A	AGGCGCCT others(23): Show AGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	30	c.-47 others(41): Show c.-4776_-4775insGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	HMX2	ENSG00000188816.4	transcript	ENST00000339992.4	protein_coding		4532		chr10	TogoVar
HMX3_chr10_123130970_123144423	123143603	A A	AGGCGCCT others(23): Show AGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	464	0.0022	30	c.58 others(41): Show c.5872_*5873insGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	HMX3	ENSG00000188620.11	transcript	ENST00000357878.7	protein_coding		4181		chr10	TogoVar
HNF4A_chr20_44350699_44437845	44388374	C C	CCCCCCCC others(23): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0128 a0001c0001t0036g0128	1	322	0.0031	30	c.50- others(47): Show c.50-17678_50-17677insCCCCCCCCCCCCCCCCCCCCCCCACCCC CC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPCL1_chr1_12842377_12853720	12851879	A A	ACCGACCA others(23): Show ACCGACCATGTAGAGAAGCATAAAGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0020 a0010c0012t0001g0020	1	354	0.0028	30	c.-33 others(41): Show c.-3381_-3380insCCCCACCTTTATGCTTCTCTACATGGTCGG	HNRNPCL1	ENSG00000179172.10	transcript	ENST00000317869.7	protein_coding		3160		chr1	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18970.hp2 NA18993.hp2 others(2): Show NA18939.hp1 NA18970.hp2 NA18993.hp2 NA18995.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0148 a0001c0001t0003g0001 a0001c0001t0002g0003 a0001c0001t0002g0148 a0001c0001t0003g0001	5	332	0.0151	30	c.62 others(41): Show c.6213_*6214insTATATATATATATATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPH2_chrX_101403222_101419133	101407461	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01952.hp1 HG01993.hp1 others(6): Show HG00438.hp2 HG01952.hp1 HG01993.hp1 HG02559.hp1 NA18747.hp1 NA18967.hp1 NA18975.hp1 NA18995.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0020 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0003g0002 a0001c0001t0003g0030	9	308	0.0292	30	c.-91 others(39): Show c.-912_-911insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	HNRNPH2	ENSG00000126945.9	transcript	ENST00000316594.6	protein_coding		760		chrX	TogoVar
HNRNPR_chr1_23299688_23349284	23321163	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	354	0.0028	30	c.811 others(45): Show c.811+364_811+365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	7/10			chr1	TogoVar
HNRNPR_chr1_23299688_23349284	23336116	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	354	0.0028	30	c.384 others(47): Show c.384+1637_384+1638insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	4/10			chr1	TogoVar
HOMER2_chr15_82843983_82957720	82860956	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03579.hp1 others(4): Show HG02572.hp1 HG02622.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0176 a0001c0001t0001g0318 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0176 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0010g0161 a0001c0009t0001g0169 a0002c0002t0001g0336	7	348	0.0201	30	c.388 others(47): Show c.388-1822_388-1821insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82860977	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03492.hp2 HG03471.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0001 a0001c0003t0003 a0002c0002t0001	a0001c0003t0003g0009 a0002c0002t0001g0333 a0001c0003t0003g0009 a0002c0002t0001g0333	2	348	0.0058	30	c.388 others(47): Show c.388-1843_388-1842insTTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp2 HG01884.hp2 others(13): Show HG00099.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02273.hp2 HG03130.hp2 HG03516.hp2 HG04204.hp2 NA18906.hp1 NA18983.hp2 NA19007.hp1 NA19009.hp2 NA19085.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0004c0004t0001	a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0153 a0001c0001t0001g0215 a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0321 a0001c0001t0002g0155 a0001c0001t0004g0269 a0001c0001t0006g0261 a0001c0001t0011g0279 a0004c0004t0001g0148	16	348	0.0460	30	c.295 others(47): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03017.hp1 NA18965.hp1 HG00738.hp2 HG03017.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0164	3	348	0.0086	30	c.295 others(47): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA AA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	348	0.0029	30	c.295 others(47): Show c.295-4283_295-4282insAATATATATATATATATATATATATATA TA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar

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