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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GTSE1_chr22_46291870_46335810	46296723	C C	CTGTGCTG others(41): Show CTGTGCTGTGGCACAGGCGGATGGCGCTGGTGGAATTCCACAGGTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0141 a0006c0006t0001g0142 a0006c0006t0001g0141 a0006c0006t0001g0142	2	198	0.0101	48	c.-23 others(57): Show c.-230_-229insTGTGCTGTGGCACAGGCGGATGGCGCTGGTGGAATT CCACAGGTGGAA	GTSE1	ENSG00000075218.19	transcript	ENST00000454366.2	protein_coding		146		chr22	TogoVar
GUCA1B_chr6_42178284_42199956	42188902	A A	ATCTATCT others(41): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0111	1	337	0.0030	48	c.208 others(63): Show c.208-172_208-171insGATATAGATAGATAGATAGATAGATAGATA GATAGATAGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GULP1_chr2_188286874_188600926	188299145	C C	CAAGGATG others(41): Show CAAGGATGACTAAGGACAGAGCAGGTGACTAAGGAGGGAGCAGGTGACT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01169.hp1 others(10): Show HG00738.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG02080.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG04228.hp2 NA18959.hp2 NA18973.hp1 NA18979.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(10): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0004g0107 a0001c0001t0004g0111	13	123	0.1057	48	c.-17 others(67): Show c.-172+7055_-172+7102dupCTAAGGAGGGAGCAGGTGACTAAGGA TGACTAAGGACAGAGCAGGTGA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYG2_chrX_2823930_2887818	2844532	A A	ATATGTGT others(41): Show ATATGTGTATACGCACACGCATGCGTATGTGTATACGCACACGCATGCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0040 a0002c0002t0003g0040	1	295	0.0034	48	c.149 others(65): Show c.149+1181_149+1182insGTGTATACGCACACGCATGCGTATGTGT ATACGCACACGCATGCGTAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845551	A A	ATATATAC others(41): Show ATATATACACATGTGTGTATGTATATATACACGTGTATATACACATGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	173	0.0058	48	c.149 others(65): Show c.149+2198_149+2199insATATACACATGTGTGTATGTATATATAC ACGTGTATATACACATGTGT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845553	T T	TTATATAC others(41): Show TTATATACACATGTGTGTATGTATATTTATATACACATGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01934.hp1 others(12): Show HG00408.hp2 HG00423.hp2 HG01934.hp1 HG01952.hp1 HG02004.hp1 HG02273.hp2 HG02293.hp2 HG03471.hp1 HG03927.hp2 NA18950.hp1 NA18953.hp1 NA18981.hp1 NA19003.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015	a0001c0001t0001g0183 a0001c0001t0001g0220 a0001c0001t0002g0204 others(11): Show a0001c0001t0001g0183 a0001c0001t0001g0220 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0242 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0004g0015 a0001c0001t0004g0071 a0002c0002t0001g0009 a0002c0002t0001g0260 a0002c0002t0002g0261 a0002c0002t0002g0265 a0002c0002t0015g0275	15	135	0.1111	48	c.149 others(65): Show c.149+2208_149+2209insATGTGTGTATGTATATTTATATACACAT GTGTGTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H1-7_chr12_48323980_48335279	48332468	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02451.hp1 others(7): Show HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp2 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	10	350	0.0286	48	c.24 others(59): Show c.2409_*2410insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGA	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2190		chr12	TogoVar
H1-7_chr12_48323980_48335279	48333098	C C	CGCCCCCA others(41): Show CGCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	421	0.0024	48	c.30 others(59): Show c.3039_*3040insGCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGA	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2820		chr12	TogoVar
H1-7_chr12_48323980_48335279	48333186	G G	GGGGGGGC others(41): Show GGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00558.hp1 others(70): Show HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02698.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA19005.hp1 NA19009.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0000 a0005c0005t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000	73	422	0.1730	48	c.31 others(59): Show c.3127_*3128insGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2908		chr12	TogoVar
H1-7_chr12_48323980_48335279	48333221	G G	GCGGCTGG others(41): Show GCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	422	0.0024	48	c.31 others(59): Show c.3162_*3163insCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCGGATGGGA	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2943		chr12	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	177	0.0056	48	c.-46 others(59): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AB1_chrX_154879972_154890558	154881524	A A	AGGTTGCT others(41): Show AGGTTGCTTCAACATGTGAAAATCAGTGTATATAATACACCATATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp1 NA19240.hp1 HG02976.hp2 HG03098.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	3	318	0.0094	48	c.-35 others(59): Show c.-3526_-3525insGGTTGCTTCAACATGTGAAAATCAGTGTATATAA TACACCATATTAAT	H2AB1	ENSG00000274183.2	transcript	ENST00000620016.2	protein_coding		3447		chrX	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 NA18946.hp2 HG01975.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	2	23	0.0870	48	c.-16 others(59): Show c.-1618_-1617insATATATATATATATATATATATATATATATATAT ATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C11_chr6_27819092_27829480	27827342	G G	GGGGGGCT others(41): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	48	c.29 others(59): Show c.2906_*2907insGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGC	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2863		chr6	TogoVar
H4C12_chr6_27826174_27836560	27827342	G G	GGGGGGCT others(41): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	48	c.38 others(59): Show c.3873_*3874insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCC	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		3831		chr6	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	109	0.0092	48	c.771 others(65): Show c.771+2337_771+2338insTATATGTGTATATATATATATATATATA TATATATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389156	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATACACGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	423	0.0024	48	c.771 others(65): Show c.771+2337_771+2338insTATATATATATATATACACGTATATATA TATGTGTGTATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAUS5_chr19_35607735_35630355	35612181	A A	AGGGTCAT others(41): Show AGGGTCATGCTCTCTGCCACCTACCCTCCACTCAGACATGAGACACCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	428	0.0023	48	c.-61 others(57): Show c.-614_-613insGGGTCATGCTCTCTGCCACCTACCCTCCACTCAGAC ATGAGACACCTG	HAUS5	ENSG00000249115.9	transcript	ENST00000203166.10	protein_coding		553		chr19	TogoVar
HBM_chr16_160978_171764	164731	C C	CGGGGTCG others(41): Show CGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	48	c.-12 others(59): Show c.-1267_-1266insGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTCGC GGGGCGGGGTCGCG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1246		chr16	TogoVar
HBZ_chr16_147644_159503	154189	C C	CGGGGCGG others(41): Show CGGGGCGGGGCGGGGTCGCGGGGCGGGGCGGGGGTCGCGGGGCGGGGCG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02698.hp1 NA18963.hp2 others(1): Show HG02148.hp1 HG02698.hp1 NA18963.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	4	424	0.0094	48	c.301 others(61): Show c.301-79_301-78insCGGGGCGGGGTCGCGGGGCGGGGCGGGGGTCG CGGGGCGGGGCGGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCN1_chr5_45249948_45701380	45372116	T T	TATATATT others(41): Show TATATATTATATATATAATATAATTATATATTATATATATAATATAATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0172 a0001c0001t0028g0172	1	224	0.0045	48	c.123 others(69): Show c.1231-18871_1231-18870insTATTATATTATATATATAATATAT AATTATATTATATATATAATATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN2_chr19_584881_622159	585300	T T	TGGGGTGC others(41): Show TGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCAGCGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(54): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01361.hp2 HG01975.hp1 HG02027.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18970.hp1 NA18979.hp2 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19089.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0013 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0014 a0001c0015 a0001c0018 a0001c0033 a0001c0039 a0001c0040 a0001c0044 a0001c0046 a0001c0083 a0001c0085 a0001c0100 a0001c0114 a0002c0004 a0002c0005 a0002c0070 a0002c0072 a0005c0043 a0005c0110 a0013c0090 a0015c0122 a0016c0087	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0003t0011 a0001c0003t0018 a0001c0007t0001 a0001c0007t0007 a0001c0013t0001 a0001c0013t0002 a0001c0014t0003 a0001c0015t0004 a0001c0018t0001 a0001c0033t0001 a0001c0039t0001 a0001c0040t0003 a0001c0044t0001 a0001c0046t0001 a0001c0083t0009 a0001c0085t0001 a0001c0100t0003 a0001c0114t0004 a0002c0004t0001 a0002c0005t0028 a0002c0070t0001 a0002c0072t0001 a0005c0043t0006 a0005c0110t0006 a0013c0090t0001 a0015c0122t0004 a0016c0087t0005	a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0001g0189 others(54): Show a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0002g0186 a0001c0001t0004g0172 a0001c0001t0024g0217 a0001c0002t0003g0093 a0001c0002t0003g0098 a0001c0002t0003g0173 a0001c0002t0004g0175 a0001c0002t0004g0182 a0001c0003t0001g0170 a0001c0003t0001g0181 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0180 a0001c0003t0002g0193 a0001c0003t0002g0205 a0001c0003t0002g0219 a0001c0003t0002g0223 a0001c0003t0007g0067 a0001c0003t0010g0210 a0001c0003t0011g0198 a0001c0003t0018g0384 a0001c0007t0001g0190 a0001c0007t0001g0191 a0001c0007t0001g0195 a0001c0007t0001g0196 a0001c0007t0007g0222 a0001c0013t0001g0131 a0001c0013t0001g0200 a0001c0013t0002g0199 a0001c0014t0003g0095 a0001c0014t0003g0096 a0001c0015t0004g0021 a0001c0018t0001g0039 a0001c0018t0001g0051 a0001c0033t0001g0233 a0001c0039t0001g0194 a0001c0040t0003g0192 a0001c0040t0003g0197 a0001c0044t0001g0209 a0001c0046t0001g0050 a0001c0083t0009g0097 a0001c0085t0001g0221 a0001c0100t0003g0171 a0001c0114t0004g0040 a0002c0004t0001g0319 a0002c0005t0028g0355 a0002c0070t0001g0297 a0002c0072t0001g0243 a0005c0043t0006g0108 a0005c0043t0006g0109 a0005c0110t0006g0048 a0013c0090t0001g0118 a0015c0122t0004g0102 a0016c0087t0005g0220	57	237	0.2405	48	c.-46 others(59): Show c.-4646_-4645insGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGG GTGCCCAGCGCGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4580		chr19	TogoVar
HCN2_chr19_584881_622159	585300	T T	TGGGGTGC others(41): Show TGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(149): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG01069.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0010 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(49): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0031 a0001c0032 a0001c0034 a0001c0039 a0001c0041 a0001c0042 a0001c0044 a0001c0046 a0001c0076 a0001c0079 a0001c0082 a0001c0088 a0001c0093 a0001c0097 a0001c0101 a0001c0104 a0001c0105 a0001c0107 a0001c0112 a0001c0113 a0001c0115 a0001c0117 a0002c0004 a0002c0010 a0002c0012 a0002c0021 a0002c0051 a0003c0120 a0004c0029 a0004c0089 a0008c0095 a0010c0056 a0014c0080 a0018c0081	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0030 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0007t0002 a0001c0007t0013 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0007 a0001c0009t0001 a0001c0009t0011 a0001c0013t0001 a0001c0014t0003 a0001c0015t0001 a0001c0015t0002 a0001c0017t0001 a0001c0017t0004 a0001c0018t0002 a0001c0018t0023 a0001c0018t0025 a0001c0020t0003 a0001c0020t0008 a0001c0022t0001 a0001c0023t0001 a0001c0024t0003 a0001c0025t0001 a0001c0025t0004 a0001c0025t0005 a0001c0026t0002 a0001c0031t0001 a0001c0032t0004 a0001c0034t0005 a0001c0039t0001 a0001c0041t0001 a0001c0042t0004 a0001c0044t0001 a0001c0046t0002 a0001c0076t0001 a0001c0079t0004 a0001c0082t0004 a0001c0088t0002 a0001c0093t0003 a0001c0097t0001 a0001c0101t0008 a0001c0104t0001 a0001c0105t0001 a0001c0107t0001 a0001c0112t0016 a0001c0113t0006 a0001c0115t0004 a0001c0117t0017 a0002c0004t0004 a0002c0010t0001 a0002c0012t0001 a0002c0012t0002 a0002c0021t0001 a0002c0051t0012 a0003c0120t0002 a0004c0029t0002 a0004c0029t0004 a0004c0089t0003 a0008c0095t0001 a0010c0056t0001 a0014c0080t0004 a0018c0081t0002	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 others(148): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0166 a0001c0001t0004g0017 a0001c0001t0004g0169 a0001c0001t0004g0387 a0001c0001t0009g0138 a0001c0001t0030g0390 a0001c0002t0003g0009 a0001c0002t0003g0074 a0001c0002t0003g0078 a0001c0002t0003g0094 a0001c0002t0003g0134 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0145 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0003g0164 a0001c0002t0003g0184 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0004g0080 a0001c0002t0004g0092 a0001c0002t0004g0183 a0001c0002t0009g0116 a0001c0002t0021g0144 a0001c0003t0001g0020 a0001c0003t0001g0087 a0001c0003t0001g0090 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0002g0178 a0001c0003t0006g0203 a0001c0006t0001g0070 a0001c0006t0001g0213 a0001c0006t0001g0214 a0001c0006t0002g0018 a0001c0006t0004g0072 a0001c0007t0001g0088 a0001c0007t0001g0089 a0001c0007t0001g0127 a0001c0007t0002g0086 a0001c0007t0013g0212 a0001c0008t0001g0022 a0001c0008t0001g0026 a0001c0008t0002g0083 a0001c0008t0004g0228 a0001c0008t0004g0385 a0001c0008t0007g0004 a0001c0009t0001g0069 a0001c0009t0001g0113 a0001c0009t0001g0133 a0001c0009t0001g0395 a0001c0009t0011g0120 a0001c0013t0001g0132 a0001c0014t0003g0071 a0001c0014t0003g0076 a0001c0014t0003g0179 a0001c0014t0003g0215 a0001c0015t0001g0011 a0001c0015t0002g0079 a0001c0017t0001g0383 a0001c0017t0004g0023 a0001c0018t0002g0056 a0001c0018t0023g0045 a0001c0018t0025g0059 a0001c0020t0003g0115 a0001c0020t0008g0010 a0001c0020t0008g0013 a0001c0022t0001g0075 a0001c0022t0001g0154 a0001c0022t0001g0225 a0001c0023t0001g0122 a0001c0023t0001g0125 a0001c0024t0003g0168 a0001c0024t0003g0177 a0001c0025t0001g0036 a0001c0025t0001g0053 a0001c0025t0004g0046 a0001c0025t0005g0052 a0001c0026t0002g0038 a0001c0026t0002g0044 a0001c0026t0002g0047 a0001c0031t0001g0149 a0001c0031t0001g0174 a0001c0032t0004g0381 a0001c0034t0005g0035 a0001c0039t0001g0155 a0001c0041t0001g0019 a0001c0042t0004g0015 a0001c0044t0001g0124 a0001c0046t0002g0037 a0001c0076t0001g0029 a0001c0079t0004g0028 a0001c0082t0004g0208 a0001c0088t0002g0399 a0001c0093t0003g0158 a0001c0097t0001g0119 a0001c0101t0008g0024 a0001c0104t0001g0176 a0001c0105t0001g0121 a0001c0107t0001g0057 a0001c0112t0016g0049 a0001c0113t0006g0041 a0001c0115t0004g0062 a0001c0117t0017g0063 a0002c0004t0004g0333 a0002c0010t0001g0363 a0002c0012t0001g0317 a0002c0012t0002g0349 a0002c0021t0001g0310 a0002c0051t0012g0360 a0003c0120t0002g0162 a0004c0029t0002g0103 a0004c0029t0002g0105 a0004c0029t0004g0104 a0004c0089t0003g0106 a0008c0095t0001g0211 a0010c0056t0001g0309 a0014c0080t0004g0386 a0018c0081t0002g0398	152	332	0.4578	48	c.-46 others(59): Show c.-4646_-4645insGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGG GTGCCCGGCGCGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4580		chr19	TogoVar
HCN2_chr19_584881_622159	585300	T T	TGGGGTGC others(41): Show TGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02976.hp2 HG03831.hp2 others(1): Show HG02735.hp1 HG02976.hp2 HG03831.hp2 HG04199.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0004 a0017c0069 a0001c0001 a0002c0004 a0017c0069	a0001c0001t0004 a0002c0004t0001 a0017c0069t0001 a0001c0001t0004 a0002c0004t0001 a0017c0069t0001	a0001c0001t0004g0068 a0002c0004t0001g0281 a0002c0004t0001g0341 others(1): Show a0001c0001t0004g0068 a0002c0004t0001g0281 a0002c0004t0001g0341 a0017c0069t0001g0289	4	184	0.0217	48	c.-46 others(59): Show c.-4646_-4645insGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGG GTGCCCGGCGCGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4580		chr19	TogoVar
HCN2_chr19_584881_622159	585322	A A	ACCCCGTC others(41): Show ACCCCGTCGGTGGGTGCCCAGCGCGGAGGGGTGCGGAGGTGGATGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0066 a0001c0007t0001g0066	1	370	0.0027	48	c.-46 others(59): Show c.-4624_-4623insCCCCGTCGGTGGGTGCCCAGCGCGGAGGGGTGCG GAGGTGGATGTCCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4558		chr19	TogoVar
HCN2_chr19_584881_622159	585322	A A	ACCCCGTC others(41): Show ACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTAGATGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0004 a0001c0020t0004	a0001c0020t0004g0397 a0001c0020t0004g0397	1	370	0.0027	48	c.-46 others(59): Show c.-4624_-4623insCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCG GAGGTAGATGTCCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4558		chr19	TogoVar
HCN2_chr19_584881_622159	585322	A A	ACCCCGTC others(41): Show ACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01891.hp2 others(20): Show HG01192.hp1 HG01243.hp2 HG01891.hp2 HG02080.hp2 HG02572.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03669.hp1 NA18906.hp2 NA18980.hp1 NA19030.hp1 NA19074.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0012	a0001c0001 a0001c0003 a0001c0006 others(17): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0014 a0001c0015 a0001c0017 a0001c0023 a0001c0024 a0001c0030 a0001c0032 a0001c0042 a0001c0094 a0001c0099 a0002c0004 a0002c0062 a0002c0073 a0003c0121 a0008c0106 a0012c0061	a0001c0001t0004 a0001c0003t0002 a0001c0006t0002 others(20): Show a0001c0001t0004 a0001c0003t0002 a0001c0006t0002 a0001c0006t0006 a0001c0008t0004 a0001c0008t0014 a0001c0014t0027 a0001c0015t0001 a0001c0017t0001 a0001c0023t0001 a0001c0023t0004 a0001c0024t0002 a0001c0030t0004 a0001c0032t0004 a0001c0042t0008 a0001c0094t0001 a0001c0099t0004 a0002c0004t0002 a0002c0062t0004 a0002c0073t0001 a0003c0121t0004 a0008c0106t0002 a0012c0061t0001	a0001c0001t0004g0229 a0001c0003t0002g0372 a0001c0006t0002g0107 others(20): Show a0001c0001t0004g0229 a0001c0003t0002g0372 a0001c0006t0002g0107 a0001c0006t0006g0249 a0001c0008t0004g0374 a0001c0008t0014g0371 a0001c0014t0027g0248 a0001c0015t0001g0373 a0001c0017t0001g0376 a0001c0023t0001g0370 a0001c0023t0004g0247 a0001c0024t0002g0014 a0001c0030t0004g0378 a0001c0032t0004g0375 a0001c0042t0008g0112 a0001c0094t0001g0369 a0001c0099t0004g0377 a0002c0004t0002g0358 a0002c0062t0004g0362 a0002c0073t0001g0314 a0003c0121t0004g0236 a0008c0106t0002g0188 a0012c0061t0001g0359	23	392	0.0587	48	c.-46 others(59): Show c.-4624_-4623insCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCG GAGGTGGATGTCCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4558		chr19	TogoVar
HCN2_chr19_584881_622159	585394	G G	GGAGGGGT others(41): Show GGAGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0004 a0001c0077t0004	a0001c0077t0004g0382 a0001c0077t0004g0382	1	404	0.0025	48	c.-45 others(59): Show c.-4552_-4551insGAGGGGTGCGGAGGTGGATGTCCACCCCGTCGGT GGGTGCCCGGCGCA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		4486		chr19	TogoVar
HDGFL3_chr15_83122753_83212823	83205747	A A	ACTTGATT others(41): Show ACTTGATTACGTGGTAATTTCCTAAGCTATACAATATTTCAGGACTCAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	244	0.0041	48	c.84+ others(63): Show c.84+1583_84+1584insCTGAGTCCTGAAATATTGTATAGCTTAGGA AATTACCACGTAATCAAG	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0031 a0001c0005t0001g0031	1	153	0.0065	48	c.591 others(67): Show c.5912-2422_5912-2421insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0025 a0001c0005t0001g0025	1	153	0.0065	48	c.591 others(67): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	153	0.0065	48	c.591 others(67): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(41): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	153	0.0065	48	c.591 others(67): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(41): Show GAGATGGATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp1 HG02273.hp1 others(4): Show HG01952.hp1 HG02148.hp1 HG02273.hp1 HG03834.hp2 NA18986.hp1 NA19000.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0026 a0001c0002 a0001c0005 a0001c0026	a0001c0002t0001 a0001c0002t0011 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0011 a0001c0005t0001 a0001c0026t0001	a0001c0002t0001g0014 a0001c0002t0001g0133 a0001c0002t0011g0311 others(4): Show a0001c0002t0001g0014 a0001c0002t0001g0133 a0001c0002t0011g0311 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0024 a0001c0026t0001g0264	7	144	0.0486	48	c.321 others(65): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp2 NA18982.hp2 others(1): Show HG01358.hp1 HG01516.hp2 NA18982.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0194 a0002c0003t0002g0030 a0002c0003t0002g0050 others(1): Show a0001c0001t0001g0194 a0002c0003t0002g0030 a0002c0003t0002g0050 a0002c0003t0002g0167	4	141	0.0284	48	c.321 others(65): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(41): Show CACACACACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp2 HG02738.hp2 HG02083.hp2 HG02523.hp2 HG02738.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0016 a0001c0001 a0001c0002 a0009c0016	a0001c0001t0077 a0001c0002t0001 a0009c0016t0005 a0001c0001t0077 a0001c0002t0001 a0009c0016t0005	a0001c0001t0077g0044 a0001c0002t0001g0144 a0009c0016t0005g0221 a0001c0001t0077g0044 a0001c0002t0001g0144 a0009c0016t0005g0221	3	140	0.0214	48	c.373 others(67): Show c.3733+2834_3733+2835insATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(41): Show CACACACACACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19070.hp2 HG02293.hp2 NA19070.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0033 a0001c0010t0001 a0001c0010t0033	a0001c0010t0001g0023 a0001c0010t0033g0020 a0001c0010t0001g0023 a0001c0010t0033g0020	2	139	0.0144	48	c.373 others(67): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT GTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(41): Show CACACACACACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0208 a0012c0019t0001g0208	1	138	0.0072	48	c.373 others(67): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(41): Show CACACACACACACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0137 a0001c0002t0051g0137	1	138	0.0072	48	c.373 others(67): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0020 a0002c0002t0003g0020	1	40	0.0250	48	c.524 others(67): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTATATATATATAT ATATATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HERC3_chr4_88587480_88713539	88698989	T T	TTTCCTCA others(41): Show TTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(49): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02273.hp1 HG02602.hp2 HG02818.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp2 NA18942.hp2 NA18943.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18982.hp1 NA18986.hp2 NA19011.hp2 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19076.hp2 NA19081.hp1 NA19085.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0004t0001 a0001c0005t0001 a0001c0008t0001 a0001c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0125 others(48): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0004g0045 a0001c0001t0004g0050 a0001c0001t0004g0261 a0001c0001t0006g0163 a0001c0001t0006g0175 a0001c0001t0007g0154 a0001c0001t0007g0222 a0001c0001t0009g0256 a0001c0004t0001g0269 a0001c0005t0001g0081 a0001c0005t0001g0095 a0001c0005t0001g0102 a0001c0005t0001g0106 a0001c0008t0001g0005 a0001c0012t0001g0271	52	237	0.2194	48	c.265 others(67): Show c.2658-4912_2658-4865dupTCACGCTCCTCACCCTCTTCTTCCTC ACCCTCTTCACCCTCTTCTTCC	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC3_chr4_88587480_88713539	88698989	T T	TTTCCTCA others(41): Show TTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTTACCCTCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03130.hp1 HG03225.hp1 HG00140.hp1 HG03130.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0061 a0002c0003t0002g0021 a0002c0003t0002g0047 a0002c0002t0002g0061 a0002c0003t0002g0021 a0002c0003t0002g0047	3	188	0.0160	48	c.265 others(67): Show c.2658-5071_2658-5070insTACCCTCTTCTTCCTCACGCTCCTCA CCCTCTTCTTCCTCACCCTCTT	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC3_chr4_88587480_88713539	88699028	C C	CACCCTCT others(41): Show CACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 NA18906.hp1 HG02818.hp2 HG02976.hp2 NA18906.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0272 a0002c0006t0002g0273 a0002c0006t0002g0275 a0002c0006t0002g0272 a0002c0006t0002g0273 a0002c0006t0002g0275	3	212	0.0142	48	c.265 others(67): Show c.2658-5023_2658-5022insTACCCTCTTCTTCCTCACGCTCCTCA CCCTCTTCTTCCTCACCCTCTT	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC3_chr4_88587480_88713539	88699076	C C	CACCCTCT others(41): Show CACCCTCTTCTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(47): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG01106.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02886.hp2 HG03239.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18945.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19081.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0004t0003 a0001c0004t0010 a0001c0005t0003 a0005c0010t0003	a0001c0001t0001g0070 a0001c0001t0003g0007 a0001c0001t0003g0008 others(45): Show a0001c0001t0001g0070 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0118 a0001c0001t0003g0146 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0284 a0001c0001t0010g0210 a0001c0001t0019g0192 a0001c0004t0003g0258 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0276 a0001c0004t0010g0259 a0001c0005t0003g0063 a0001c0005t0003g0065 a0001c0005t0003g0083 a0001c0005t0003g0096 a0001c0005t0003g0107 a0001c0005t0003g0116 a0001c0005t0003g0120 a0005c0010t0003g0278	50	291	0.1718	48	c.265 others(67): Show c.2658-4975_2658-4974insTACCCTCTTCTTCCTCACGCTCCTCA CCCTCTTCTTCCTCACCCTCTT	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	68059888	C C	CATAATAT others(41): Show CATAATATTATATATTATAATATTATATATCATAATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0290 a0001c0002t0007g0290	1	335	0.0030	48	c.226 others(67): Show c.226+12994_226+12995insTATAATATATAATATTATGATATATA ATATTATAATATATAATATTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HEXD_chr17_82413347_82447645	82443764	G G	GGCCACGG others(41): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02559.hp1 others(9): Show HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 NA19003.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0300 a0002c0002t0001g0149 a0002c0004t0001g0015 others(7): Show a0001c0001t0001g0300 a0002c0002t0001g0149 a0002c0004t0001g0015 a0002c0004t0001g0016 a0002c0004t0001g0039 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0200	12	271	0.0443	48	c.13 others(59): Show c.1380_*1381insGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGG CACACCGGGAATGT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding		1120		chr17	TogoVar
HEXD_chr17_82413347_82447645	82443817	C C	CGGGTCCT others(41): Show CGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0040 a0002c0004t0001g0040	1	398	0.0025	48	c.14 others(59): Show c.1433_*1434insGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACAC CGGGAATGTGCCAT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding		1173		chr17	TogoVar
HEXD_chr17_82413347_82447645	82443830	C C	CGGTGCAC others(41): Show CGGTGCACGGGCTCAGGCACACCGGGAATGTGCCACGGGTCCTGTGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	398	0.0025	48	c.14 others(59): Show c.1446_*1447insGGTGCACGGGCTCAGGCACACCGGGAATGTGCCA CGGGTCCTGTGGGT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding		1186		chr17	TogoVar
HGSNAT_chr8_43135464_43207855	43181082	G G	GGAGGGAG others(41): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0199 a0003c0003t0004g0199	1	199	0.0050	48	c.101 others(65): Show c.1013-957_1013-910dupGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210465849	T T	TATTGCAA others(41): Show TATTGCAAGGAATTGCAAGGAATGAATTGCAAGGAATTGCAAGGAATGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0176 a0001c0001t0015g0176	1	94	0.0106	48	c.100 others(67): Show c.1007+1409_1007+1456dupGAATTGCAAGGAATTGCAAGGAATGA ATTGCAAGGAATTGCAAGGAAT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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