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
HIVEP3_chr1_41501365_41923922	41824782	TATAGAGA others(27): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0046 a0008c0009t0046	a0008c0009t0046g0086 a0008c0009t0046g0086	1	124	0.0081	-34	c.-80 others(55): Show c.-801+93597_-801+93630delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824786	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0016 a0008c0009t0016	a0008c0009t0016g0082 a0008c0009t0016g0082	1	131	0.0076	-34	c.-80 others(55): Show c.-801+93593_-801+93626delTTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HLA-DPB1_chr6_33070990_33094696	33090885	GATCATTT others(27): Show GATCATTTTATGAGGTTGGTTCATTTATATTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	454	0.0022	-34	c.43 others(45): Show c.4352_*4385delATCATTTTATGAGGTTGGTTCATTTATATTTCCA	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding		1190		chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32444194	TGAGTCTA others(27): Show TGAGTCTAGGGATCTAGAAAATACATTAGAATATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(74): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01952.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02486.hp2 HG02559.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18963.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0025 others(3): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0033 a0003c0003t0002g0009	77	458	0.1681	-34	c.11 others(49): Show c.11+297_*11+330delATTAGAATATGGAGTCTAGGGATCTAGAAA ATAC	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HLCS_chr21_36743626_36971669	36888443	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	245	0.0041	-34	c.189 others(53): Show c.1892+8383_1892+8416delATATATATATATATATATATATATAT ATATATTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888445	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0003 a0001c0001t0007g0004	2	171	0.0117	-34	c.189 others(53): Show c.1892+8381_1892+8414delATATATATATATATATATATATATAT ATATATAT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HM13_chr20_31509442_31574543	31532262	TGAAAATA others(27): Show TGAAAATACAAAAACTATCAGGGTGTGGTGGCACA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	200	0.0050	-34	c.282 others(51): Show c.282+4681_282+4714delGAAAATACAAAAACTATCAGGGTGTGGT GGCACA	HM13	ENSG00000101294.19	transcript	ENST00000398174.9	protein_coding	2/12			chr20	TogoVar
HMBOX1_chr8_28885395_29058262	28960753	CTTTTTCT others(27): Show CTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp2 others(9): Show HG00140.hp2 HG00323.hp2 HG00642.hp2 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG02004.hp1 HG02293.hp1 HG02738.hp2 HG03471.hp1 HG03669.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(9): Show a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0342	12	109	0.1101	-34	c.-57 others(51): Show c.-57-3052_-57-3019delCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMGN2_chr1_26467440_26481642	26478531	GTGTATAT others(27): Show GTGTATATATATATAAATATATGTGTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02486.hp1 HG02647.hp1 others(10): Show HG00642.hp2 HG02486.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG04204.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0014 a0001c0001t0003g0002 a0001c0001t0003g0004 others(3): Show a0001c0001t0001g0014 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0016g0006	13	362	0.0359	-34	c.33 others(45): Show c.3384_*3417delTGTATATATATATAAATATATGTGTATATATATA	HMGN2	ENSG00000198830.12	transcript	ENST00000361427.6	protein_coding		1890		chr1	TogoVar
HMOX1_chr22_35376096_35399207	35389361	TTCCTTCC others(27): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0054 a0001c0011t0001g0054	1	381	0.0026	-34	c.637 others(49): Show c.637-502_637-469delTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4			chr22	TogoVar
HMOX2_chr16_4471398_4515347	4483160	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	20	0.0500	-34	c.-42 others(51): Show c.-42+6704_-42+6737delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	HMOX2	ENSG00000103415.12	transcript	ENST00000570646.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
HOMEZ_chr14_23267422_23291132	23273757	TCTCTTTT others(27): Show TCTCTTTTAGGCAAGGGCCTGTCCTGTAGCAAATG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 NA18992.hp1 HG02080.hp2 NA18992.hp1	a0002 a0005 a0002 a0005	a0002c0031 a0005c0028 a0002c0031 a0005c0028	a0002c0031t0012 a0005c0028t0012 a0002c0031t0012 a0005c0028t0012	a0002c0031t0012g0055 a0005c0028t0012g0170 a0002c0031t0012g0055 a0005c0028t0012g0170	2	392	0.0051	-34	c.17 others(45): Show c.1784_*1817delCATTTGCTACAGGACAGGCCCTTGCCTAAAAGAG	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	1784		chr14	TogoVar
HOXA10_chr7_27165605_27179320	27178199	AGAGGAAA others(27): Show AGAGGAAAAATAAAGGCTGCTTTTACATATCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-34	c.-39 others(45): Show c.-3927_-3894delGCCAGATATGTAAAAGCAGCCTTTATTTTTCCTC	HOXA10	ENSG00000253293.6	transcript	ENST00000283921.5	protein_coding		3880		chr7	TogoVar
HPSE2_chr10_98452077_99240852	99132191	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01993.hp2 NA18962.hp1 HG00673.hp2 HG01993.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0117 a0001c0001t0004g0115 a0001c0001t0001g0009 a0001c0001t0001g0117 a0001c0001t0004g0115	3	87	0.0345	-34	c.610 others(53): Show c.610+12013_610+12046delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99164227	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00673.hp1 others(10): Show HG00438.hp1 HG00597.hp1 HG00673.hp1 HG01981.hp2 HG01993.hp2 HG02809.hp1 HG03209.hp1 NA18939.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18974.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0014 a0001c0001t0001g0086 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0114 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0009g0122 a0001c0001t0016g0124 a0002c0002t0002g0061 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0013g0113	13	16	0.8125	-34	c.449 others(53): Show c.449-19862_449-19829delTATATATATATATATATATATATATA TATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRH1_chr3_11149493_11268557	11166571	ATTCTCCA others(27): Show ATTCTCCAGGCCCATGACATCTGCTGTCCCCTGGC	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18991.hp2 NA19063.hp2 NA18977.hp1 NA18991.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0315 a0001c0001t0003g0314 a0001c0001t0007g0313 a0001c0001t0001g0315 a0001c0001t0003g0314 a0001c0001t0007g0313	3	350	0.0086	-34	c.-36 others(53): Show c.-36+12062_-36+12095delCCATGACATCTGCTGTCCCCTGGCTT CTCCAGGC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11166817	GCCCATGA others(27): Show GCCCATGACATCTGCTGTCCCCTGGCTCCTCCAGA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19009.hp2 NA19081.hp1 NA18946.hp1 NA19009.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213	3	350	0.0086	-34	c.-36 others(53): Show c.-36+12268_-36+12301delTGACATCTGCTGTCCCCTGGCTCCTC CAGACCCA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11166987	GCATGACA others(27): Show GCATGACATCTACTGTCCCTTGGCTTCTCCAGGCC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 NA19043.hp1 HG02280.hp2 HG02572.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0012g0036 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0012g0036	3	350	0.0086	-34	c.-36 others(53): Show c.-36+12444_-36+12477delACTGTCCCTTGGCTTCTCCAGGCCCA TGACATCT	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11167215	CTTCTCCA others(27): Show CTTCTCCAGGCCCGTGACATCTGCTGTCCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02258.hp2 others(6): Show HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03540.hp2 NA18522.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0024 a0003c0005t0002	a0001c0001t0001g0157 a0001c0001t0001g0340 a0001c0001t0001g0347 others(6): Show a0001c0001t0001g0157 a0001c0001t0001g0340 a0001c0001t0001g0347 a0001c0001t0003g0156 a0001c0001t0014g0346 a0001c0001t0024g0348 a0003c0005t0002g0341 a0003c0005t0002g0342 a0003c0005t0002g0343	9	350	0.0257	-34	c.-36 others(53): Show c.-36+12728_-36+12761delCATTCTCCAGGCCCGTGACATCTGCT GTCCCCTG	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11167284	TTCTCCAG others(27): Show TTCTCCAGGCCCGTGACATCTGCTGTCCCCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp1 others(95): Show HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18990.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0002c0003 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0001c0002t0007 a0001c0002t0017 a0001c0004t0009 a0001c0010t0002 a0002c0003t0008 a0007c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(95): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0322 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0229 a0001c0001t0002g0338 a0001c0001t0002g0352 a0001c0001t0003g0044 a0001c0001t0003g0084 a0001c0001t0003g0336 a0001c0001t0004g0061 a0001c0001t0004g0074 a0001c0001t0004g0095 a0001c0001t0005g0037 a0001c0001t0005g0048 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0006g0060 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0011g0137 a0001c0001t0012g0036 a0001c0001t0013g0085 a0001c0001t0023g0139 a0001c0002t0007g0058 a0001c0002t0007g0059 a0001c0002t0007g0063 a0001c0002t0017g0230 a0001c0004t0009g0328 a0001c0010t0002g0091 a0002c0003t0008g0051 a0002c0003t0008g0054 a0002c0003t0008g0055 a0002c0003t0008g0056 a0007c0007t0001g0041	98	297	0.3300	-34	c.-36 others(53): Show c.-36+12932_-36+12965delGCCTCTCCAGGCCCGTGACATCTGCT GTCCCCTG	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HS2ST1_chr1_86909635_87114982	86985377	TATATATA others(27): Show TATATATACACACACACACACACATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	152	0.0066	-34	c.124 others(53): Show c.124+70225_124+70258delCACACACACACACACATATATATACA CATATATA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87048583	CGAGATTT others(27): Show CGAGATTTTTATCATGCTTCTAGTCCCAGTTTGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01106.hp2 others(10): Show HG00140.hp1 HG00408.hp2 HG01106.hp2 HG01169.hp2 HG01496.hp2 HG01981.hp1 HG02258.hp1 HG02572.hp1 HG02698.hp2 HG03492.hp2 HG03834.hp1 HG04184.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0023 a0001c0001t0001 a0001c0001t0012 a0001c0001t0023	a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0085 others(10): Show a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0023g0084	13	152	0.0855	-34	c.125 others(53): Show c.125-24267_125-24234delCTTCTAGTCCCAGTTTGCTGAGATTT TTATCATG	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST3A1_chr17_13489032_13606929	13492602	AAAAGAAA others(27): Show AAAAGAAAGAAGGAAAGAAAGAAGAAAGAACGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0004 a0001c0006t0022g0004	1	141	0.0071	-34	c.35 others(45): Show c.3561_*3594delCTTCGTTCTTTCTTCTTTCTTTCCTTCTTTCTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding		1429		chr17	TogoVar
HS6ST3_chr13_96085107_96844562	96254472	TATATATA others(27): Show TATATATATATATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	116	0.0086	-34	c.707 others(55): Show c.707+162907_707+162940delTATATATATATATATATATATATA CACATACATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96540437	CTTACATT others(27): Show CTTACATTGGATCCATTTTATCTACAAAATTATAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp2 HG01884.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0008 a0003c0005t0002 a0001c0001t0008 a0003c0005t0002	a0001c0001t0008g0015 a0003c0005t0002g0112 a0001c0001t0008g0015 a0003c0005t0002g0112	2	116	0.0172	-34	c.708 others(55): Show c.708-292052_708-292019delTTACATTGGATCCATTTTATCTAC AAAATTATAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96799948	ATATATAT others(27): Show ATATATATATATATATGTGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 HG03195.hp2 others(3): Show HG02145.hp1 HG03098.hp1 HG03195.hp2 NA18943.hp2 NA18950.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0003t0006	a0001c0001t0001g0068 a0001c0001t0005g0013 a0001c0001t0010g0019 others(3): Show a0001c0001t0001g0068 a0001c0001t0005g0013 a0001c0001t0010g0019 a0001c0001t0010g0055 a0001c0001t0019g0014 a0001c0003t0006g0033	6	94	0.0638	-34	c.708 others(53): Show c.708-32524_708-32491delGTATATATATATATATGTATATATAT ATATATGT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSDL2_chr9_112375108_112477405	112471237	CCTTAGAA others(27): Show CCTTAGAATAGGTCATTGGTATGGGCTGAACTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0199 a0001c0001t0019g0199	1	364	0.0027	-34	c.69 others(43): Show c.694_*727delCTTAGAATAGGTCATTGGTATGGGCTGAACTGTG	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	11/11	694		chr9	TogoVar
HSPA9_chr5_138548756_138580401	138574869	CTCTGTAT others(27): Show CTCTGTATTCTGTAGAGGAGCCAAAAATAAAACTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	300	0.0033	-34	c.81+ others(47): Show c.81+335_81+368delCAGTTTTATTTTTGGCTCCTCTACAGAATACA GA	HSPA9	ENSG00000113013.16	transcript	ENST00000297185.9	protein_coding	1/16			chr5	TogoVar
HSPB2_chr11_111907734_111919093	111908259	GCGTTATC others(27): Show GCGTTATCCAGAGTTCATTCAGATGTGTTCCAGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02970.hp2 HG03041.hp2 others(1): Show HG01952.hp1 HG02970.hp2 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	392	0.0102	-34	c.-45 others(45): Show c.-4570_-4537delCGTTATCCAGAGTTCATTCAGATGTGTTCCAGTC	HSPB2	ENSG00000170276.6	transcript	ENST00000304298.4	protein_coding		4474		chr11	TogoVar
HSPE1_chr2_197495379_197508449	197505634	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02818.hp1 HG02145.hp1 HG02723.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0008 a0001c0001t0001g0011	3	403	0.0074	-34	c.23 others(45): Show c.2376_*2409delTGTGTGTGTGTGTGTGTATATATATATATATATA	HSPE1	ENSG00000115541.11	transcript	ENST00000233893.10	protein_coding		2186		chr2	TogoVar
HTR1F_chr3_87787706_87998839	87810055	GTTTTATT others(27): Show GTTTTATTTTTTCTTTTGTCATTCCTTTCTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	248	0.0040	-34	c.-15 others(55): Show c.-159-11952_-159-11919delTTTTATTTTTTCTTTTGTCATTCC TTTCTCTTTT	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	1/2			chr3	TogoVar
HTT_chr4_3069681_3248957	3227273	GACAGTGC others(27): Show GACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0013 a0013	a0013c0093 a0013c0093	a0013c0093t0001 a0013c0093t0001	a0013c0093t0001g0165 a0013c0093t0001g0165	1	292	0.0034	-34	c.784 others(53): Show c.7849-1308_7849-1275delTACAGTGCCACCCCTGCCCTGTCTGG GGCTGAAG	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3227356	TCCCTGTC others(27): Show TCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(159): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0013 a0014 a0015 a0018 a0019 a0020 a0023 a0024 a0027 a0028 a0030 a0031 a0033 a0034 a0035 a0041 a0042 a0046 a0047	a0001c0002 a0001c0003 a0001c0012 others(54): Show a0001c0002 a0001c0003 a0001c0012 a0001c0027 a0001c0028 a0001c0030 a0001c0057 a0001c0060 a0001c0065 a0002c0001 a0002c0040 a0002c0041 a0002c0096 a0003c0005 a0003c0022 a0003c0035 a0003c0036 a0003c0082 a0004c0013 a0004c0019 a0004c0031 a0004c0032 a0004c0070 a0006c0011 a0006c0053 a0006c0054 a0007c0015 a0007c0039 a0007c0095 a0008c0007 a0008c0025 a0009c0010 a0009c0107 a0009c0108 a0009c0109 a0009c0110 a0013c0023 a0014c0017 a0015c0016 a0018c0042 a0019c0024 a0020c0117 a0020c0118 a0020c0119 a0023c0115 a0024c0033 a0027c0037 a0028c0105 a0030c0100 a0031c0081 a0033c0099 a0034c0044 a0035c0063 a0041c0089 a0042c0090 a0046c0071 a0047c0078	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(71): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0012t0001 a0001c0012t0028 a0001c0027t0001 a0001c0028t0001 a0001c0030t0002 a0001c0057t0001 a0001c0060t0001 a0001c0065t0001 a0002c0001t0002 a0002c0001t0013 a0002c0001t0014 a0002c0001t0022 a0002c0001t0024 a0002c0040t0002 a0002c0041t0002 a0002c0096t0002 a0003c0005t0001 a0003c0005t0027 a0003c0022t0001 a0003c0022t0019 a0003c0022t0030 a0003c0035t0001 a0003c0036t0001 a0003c0082t0001 a0004c0013t0001 a0004c0019t0001 a0004c0031t0001 a0004c0032t0001 a0004c0032t0021 a0004c0070t0001 a0006c0011t0001 a0006c0053t0001 a0006c0054t0001 a0007c0015t0001 a0007c0039t0001 a0007c0095t0001 a0008c0007t0001 a0008c0025t0002 a0009c0010t0001 a0009c0010t0004 a0009c0010t0006 a0009c0010t0020 a0009c0107t0004 a0009c0108t0001 a0009c0109t0001 a0009c0110t0001 a0013c0023t0002 a0014c0017t0001 a0014c0017t0006 a0014c0017t0020 a0015c0016t0006 a0015c0016t0009 a0018c0042t0001 a0019c0024t0002 a0020c0117t0001 a0020c0118t0019 a0020c0119t0002 a0023c0115t0001 a0024c0033t0002 a0027c0037t0005 a0028c0105t0002 a0030c0100t0014 a0031c0081t0001 a0033c0099t0001 a0034c0044t0002 a0035c0063t0025 a0041c0089t0001 a0042c0090t0001 a0046c0071t0001 a0047c0078t0002	a0001c0002t0001g0092 a0001c0002t0001g0194 a0001c0002t0001g0230 others(159): Show a0001c0002t0001g0092 a0001c0002t0001g0194 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0245 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0265 a0001c0003t0001g0084 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0201 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0218 a0001c0003t0001g0226 a0001c0003t0001g0261 a0001c0003t0003g0204 a0001c0003t0004g0200 a0001c0003t0004g0209 a0001c0012t0001g0033 a0001c0012t0001g0034 a0001c0012t0001g0208 a0001c0012t0028g0082 a0001c0027t0001g0195 a0001c0027t0001g0222 a0001c0028t0001g0213 a0001c0028t0001g0214 a0001c0030t0002g0132 a0001c0030t0002g0280 a0001c0057t0001g0268 a0001c0060t0001g0212 a0001c0065t0001g0045 a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0041 a0002c0001t0002g0102 a0002c0001t0002g0103 a0002c0001t0002g0104 a0002c0001t0002g0106 a0002c0001t0002g0107 a0002c0001t0002g0116 a0002c0001t0002g0120 a0002c0001t0002g0125 a0002c0001t0002g0126 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0131 a0002c0001t0002g0134 a0002c0001t0002g0139 a0002c0001t0002g0146 a0002c0001t0002g0148 a0002c0001t0002g0153 a0002c0001t0002g0156 a0002c0001t0002g0159 a0002c0001t0002g0160 a0002c0001t0002g0279 a0002c0001t0013g0117 a0002c0001t0013g0122 a0002c0001t0014g0136 a0002c0001t0022g0101 a0002c0001t0024g0141 a0002c0040t0002g0127 a0002c0040t0002g0135 a0002c0041t0002g0123 a0002c0041t0002g0152 a0002c0096t0002g0137 a0003c0005t0001g0043 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0051 a0003c0005t0001g0067 a0003c0005t0027g0044 a0003c0022t0001g0087 a0003c0022t0019g0193 a0003c0022t0030g0088 a0003c0035t0001g0076 a0003c0036t0001g0235 a0003c0036t0001g0242 a0003c0082t0001g0079 a0004c0013t0001g0223 a0004c0013t0001g0229 a0004c0013t0001g0248 a0004c0013t0001g0250 a0004c0019t0001g0035 a0004c0019t0001g0047 a0004c0019t0001g0052 a0004c0031t0001g0216 a0004c0031t0001g0224 a0004c0032t0001g0266 a0004c0032t0021g0228 a0004c0070t0001g0055 a0006c0011t0001g0239 a0006c0011t0001g0246 a0006c0011t0001g0251 a0006c0011t0001g0258 a0006c0053t0001g0237 a0006c0054t0001g0210 a0007c0015t0001g0110 a0007c0015t0001g0111 a0007c0015t0001g0112 a0007c0039t0001g0167 a0007c0039t0001g0170 a0007c0095t0001g0166 a0008c0007t0001g0189 a0008c0007t0001g0227 a0008c0007t0001g0231 a0008c0007t0001g0232 a0008c0007t0001g0262 a0008c0007t0001g0264 a0008c0025t0002g0271 a0008c0025t0002g0272 a0009c0010t0001g0075 a0009c0010t0004g0078 a0009c0010t0006g0211 a0009c0010t0006g0220 a0009c0010t0020g0094 a0009c0107t0004g0089 a0009c0108t0001g0199 a0009c0109t0001g0054 a0009c0110t0001g0050 a0013c0023t0002g0109 a0014c0017t0001g0196 a0014c0017t0001g0274 a0014c0017t0006g0207 a0014c0017t0020g0090 a0015c0016t0006g0221 a0015c0016t0009g0091 a0018c0042t0001g0083 a0019c0024t0002g0162 a0019c0024t0002g0163 a0019c0024t0002g0164 a0020c0117t0001g0225 a0020c0118t0019g0191 a0020c0119t0002g0192 a0023c0115t0001g0273 a0024c0033t0002g0036 a0024c0033t0002g0284 a0027c0037t0005g0077 a0027c0037t0005g0171 a0028c0105t0002g0157 a0030c0100t0014g0133 a0031c0081t0001g0215 a0033c0099t0001g0168 a0034c0044t0002g0187 a0035c0063t0025g0217 a0041c0089t0001g0169 a0042c0090t0001g0277 a0046c0071t0001g0053 a0047c0078t0002g0161	162	209	0.7751	-34	c.784 others(51): Show c.7849-805_7849-772delGCTGAAGGACAGTGCCACCCCTGCCCTG TCTGGG	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
IBSP_chr4_87794554_87817435	87813979	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0049 a0006c0006t0001g0049	1	54	0.0185	-34	c.20 others(45): Show c.2070_*2103delATATATATATATATATATATATATATATATATAT	IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding		1545		chr4	TogoVar
ID3_chr1_23552926_23564501	23554147	CCCTCCTT others(27): Show CCCTCCTTAATCTGGTTTGTCAAAGGCAACCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-34	c.42 others(45): Show c.4260_*4293delTGGGGGTTGCCTTTGACAAACCAGATTAAGGAGG	ID3	ENSG00000117318.9	transcript	ENST00000374561.6	protein_coding		3778		chr1	TogoVar
IER3_chr6_30738199_30749547	30746541	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01069.hp1 others(8): Show HG00099.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01168.hp2 HG01433.hp1 HG02735.hp1 HG03130.hp1 HG03831.hp2 HG04184.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	72	0.1528	-34	c.-20 others(45): Show c.-2057_-2024delATATATATATATATATATATATATATATATATAT	IER3	ENSG00000137331.12	transcript	ENST00000259874.6	protein_coding		1995		chr6	TogoVar
IFNLR1_chr1_24149168_24192289	24162744	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG01358.hp1 others(14): Show HG00323.hp1 HG01123.hp1 HG01358.hp1 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02738.hp1 HG02970.hp1 HG03471.hp2 HG03654.hp2 HG06807.hp1 NA18981.hp2 NA18995.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0236 others(14): Show a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0236 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0100 a0001c0002t0001g0124 a0001c0002t0001g0192	17	394	0.0431	-34	c.368 others(51): Show c.368-1094_368-1061delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFT140_chr16_1505427_1617072	1528314	CGCACGCA others(27): Show CGCACGCATGCACGCACGTGTGCACACACACGCAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0003 a0011c0012t0003	a0011c0012t0003g0051 a0011c0012t0003g0051	1	331	0.0030	-34	c.240 others(53): Show c.2400-1552_2400-1519delATGCGTGTGTGTGCACACGTGCGTGC ATGCGTGC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IFT74_chr9_26951412_27071134	27011642	GAAGTTTT others(27): Show GAAGTTTTTTTTTTTTTTTTTTGAAGGCACACAGC	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	340	0.0029	-34	c.727 others(49): Show c.727-255_727-222delTTTTTTTTTTTTTGAAGGCACACAGCAAGT TTTT	IFT74	ENSG00000096872.17	transcript	ENST00000380062.10	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
IGDCC4_chr15_65376484_65427947	65383108	TGCGCGGC others(27): Show TGCGCGGCAGCCGCGGATACAGGAAGGGCACGGGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA19005.hp1 NA19091.hp1 NA18941.hp2 NA19005.hp1 NA19091.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0009 a0005c0009t0009	a0005c0009t0009g0001 a0005c0009t0009g0001	3	350	0.0086	-34	c.86 others(43): Show c.867_*900delCCCCGTGCCCTTCCTGTATCCGCGGCTGCCGCGC	IGDCC4	ENSG00000103742.12	transcript	ENST00000352385.3	protein_coding	20/20	867		chr15	TogoVar
IGF2BP2_chr3_185638130_185830042	185751501	AATTCTCC others(27): Show AATTCTCCTGCTGAGGCAGGAGAATTGCTACTAGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02486.hp2 HG02895.hp1 HG02897.hp1 HG03704.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0163 a0001c0001t0003g0121 a0001c0001t0003g0122	5	213	0.0235	-34	c.240 others(53): Show c.240-53188_240-53155delACTAGTAGCAATTCTCCTGCCTCAGC AGGAGAAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(27): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19085.hp2 HG02451.hp2 NA19085.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0012 a0002c0003 a0003c0012	a0002c0003t0001 a0003c0012t0006 a0002c0003t0001 a0003c0012t0006	a0002c0003t0001g0222 a0003c0012t0006g0284 a0002c0003t0001g0222 a0003c0012t0006g0284	2	22	0.0909	-34	c.684 others(53): Show c.6843-1795_6843-1762delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47			chr6	TogoVar
IKBKE_chr1_206465476_206501889	206486413	AGGATCGA others(27): Show AGGATCGAGGTCCTGTCCTTTTGGATGAAGGCTGC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp1 HG02004.hp2 others(1): Show HG00642.hp2 HG01358.hp1 HG02004.hp2 HG04199.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0358 a0001c0014t0002g0359 a0001c0014t0002g0360 others(1): Show a0001c0014t0002g0358 a0001c0014t0002g0359 a0001c0014t0002g0360 a0001c0014t0002g0361	4	458	0.0087	-34	c.161 others(53): Show c.1616+1113_1616+1146delGAGGTCCTGTCCTTTTGGATGAAGGC TGCGGATC	IKBKE	ENSG00000263528.8	transcript	ENST00000581977.7	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
IKZF2_chr2_212994698_213156612	213019752	TGGTTCCA others(27): Show TGGTTCCAGCTTCAGCACCACCTGTAAAGGGCCTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0151 a0001c0001t0050g0151	1	252	0.0040	-34	c.712 others(51): Show c.712+2207_712+2240delCAGGCCCTTTACAGGTGGTGCTGAAGCT GGAACC	IKZF2	ENSG00000030419.17	transcript	ENST00000434687.6	protein_coding	7/8			chr2	TogoVar
IKZF2_chr2_212994698_213156612	213124228	GCACACAT others(27): Show GCACACATGCGCTCGCGCGCGCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0074 a0001c0001t0028g0133 a0001c0001t0028g0074 a0001c0001t0028g0133	2	250	0.0080	-34	c.139 others(53): Show c.139+23446_139+23479delTGTGTGTGTGCGCGCGCGCGCGAGCG CATGTGTG	IKZF2	ENSG00000030419.17	transcript	ENST00000434687.6	protein_coding	4/8			chr2	TogoVar
IK_chr5_140642829_140667480	140660713	AGGGTCAG others(27): Show AGGGTCAGGGTATGCAACATCTGTTTAACTCTTGC	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0082 a0004c0004t0001g0082	1	378	0.0026	-34	c.135 others(49): Show c.1356-44_1356-11delGGGTCAGGGTATGCAACATCTGTTTAACTC TTGC	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	15/19			chr5	TogoVar
IL10RA_chr11_117981394_118006483	118001092	AAAGTACT others(27): Show AAAGTACTCTTAGGTGCCAGTCTGGTAACTGAACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0002 a0002c0002t0010g0002	1	424	0.0024	-34	c.14 others(45): Show c.1452_*1485delAAGTACTCTTAGGTGCCAGTCTGGTAACTGAACT	IL10RA	ENSG00000110324.12	transcript	ENST00000227752.8	protein_coding	7/7	1452		chr11	TogoVar
IL11_chr19_55359382_55375463	55361945	CAGACCCA others(27): Show CAGACCCAGGAGTCCAGGGCCCTTAGCTCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01071.hp2 others(27): Show HG00408.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01884.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp2 NA18943.hp1 NA19083.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016	a0001c0001t0002g0013 a0001c0001t0003g0016 a0001c0001t0003g0028 others(12): Show a0001c0001t0002g0013 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0004g0004 a0001c0001t0005g0007 a0001c0001t0005g0018 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0083 a0001c0001t0012g0029 a0001c0001t0014g0073 a0001c0001t0014g0091 a0001c0001t0016g0078	30	349	0.0860	-34	c.40 others(45): Show c.4028_*4061delAGGGAGGAGCTAAGGGCCCTGGACTCCTGGGTCT	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		2436		chr19	TogoVar
IL12RB2_chr1_67302873_67403724	67386870	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(109): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19076.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0012	a0001c0002 a0001c0011 a0001c0016 others(7): Show a0001c0002 a0001c0011 a0001c0016 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0006c0012 a0011c0026 a0012c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0011t0008 a0001c0016t0002 a0001c0020t0003 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0006c0012t0001 a0011c0026t0001 a0012c0022t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 others(109): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0207 a0001c0002t0002g0214 a0001c0002t0002g0223 a0001c0002t0002g0262 a0001c0002t0002g0279 a0001c0002t0002g0289 a0001c0002t0002g0298 a0001c0002t0002g0316 a0001c0002t0002g0326 a0001c0002t0006g0003 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0197 a0001c0002t0006g0206 a0001c0002t0010g0058 a0001c0002t0010g0112 a0001c0002t0010g0143 a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0024g0205 a0001c0002t0025g0004 a0001c0002t0026g0141 a0001c0011t0008g0280 a0001c0011t0008g0281 a0001c0011t0008g0320 a0001c0016t0002g0294 a0001c0020t0003g0028 a0001c0021t0001g0021 a0001c0023t0001g0115 a0001c0024t0001g0111 a0006c0012t0001g0040 a0006c0012t0001g0172 a0011c0026t0001g0011 a0012c0022t0001g0157	112	342	0.3275	-34	c.194 others(51): Show c.1946+203_1946+236delTTATATATATATATATATATATATATAT ATATAT	IL12RB2	ENSG00000081985.14	transcript	ENST00000674203.2	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL1R2_chr2_101986960_102033544	101992466	CAGAGAGA others(27): Show CAGAGAGACAGAGAGAGGCAGAGAGACAGAGATGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03209.hp2 others(1): Show HG01891.hp2 HG02922.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0037 a0001c0001t0001g0338 a0001c0001t0001g0339	4	423	0.0095	-34	c.-62 others(49): Show c.-62+538_-62+571delAGGCAGAGAGACAGAGATGGAGAGAGACAG AGAG	IL1R2	ENSG00000115590.14	transcript	ENST00000332549.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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