Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(41): Show GTTTTGTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	47	0.0213	48	c.104 others(69): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTGTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGGAGGG others(41): Show GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	218	0.0046	48	c.-38 others(59): Show c.-3848_-3847insGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3612		chr12	TogoVar
HINT3_chr6_125951770_125985244	125962215	T T	TATATATA others(41): Show TATATATATATATATATATATACACATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	210	0.0048	48	c.202 others(65): Show c.202-4653_202-4652insTACACATATATATATATATATATATACA CATATATATATATATATATA		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HIP1_chr7_75528298_75743941	75595187	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	208	0.0048	48	c.185 others(65): Show c.185-2721_185-2674dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30						chr7	TogoVar
HIP1_chr7_75528298_75743941	75664466	G G	GTGTATAC others(41): Show GTGTATACGTATACACACATATATACACATACATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18946.hp1 NA19000.hp2 HG00438.hp2 NA18946.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0079	3	221	0.0136	48	c.121 others(67): Show c.121-65267_121-65220dupTACACATACATATATATGTATGTGTA TATATGTGTGTATACGTATACA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(41): Show TCTACCACCACCATCACTACTACCACCACCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0041 a0004c0006t0041	a0004c0006t0041g0091 a0004c0006t0041g0091	1	19	0.0526	48	c.520 others(69): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HK1_chr10_69273496_69406882	69332357	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01993.hp2 HG02258.hp1 others(2): Show HG00423.hp2 HG01993.hp2 HG02258.hp1 HG03225.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0008	a0001c0001t0001g0249 a0001c0001t0002g0081 a0001c0001t0002g0193 others(2): Show a0001c0001t0001g0249 a0001c0001t0002g0081 a0001c0001t0002g0193 a0001c0002t0001g0200 a0001c0005t0008g0031	5	212	0.0236	48	c.76- others(65): Show c.76-11443_76-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT		HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69332357	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01993.hp2 HG02258.hp2 others(2): Show HG00423.hp1 HG01993.hp2 HG02258.hp2 HG03225.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0127 a0001c0002t0001g0009 a0001c0005t0001g0166	5	228	0.0219	48	c.64- others(65): Show c.64-11443_64-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT		HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
HK2_chr2_74829127_74898359	74882604	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0162 a0001c0006t0003g0162	1	392	0.0026	48	c.183 others(65): Show c.1839+365_1839+366insATATATATATATATATATATATATATAT ATATATATATATATATATAT		HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17						chr2	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02717.hp2 HG02809.hp2 others(6): Show HG01123.hp2 HG02717.hp2 HG02809.hp2 HG03540.hp1 HG03831.hp2 NA18941.hp1 NA18946.hp1 NA18979.hp1 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0002c0026 others(1): Show a0001c0001 a0002c0004 a0002c0026 a0003c0003	a0001c0001t0002 a0002c0004t0004 a0002c0004t0006 others(3): Show a0001c0001t0002 a0002c0004t0004 a0002c0004t0006 a0002c0004t0010 a0002c0026t0013 a0003c0003t0003	a0001c0001t0002g0046 a0001c0001t0002g0150 a0001c0001t0002g0170 others(6): Show a0001c0001t0002g0046 a0001c0001t0002g0150 a0001c0001t0002g0170 a0002c0004t0004g0174 a0002c0004t0004g0368 a0002c0004t0006g0092 a0002c0004t0010g0247 a0002c0026t0013g0258 a0003c0003t0003g0062	9	136	0.0662	48	c.183 others(65): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATATATATATATA		HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-B_chr6_31348875_31362179	31360137	T T	TTTTCAGA others(41): Show TTTTCAGAATTCCCTAGTGTTTTCTACATATGCAATGAAGTTGGTGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01884.hp2 others(8): Show HG00140.hp1 HG00741.hp1 HG01884.hp2 HG02080.hp1 HG02083.hp2 HG02809.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA19240.hp2	a0020 a0029 a0020 a0029	a0020c0018 a0029c0032 a0020c0018 a0029c0032	a0020c0018t0013 a0029c0032t0013 a0020c0018t0013 a0029c0032t0013	a0020c0018t0013g0016 a0029c0032t0013g0053 a0029c0032t0013g0054 a0020c0018t0013g0016 a0029c0032t0013g0053 a0029c0032t0013g0054	11	466	0.0236	48	c.-30 others(59): Show c.-3027_-2980dupTGTCACCAACTTCATTGCATATGTAGAAAACACT AGGGAATTCTGAAA		HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding					2959		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722774	G G	GGAAGAAG others(41): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	48	c.-69 others(57): Show c.-690_-689insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					659		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(41): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp1 HG02559.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0033 a0003c0005t0001 a0002c0002t0033 a0003c0005t0001	a0002c0002t0033g0238 a0003c0005t0001g0060 a0002c0002t0033g0238 a0003c0005t0001g0060	2	170	0.0118	48	c.189 others(69): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC		HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10						chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAGGAA others(41): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp1 HG03540.hp2 HG02895.hp2 HG02965.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0010 a0001c0001t0044 a0003c0005t0003 a0001c0001t0010 a0001c0001t0044 a0003c0005t0003	a0001c0001t0010g0019 a0001c0001t0044g0016 a0003c0005t0003g0020 a0001c0001t0010g0019 a0001c0001t0044g0016 a0003c0005t0003g0020	3	171	0.0175	48	c.189 others(69): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCCTTC		HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10						chr21	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCCCTCC others(41): Show GTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02155.hp1 HG01169.hp1 HG02155.hp1	a0001 a0004 a0001 a0004	a0001c0039 a0004c0194 a0001c0039 a0004c0194	a0001c0039t0001 a0004c0194t0002 a0001c0039t0001 a0004c0194t0002	a0001c0039t0001g0084 a0004c0194t0002g0186 a0001c0039t0001g0084 a0004c0194t0002g0186	2	120	0.0167	48	c.235 others(67): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(41): Show GTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0076 a0076	a0076c0155 a0076c0155	a0076c0155t0002 a0076c0155t0002	a0076c0155t0002g0189 a0076c0155t0002g0189	1	119	0.0084	48	c.235 others(67): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0109 a0002c0109	a0002c0109t0001 a0002c0109t0001	a0002c0109t0001g0029 a0002c0109t0001g0029	1	117	0.0085	48	c.235 others(67): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCTTTCTTTC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02723.hp1 NA18983.hp1 HG01361.hp2 HG02723.hp1 NA18983.hp1	a0001 a0013 a0060 a0001 a0013 a0060	a0001c0016 a0013c0027 a0060c0092 a0001c0016 a0013c0027 a0060c0092	a0001c0016t0001 a0013c0027t0002 a0060c0092t0001 a0001c0016t0001 a0013c0027t0002 a0060c0092t0001	a0001c0016t0001g0043 a0013c0027t0002g0253 a0060c0092t0001g0031 a0001c0016t0001g0043 a0013c0027t0002g0253 a0060c0092t0001g0031	3	119	0.0252	48	c.235 others(67): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTTCTTTCTTTCTTTCTTTC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55477421	T T	TAATATAT others(41): Show TAATATATATTATATATAATATAATATATATTATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00642.hp1 others(41): Show HG00408.hp1 HG00438.hp1 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01496.hp2 HG01934.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp2 HG03486.hp2 HG03516.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18970.hp2 NA18985.hp1 NA18986.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19077.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0096 others(41): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0206 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288	44	315	0.1397	48	c.795 others(67): Show c.795+17997_795+17998insTATATTATATATAATATAATATATAT TATATTATATATAATATATATT		HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8						chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02451.hp2 NA18949.hp1 HG01361.hp2 HG02451.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0004g0004 a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0004g0004	3	112	0.0268	48	c.57 others(59): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATATATATATAT		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					4945		chr21	TogoVar
HNF1B_chr17_37681431_37750059	37729966	C C	CCCTGCTC others(41): Show CCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	342	0.0029	48	c.104 others(67): Show c.1045+1581_1045+1628dupTGCTGACAGGAGACCCAGAGAGCTAG GGCTGGAGGGACAGGGAGCAGG		HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding	4/8						chr17	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03209.hp2 NA18984.hp2 HG02896.hp1 HG03209.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0049 a0001c0001t0002g0122 a0001c0001t0002g0025 a0001c0001t0002g0049 a0001c0001t0002g0122	3	25	0.1200	48	c.62 others(59): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TATATATATATATA		HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding					4526		chr4	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	125	0.0080	48	c.295 others(65): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TATATATATATATATATATA		HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8						chr15	TogoVar
HOXA1_chr7_27087993_27101000	27100114	A A	AAAAGAAA others(41): Show AAAAGAAAGAGGAGAAGAAGAAGCAAAAAAGAAAGAAAAAACACTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	48	c.-42 others(59): Show c.-4203_-4202insAATAAGTGTTTTTTCTTTCTTTTTTGCTTCTTCT TCTCCTCTTTCTTT		HOXA1	ENSG00000105991.10	transcript	ENST00000643460.2	protein_coding					4115		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(41): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19043.hp1 NA18950.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0230 a0001c0001t0002g0168 a0001c0001t0002g0230	2	15	0.1333	48	c.-39 others(63): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCT		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5						chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(41): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA19043.hp2 NA18950.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0003g0003 a0001c0001t0005g0005	2	16	0.1250	48	c.18 others(59): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT		HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding					1050		chr7	TogoVar
HOXC10_chr12_53980146_53995279	53994112	G G	GTGCCCTC others(41): Show GTGCCCTCCGGGATAGCATAGAGAGAGACTAGAGACAGATAGACCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	48	c.46 others(59): Show c.4666_*4667insTGCCCTCCGGGATAGCATAGAGAGAGACTAGAGA CAGATAGACCCCGC		HOXC10	ENSG00000180818.5	transcript	ENST00000303460.5	protein_coding					3834		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(41): Show TTCTCTTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	1	146	0.0068	48	c.26 others(59): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTCTCTCTCTC TCTCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HPF1_chr4_169724470_169762944	169762521	A A	ACAACAAC others(41): Show ACAACAACAACGGAGAGGAGGAAAAGAGAGAGATACACACGCGAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	318	0.0031	48	c.-46 others(59): Show c.-4645_-4644insCTGTCTCGCGTGTGTATCTCTCTCTTTTCCTCCT CTCCGTTGTTGTTG		HPF1	ENSG00000056050.7	transcript	ENST00000393381.3	protein_coding					4578		chr4	TogoVar
HPSE2_chr10_98452077_99240852	99132229	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	107	0.0093	48	c.610 others(67): Show c.610+12008_610+12009insTCTTTCTTTCTTTCTTTCTTTCTTTT TCTTTTCTTTCTTTCTTTCTTT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HRCT1_chr9_35901202_35912136	35906547	T T	TCCACCAC others(41): Show TCCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0000 a0011c0011t0001g0000	1	418	0.0024	48	c.269 others(55): Show c.269_316dupACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACC	p.His others(12): Show p.His90_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(41): Show ACCACCACCACCACCCCCACCGCCACCCCCACCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	387	0.0026	48	c.328 others(55): Show c.328_329insCCCACCACACCCCTCACCACCTCCACCACCACCACCCC CACCGCCACC	p.His others(61): Show p.His109_His110insProHisHisThrProHisHisLeuHisHisHi sHisProHisArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	415/935	329/348	110/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906595	A A	ACCACCAC others(41): Show ACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18950.hp1 NA18950.hp1	a0006 a0006	a0006c0049 a0006c0049	a0006c0049t0001 a0006c0049t0001	a0006c0049t0001g0000 a0006c0049t0001g0000	1	422	0.0024	48	c.316 others(55): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CCCCACCACC	p.His others(61): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisProHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRH3_chr20_62209960_62225278	62213123	G G	GGTGGGGG others(41): Show GGTGGGGGAAGGAGAGCGGGGATGGGGGGTAAGGAGAGCGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	358	0.0028	48	c.28 others(59): Show c.2882_*2883insACCCATCCCCGCTCTCCTTACCCCCCATCCCCGC TCTCCTTCCCCCAC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1836		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213563	G G	GGGGGGAA others(41): Show GGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	353	0.0028	48	c.24 others(59): Show c.2442_*2443insACCCATCCCCACTCTCCTTCCCCCACCCATCCCC ACTCTCCTTCCCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1396		chr20	TogoVar
HRURF_chr8_22125458_22136010	22130954	T T	TAGAGCGC others(41): Show TAGAGCGCGGCGGAGAGCGCGGCGGAGAGCGCGGCGGAGAGCGCGGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	405	0.0025	48	c.-24 others(57): Show c.-247_-246insCCGCCGCGCTCTCCGCCGCGCTCTCCGCCGCGCTCT CCGCCGCGCTCT		HRURF	ENSG00000288677.2	transcript	ENST00000518377.3	protein_coding	1/1				247		chr8	TogoVar
HR_chr8_22109419_22136010	22130954	T T	TAGAGCGC others(41): Show TAGAGCGCGGCGGAGAGCGCGGCGGAGAGCGCGGCGGAGAGCGCGGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0027 a0027	a0027c0034 a0027c0034	a0027c0034t0028 a0027c0034t0028	a0027c0034t0028g0117 a0027c0034t0028g0117	1	405	0.0025	48	c.-56 others(57): Show c.-568_-567insCCGCCGCGCTCTCCGCCGCGCTCTCCGCCGCGCTCT CCGCCGCGCTCT		HR	ENSG00000168453.16	transcript	ENST00000381418.9	protein_coding	1/19				1785		chr8	TogoVar
HS3ST2_chr16_22809162_22921338	22818819	T T	TTCCTTCC others(41): Show TTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCATTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp2 HG03471.hp2 others(1): Show HG02723.hp2 HG02965.hp2 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0300 others(1): Show a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0004t0002g0290	4	215	0.0186	48	c.485 others(65): Show c.485+3739_485+3740insTTCCTTCATTCCTTCCTTCCTTCATTCC TTCCCTCCTTCCTTCCTTCC		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST3_chr13_96085107_96844562	96304679	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	88	0.0114	48	c.707 others(69): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HTR2C_chrX_114579086_114915061	114807312	T T	TATATATA others(41): Show TATATATACCATTTATATACACCATAAATATACCATATATATATACACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02055.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0011 a0002c0002t0005 a0002c0002t0011	a0002c0002t0005g0054 a0002c0002t0011g0002 a0002c0002t0005g0054 a0002c0002t0011g0002	2	166	0.0120	48	c.350 others(67): Show c.350-40687_350-40686insATACCATTTATATACACCATAAATAT ACCATATATATATACACCATAT		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807364	T T	TATATCTA others(41): Show TATATCTATACCATGTATATACGCCATATCTATACCATGTATATACGCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	172	0.0058	48	c.350 others(67): Show c.350-40626_350-40625insGTATATACGCCATATCTATACCATGT ATATACGCCATATCTATACCAT		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807417	C C	CTATACCA others(41): Show CTATACCATATATATACGCCATATATATACCATATATATACGCCATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	159	0.0063	48	c.350 others(67): Show c.350-40581_350-40534dupCCATATATATACGCCATATATATACC ATATATATACGCCATATATATA		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR5A_chr7_155065324_155092392	155073895	A A	ATATATAT others(41): Show ATATATATGTATATATATATATGTATATATATATATGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0050 a0001c0004t0020g0050	2	426	0.0047	48	c.741 others(65): Show c.741+2262_741+2263insGTATATATATATATGTATATATATATAT GTATATATATACGTATATAT		HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
HTT_chr4_3069681_3248957	3169003	A A	ATTCTTTC others(41): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 NA19030.hp2 HG02145.hp2 HG03195.hp1 NA19030.hp2	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0058 a0011c0021 a0012c0006 a0001c0058 a0011c0021 a0012c0006	a0001c0058t0001 a0011c0021t0003 a0012c0006t0003 a0001c0058t0001 a0011c0021t0003 a0012c0006t0003	a0001c0058t0001g0219 a0011c0021t0003g0018 a0012c0006t0003g0020 a0001c0058t0001g0219 a0011c0021t0003g0018 a0012c0006t0003g0020	3	250	0.0120	48	c.386 others(67): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HYAL1_chr3_50294893_50308574	50296474	C C	CAGGAAAC others(41): Show CAGGAAACATGCCCAGGTTAAAGCTGCCCCCCAGGGGCTAGGGGCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	48	c.39 others(59): Show c.3961_*4008dupCTCAGCCCCTAGCCCCTGGGGGGCAGCTTTAACC TGGGCATGTTTCCT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					3418		chr3	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0025 a0025	a0025c0070 a0025c0070	a0025c0070t0001 a0025c0070t0001	a0025c0070t0001g0042 a0025c0070t0001g0042	1	92	0.0109	48	c.884 others(65): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
IBA57_chr1_228160804_228187257	228174111	G G	GGCTGTGG others(41): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0032 a0004c0005t0110 a0004c0005t0032 a0004c0005t0110	a0004c0005t0032g0047 a0004c0005t0110g0047 a0004c0005t0032g0047 a0004c0005t0110g0047	2	389	0.0051	48	c.342 others(63): Show c.342-228_342-181dupGCTGTGGGCGTGGCTCGCTGTGGGCGTGGC TCGCTGTGGGCGTGGCTC		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(41): Show AATAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02155.hp1 NA18947.hp2 others(2): Show HG01943.hp1 HG02155.hp1 NA18947.hp2 NA18973.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0088 others(2): Show a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0095	5	9	0.5556	48	c.372 others(65): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATATTTAT		IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28						chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0270 a0001c0001t0006g0270	1	185	0.0054	48	c.-7- others(65): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATATATATATA		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12						chr2	TogoVar
ICMT_chr1_6216193_6240964	6235951	T T	TAGCCCGG others(41): Show TAGCCCGGAGAAACGCGCCGGCTGTAGCCCGGAGAAACGCGCCGGCTGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0190 a0001c0001t0049g0190	1	321	0.0031	48	c.-41 others(55): Show c.-41_-40insGCAGCCGGCGCGTTTCTCCGGGCTACAGCCGGCGCGTT TCTCCGGGCT		ICMT	ENSG00000116237.16	transcript	ENST00000343813.10	protein_coding	1/5				41		chr1	TogoVar

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