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
GRM8_chr7_126433598_127257941	126763584	C C	CTAGTTTC others(45): Show CTAGTTTCATACTGGATTGATTATTGTAGTTTATCACATGTCTATTCTGG TAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp1 others(22): Show HG00280.hp2 HG00323.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01257.hp2 HG01433.hp1 HG01993.hp1 HG02486.hp2 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG04228.hp1 HG04228.hp2 NA18992.hp2 NA19068.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0004c0006t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0033 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0007g0107 a0004c0006t0001g0032	25	108	0.2315	52	c.135 others(71): Show c.1357+6229_1357+6280dupATACCAGAATAGACATGTGATAAACT ACAATAATCAATCCAGTATGAAACTA	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	7/10			chr7	TogoVar
GRP_chr18_59215158_59235771	59227004	T T	TCTTTCTT others(45): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20752.hp2 HG02145.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0158 a0003c0005t0001g0114 a0001c0001t0001g0158 a0003c0005t0001g0114	2	408	0.0049	52	c.382 others(69): Show c.382+1283_382+1334dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCCTTTCTTTCTTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227012	T T	TCTTTCTT others(45): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	408	0.0025	52	c.382 others(69): Show c.382+1321_382+1322insTCTTTCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRTP1_chr13_113319163_113369130	113332381	C C	CGTGCACA others(45): Show CGTGCACACGCACCGCCACACAGGTACACACGTGCACACGCACAGCCACA CGT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	288	0.0035	52	c.563 others(69): Show c.563-6291_563-6290insACGTGTGGCTGTGCGTGTGCACGTGTGT ACCTGTGTGGCGGTGCGTGTGCAC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113352362	A A	ATATATAT others(45): Show ATATATATATATATTTATATATATTTTATATATATATATATTTATATATA TTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00733.hp1 others(47): Show HG00558.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02602.hp2 HG03239.hp1 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18970.hp1 NA18977.hp2 NA18984.hp2 NA18992.hp1 NA18995.hp1 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19070.hp2 NA19085.hp2 NA20905.hp2	a0001 a0004 a0013 others(2): Show a0001 a0004 a0013 a0015 a0019	a0001c0001 a0004c0005 a0013c0014 others(2): Show a0001c0001 a0004c0005 a0013c0014 a0015c0011 a0019c0009	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0013c0014t0001 a0015c0011t0001 a0019c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0104 others(46): Show a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0002g0191 a0004c0005t0001g0190 a0013c0014t0001g0243 a0015c0011t0001g0008 a0019c0009t0001g0006	50	288	0.1736	52	c.341 others(69): Show c.341-1390_341-1389insAAATATATATAAATATATATATATATAA AATATATATAAATATATATATATA	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	3/7			chr13	TogoVar
GSG1L2_chr17_9795608_9827079	9816870	C C	CTGTGTGT others(45): Show CTGTGTGTGTATCTGTGTGTGTGTATCTGTGTGTGTGTCTCTGTGTGTAT CTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp1 HG02257.hp2 NA18522.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0013 a0001c0003 a0009c0013	a0001c0003t0002 a0009c0013t0018 a0001c0003t0002 a0009c0013t0018	a0001c0003t0002g0131 a0009c0013t0018g0132 a0001c0003t0002g0131 a0009c0013t0018g0132	2	474	0.0042	52	c.310 others(69): Show c.310+4891_310+4892insCAGATACACACAGAGACACACACACAGA TACACACACACAGATACACACACA	GSG1L2	ENSG00000214978.8	transcript	ENST00000399363.5	protein_coding	1/4			chr17	TogoVar
GSG1L_chr16_27782528_28068714	27979642	G G	GGAAAGAA others(45): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 HG03130.hp1 others(1): Show HG00558.hp1 HG02145.hp2 HG03130.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0003g0202 a0001c0002t0001g0013 others(1): Show a0001c0001t0001g0007 a0001c0001t0003g0202 a0001c0002t0001g0013 a0001c0002t0001g0104	4	240	0.0167	52	c.350 others(71): Show c.350-16440_350-16439insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979661	A A	AAGAAAGA others(45): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0060 a0001c0002t0021g0060	1	240	0.0042	52	c.350 others(71): Show c.350-16459_350-16458insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979697	A A	AAGAAAGA others(45): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	240	0.0042	52	c.350 others(71): Show c.350-16495_350-16494insCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GTDC1_chr2_143933068_144337512	144084819	A A	ACTTTCAG others(45): Show ACTTTCAGGTCAATTTTTCTTTTCACTAAGCCATTGGAAGCAAAACTTTA GTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0034 a0001c0001t0028g0034	1	124	0.0081	52	c.521 others(71): Show c.521+57062_521+57063insCACTAAAGTTTTGCTTCCAATGGCTT AGTGAAAAGAAAAATTGACCTGAAAG	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTF2F2_chr13_45115510_45289893	45212520	C C	CTCTTTCT others(45): Show CTCTTTCTCTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCCCTCTTTCTCT TTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01175.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03209.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(23): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209	26	210	0.1238	52	c.386 others(69): Show c.386+5030_386+5031insTTCTCTCTCTCTCTCTCTCTTTCCCTCT TTCTCTTTTTCTTTCTCTCTTTCT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169686	A A	ATATATAT others(45): Show ATATATATTATATAATATATTGTATATTATATATTATATAATATATTGTA TAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03831.hp1 others(3): Show HG01257.hp1 HG01258.hp2 HG03831.hp1 NA18970.hp1 NA19012.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0033 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0033 a0001c0001t0087	a0001c0001t0002g0038 a0001c0001t0002g0250 a0001c0001t0002g0270 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0250 a0001c0001t0002g0270 a0001c0001t0010g0038 a0001c0001t0033g0041 a0001c0001t0087g0041	6	384	0.0156	52	c.-34 others(67): Show c.-34-750_-34-699dupTATATAATATATTGTATATTATATATTATA TAATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GUCA2A_chr1_42157690_42169745	42166943	G G	GTGTGTGT others(45): Show GTGTGTGTATACACTGAGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCTG ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	436	0.0023	52	c.-22 others(63): Show c.-2232_-2231insTGTCAGCACACACACACCTCAGCACACACACGCA CCTCAGTGTATACACACA	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		2199		chr1	TogoVar
GXYLT1_chr12_42076845_42149874	42098762	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0203	1	398	0.0025	52	c.865 others(67): Show c.865-730_865-729insGTATATATATATATATATATATATATATAT ATATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYG2_chrX_2823930_2887818	2844532	A A	ATATATGT others(45): Show ATATATGTGTATACGCACACGCATGCGTATATGTGTATACGCACACGCAT GCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0126 a0002c0002t0005g0126	1	316	0.0032	52	c.149 others(69): Show c.149+1355_149+1406dupCATGCGTATATGTGTATACGCACACGCA TGCGTATATGTGTATACGCACACG	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844755	C C	CACACGCA others(45): Show CACACGCATGCGTATATGTGTATACGCACACGCATGCGTATATGTGTATA CGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00741.hp1 others(15): Show HG00323.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01175.hp1 HG01934.hp1 HG01978.hp2 HG02071.hp1 HG02735.hp1 NA18747.hp1 NA18952.hp1 NA18956.hp1 NA18981.hp2 NA18984.hp1 NA18992.hp1 NA19001.hp2 NA19030.hp2 NA19076.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 a0001c0001 a0002c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0007 a0004c0009t0002	a0001c0001t0001g0052 a0001c0001t0001g0181 a0001c0001t0001g0196 others(15): Show a0001c0001t0001g0052 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0054 a0001c0001t0003g0055 a0001c0001t0003g0065 a0001c0001t0003g0180 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0273 a0001c0001t0004g0309 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0007g0188 a0004c0009t0002g0212	18	316	0.0570	52	c.149 others(69): Show c.149+1406_149+1407insCATGCGTATATGTGTATACGCACACGCA TGCGTATATGTGTATACGTACACG	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H1-7_chr12_48323980_48335279	48332921	A A	ACCCCCCC others(45): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0000 a0010c0008t0001g0000	1	424	0.0024	52	c.28 others(63): Show c.2862_*2863insCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2643		chr12	TogoVar
H1-7_chr12_48323980_48335279	48332921	A A	ACCCCCCC others(45): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCC GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	424	0.0024	52	c.28 others(63): Show c.2862_*2863insCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGGCCGAC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2643		chr12	TogoVar
HACD1_chr10_17584032_17622374	17591780	A A	ATTTCTTT others(45): Show ATTTCTTTATAAAACTTAGCTCAAACAGAGCAAAAATACACAATAGGTTT TAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006 a0012c0012	a0001c0001t0002 a0001c0002t0002 a0001c0002t0010 others(5): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0010 a0001c0002t0014 a0001c0002t0020 a0003c0004t0002 a0004c0006t0002 a0012c0012t0002	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0020 others(122): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0002t0002g0013 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0331 a0001c0002t0010g0316 a0001c0002t0010g0318 a0001c0002t0014g0330 a0001c0002t0020g0326 a0003c0004t0002g0340 a0004c0006t0002g0290 a0004c0006t0002g0291 a0004c0006t0002g0292 a0012c0012t0002g0304	142	410	0.3463	52	c.785 others(69): Show c.785-1335_785-1334insATAAAACCTATTGTGTATTTTTGCTCTG TTTGAGCTAAGTTTTATAAAGAAA	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	6/6			chr10	TogoVar
HADH_chr4_107984889_108040171	108022201	A A	ATGTGTGT others(45): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTATGT GTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	304	0.0033	52	c.547 others(69): Show c.547-1250_547-1249insGTGTGTGTGTATGTGTGTGTGTATGTGT GTGTGTGTGTGTGTGTGTGTGTGT	HADH	ENSG00000138796.18	transcript	ENST00000309522.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATGTGTATATATA TAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18954.hp2 NA18967.hp1 HG01934.hp2 NA18954.hp2 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0222 a0001c0002t0003g0055 a0001c0002t0001g0222 a0001c0002t0003g0055	3	428	0.0070	52	c.771 others(69): Show c.771+2337_771+2338insTATATATGTGTATATATATATATATATA TATATATATATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATGTGTATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02165.hp1 NA18972.hp2 HG00673.hp2 HG02165.hp1 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0233 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0233	3	428	0.0070	52	c.771 others(69): Show c.771+2337_771+2338insTATATGTGTATATATATATATATATATA TATATATATATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389148	A A	ATGTGTAT others(45): Show ATGTGTATATATATATATATACATATATATATATATGTATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp2 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0284 a0001c0004t0006g0285	2	428	0.0047	52	c.771 others(69): Show c.771+2318_771+2319insGTGTATATATATATATATACATATATAT ATATATGTATATATATATATATGT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAPLN3_chr15_88872294_88900544	88897514	T T	TGGCCCCA others(45): Show TGGCCCCACCTCCTGCTGCTCAGAGGCGGCCCCACCTCCTGCTGCTCAGA GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00733.hp1 others(11): Show HG00099.hp2 HG00642.hp2 HG00733.hp1 HG01071.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03704.hp2 HG04184.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0233 a0001c0002t0001g0010 a0001c0002t0001g0172 others(5): Show a0001c0001t0001g0233 a0001c0002t0001g0010 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0006t0001g0029 a0001c0006t0001g0046	14	436	0.0321	52	c.-21 others(63): Show c.-2104_-2103insGCCTCTGAGCAGCAGGAGGTGGGGCCGCCTCTGA GCAGCAGGAGGTGGGGCC	HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding		1971		chr15	TogoVar
HBM_chr16_160978_171764	164711	G G	GGCGGGGC others(45): Show GGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGTGCGGGGCGGG GTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18963.hp2 NA18967.hp1 others(2): Show NA18940.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	370	0.0135	52	c.-12 others(63): Show c.-1287_-1286insGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC GCGGTGCGGGGCGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1266		chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGGTCGCG others(45): Show GGGTCGCGGGGAGGGGCGGGGCGGGGCGGGGGTCGCGGGGCGGGGCGGGG GTC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	432	0.0023	52	c.300 others(65): Show c.300+82_300+83insGTCGCGGGGAGGGGCGGGGCGGGGCGGGGGTC GCGGGGCGGGGCGGGGGTCG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGGTCGCG others(45): Show GGGTCGCGGGGAGGGGGCGGGGCGGGGCGGGGTCGCGGGGCGGGGCGGGG GTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	432	0.0023	52	c.300 others(65): Show c.300+82_300+83insGTCGCGGGGAGGGGGCGGGGCGGGGCGGGGTC GCGGGGCGGGGCGGGGGTCG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCFC2_chr12_104059531_104111524	104087470	T T	TATATATA others(45): Show TATATATATATGTATATATATATACATATATATATATATGTATATATATA TAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0164 a0001c0001t0022g0164	1	382	0.0026	52	c.123 others(69): Show c.1231+466_1231+467insGTATATATATATACATATATATATATAT GTATATATATATACATATATATAT	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HCK_chr20_32047242_32106856	32094799	A A	AAGAAAGA others(45): Show AAGAAAGAAAGAAAGAGAGAAAGAAAGAAGGAAAGAAAGAAAGAGAGAGA AAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	290	0.0035	52	c.124 others(69): Show c.1246+798_1246+799insGAGAAAGAAAGAAGGAAAGAAAGAAAGA GAGAGAAAGAGAAAGAAAGAAAGA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(45): Show AGAATATATAGAATATATATTCTATATAGAATATATATTCTATATAATAT ATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	226	0.0044	52	c.123 others(73): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN2_chr19_584881_622159	605332	T T	TGGGGACC others(45): Show TGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTTCAGA GGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03654.hp1 HG01123.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0169 a0001c0008t0002g0128 a0001c0001t0002g0169 a0001c0008t0002g0128	2	408	0.0049	52	c.121 others(69): Show c.1218+154_1218+155insTCAGAGGCGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTCGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605368	C C	CGGGCCCT others(45): Show CGGGCCCTTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGA CTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG02148.hp2 HG00639.hp2 HG01261.hp2 HG02148.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0024 a0003c0065 a0010c0133 a0001c0024 a0003c0065 a0010c0133	a0001c0024t0001 a0003c0065t0001 a0010c0133t0001 a0001c0024t0001 a0003c0065t0001 a0010c0133t0001	a0001c0024t0001g0036 a0003c0065t0001g0034 a0010c0133t0001g0033 a0001c0024t0001g0036 a0003c0065t0001g0034 a0010c0133t0001g0033	3	408	0.0074	52	c.121 others(69): Show c.1218+154_1218+155insTCAGAGGCGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTTGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605429	T T	TCAGAGGT others(45): Show TCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0247 a0001c0022t0004g0247	1	408	0.0025	52	c.121 others(69): Show c.1218+213_1218+214insTGGGGACCCAGGCGCCCCCTTATGGAGG GGAGGACTCGGGCCCTTACAGAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605585	T T	TCAGAGGT others(45): Show TCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp2 HG02280.hp2 HG01167.hp2 HG02145.hp2 HG02280.hp2	a0002 a0002	a0002c0010 a0002c0039 a0002c0089 a0002c0010 a0002c0039 a0002c0089	a0002c0010t0001 a0002c0039t0005 a0002c0089t0004 a0002c0010t0001 a0002c0039t0005 a0002c0089t0004	a0002c0010t0001g0359 a0002c0039t0005g0338 a0002c0089t0004g0358 a0002c0010t0001g0359 a0002c0039t0005g0338 a0002c0089t0004g0358	3	408	0.0074	52	c.121 others(69): Show c.1218+503_1218+554dupGAGGACTCGGGCCCTTACAGAGGTGGGG ACCCAGGCGCCCCCTTATGGAGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605637	A A	ACAGAGGT others(45): Show ACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0112 a0001c0112	a0001c0112t0003 a0001c0112t0003	a0001c0112t0003g0159 a0001c0112t0003g0159	1	408	0.0025	52	c.121 others(69): Show c.1218+466_1218+467insTCAGAGGTGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTCGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605644	T T	TGGGGACC others(45): Show TGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACACGGGCCCTTACAGA GGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG00639.hp2 HG01261.hp2	a0003 a0010 a0003 a0010	a0003c0065 a0010c0133 a0003c0065 a0010c0133	a0003c0065t0001 a0010c0133t0001 a0003c0065t0001 a0010c0133t0001	a0003c0065t0001g0034 a0010c0133t0001g0033 a0003c0065t0001g0034 a0010c0133t0001g0033	2	408	0.0049	52	c.121 others(69): Show c.1218+456_1218+457insACGGGCCCTTACAGAGGCGGGGACCCAG GCGCCCCCTTATGGAGGGGAGGAC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605648	G G	GACCCAGG others(45): Show GACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGAGGCG GGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0036 a0001c0024t0001g0036	1	408	0.0025	52	c.121 others(69): Show c.1218+473_1218+474insCGGGCACCCAGGCGCCCCCTTATGGAGG GGAGGACTCGGGCCCTTACAGAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239232736	C C	CCCTCACC others(45): Show CCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGGTGGCC CTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0164 a0001c0002t0024g0164	1	242	0.0041	52	c.94+ others(67): Show c.94+3856_94+3857insAAGGGCCACCCTTGGCTTGGTGAGGGGAAG GGCCACCCTTGGCTTGGTGAGG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239232814	T T	TCCCTCAC others(45): Show TCCCTCACCAAGCCAAGGTGGCCCTTCCCTCTCCAAGCCAAGGGCGGCCC TTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG03139.hp2 others(2): Show HG02717.hp2 HG02896.hp1 HG03139.hp2 HG06807.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0006 a0001c0003t0002 a0001c0003t0007 others(2): Show a0001c0001t0006 a0001c0003t0002 a0001c0003t0007 a0001c0005t0001 a0001c0007t0003	a0001c0001t0006g0227 a0001c0003t0002g0144 a0001c0003t0007g0124 others(2): Show a0001c0001t0006g0227 a0001c0003t0002g0144 a0001c0003t0007g0124 a0001c0005t0001g0128 a0001c0007t0003g0033	5	242	0.0207	52	c.94+ others(67): Show c.94+3778_94+3779insGAAGGGCCGCCCTTGGCTTGGAGAGGGAAG GGCCACCTTGGCTTGGTGAGGG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18786486	C C	CTTCCTTC others(45): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG01884.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0009 a0001c0001t0006 a0001c0006t0009	a0001c0001t0006g0039 a0001c0006t0009g0042 a0001c0001t0006g0039 a0001c0006t0009g0042	2	156	0.0128	52	c.221 others(71): Show c.2215-6838_2215-6837insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCATTCCTTCCTTCCTTCCTTCCT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786486	C C	CTTTCTTC others(45): Show CTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0153 a0001c0001t0010g0153	1	156	0.0064	52	c.221 others(71): Show c.2215-6857_2215-6856insTCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCATT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL3_chr15_83122753_83212823	83176939	C C	CCTTCTCA others(45): Show CCTTCTCACAAAAACTACTAGCTTAGAATGTGTTTTTTTTTGTTTTTTGG AGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01109.hp2 others(45): Show HG00642.hp2 HG00733.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(15): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056	a0001c0001t0004g0002 a0001c0001t0004g0086 a0001c0001t0004g0087 others(43): Show a0001c0001t0004g0002 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0217 a0001c0001t0004g0221 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0216 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0013g0028 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0014g0003 a0001c0001t0014g0107 a0001c0001t0018g0096 a0001c0001t0018g0097 a0001c0001t0021g0013 a0001c0001t0023g0019 a0001c0001t0028g0029 a0001c0001t0029g0033 a0001c0001t0030g0030 a0001c0001t0033g0106 a0001c0001t0035g0091 a0001c0001t0051g0119 a0001c0001t0053g0120 a0001c0001t0055g0098 a0001c0001t0056g0212	48	246	0.1951	52	c.85- others(69): Show c.85-12865_85-12864insTCTCCAAAAAACAAAAAAAAACACATTC TAAGCTAGTAGTTTTTGTGAGAAG	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19080.hp2 HG02083.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0168 a0002c0003t0002g0169	2	314	0.0064	52	c.591 others(71): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0174 a0002c0003t0002g0174	1	314	0.0032	52	c.591 others(71): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(45): Show GAGATGGATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04199.hp1 NA18982.hp1 others(1): Show HG01978.hp1 HG04199.hp1 NA18982.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0120 a0001c0002t0001g0247 a0001c0002t0001g0273 others(1): Show a0001c0002t0001g0120 a0001c0002t0001g0247 a0001c0002t0001g0273 a0001c0005t0001g0031	4	314	0.0127	52	c.321 others(69): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18959.hp2 HG02071.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0096 a0002c0003t0002g0049 a0001c0004t0001g0096 a0002c0003t0002g0049	2	314	0.0064	52	c.321 others(69): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(45): Show CACACACACACACACACACACACACACACATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0144 a0008c0026t0144	a0008c0026t0144g0327 a0008c0026t0144g0327	1	362	0.0028	52	c.373 others(71): Show c.3733+2834_3733+2835insATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(45): Show CACACACACACACACACACACACATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02735.hp1 HG06807.hp1 HG01168.hp2 HG02735.hp1 HG06807.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0029 a0001c0002 a0012c0029	a0001c0002t0005 a0001c0002t0024 a0012c0029t0048 a0001c0002t0005 a0001c0002t0024 a0012c0029t0048	a0001c0002t0005g0293 a0001c0002t0024g0139 a0012c0029t0048g0037 a0001c0002t0005g0293 a0001c0002t0024g0139 a0012c0029t0048g0037	3	362	0.0083	52	c.373 others(71): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(45): Show CACACACACACACACACACACATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG04184.hp1 HG01928.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0143 a0001c0002t0001g0130 a0001c0002t0001g0143	2	362	0.0055	52	c.373 others(71): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0002 a0023c0042t0002	a0023c0042t0002g0188 a0023c0042t0002g0188	1	390	0.0026	52	c.267 others(71): Show c.2670+1939_2670+1940insTATATATATATATATATATATATATA TATATATATATATATATATATATATA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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