Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
HCN1_chr5_45249948_45701380	45375420	TTATGATA others(26): Show TTATGATACATATTATATATAAGATCATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19240.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0023 a0001c0001t0024	a0001c0001t0023g0075 a0001c0001t0024g0007 a0001c0001t0023g0075 a0001c0001t0024g0007	2	226	0.0089	-33	c.123 others(54): Show c.1230+21039_1230+21071delTAAAATATGATCTTATATATAATA TGTATCATA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN2_chr19_584881_622159	602360	TCTCCTGC others(26): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0004 a0001c0099t0004	a0001c0099t0004g0377 a0001c0099t0004g0377	1	408	0.0025	-33	c.633 others(50): Show c.633-1162_633-1130delCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACT		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602382	CCCTCCTC others(26): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0034 a0001c0020 a0001c0034	a0001c0020t0004 a0001c0034t0004 a0001c0020t0004 a0001c0034t0004	a0001c0020t0004g0030 a0001c0034t0004g0044 a0001c0020t0004g0030 a0001c0034t0004g0044	2	408	0.0049	-33	c.633 others(50): Show c.633-1124_633-1092delCTCTCTCCTCCTGCGTGGACGCCCCACT TCCTC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HDC_chr15_50236947_50270726	50245357	AATGTTTA others(26): Show AATGTTTACCAATCCCTATTGTAGGTGATAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18982.hp2 NA19002.hp2 NA18957.hp2 NA18982.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	3	418	0.0072	-33	c.114 others(52): Show c.1141-2146_1141-2114delCTCCTATCACCTACAATAGGGATTGG TAAACAT		HDC	ENSG00000140287.11	transcript	ENST00000267845.8	protein_coding	10/11						chr15	TogoVar
HEPACAM_chr11_124914205_124941047	124924648	CAGTCTAG others(26): Show CAGTCTAGCTGGTGCGCTGGGCAGACCTTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03927.hp2 HG01123.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0003 a0002c0003t0006	a0002c0003t0003g0121 a0002c0003t0006g0114 a0002c0003t0003g0121 a0002c0003t0006g0114	2	420	0.0048	-33	c.427 others(46): Show c.427+47_427+79delAGGGAAAGGTCTGCCCAGCGCACCAGCTAGAC T		HEPACAM	ENSG00000165478.8	transcript	ENST00000298251.5	protein_coding	2/6						chr11	TogoVar
HEPN1_chr11_124914250_124925677	124924648	CAGTCTAG others(26): Show CAGTCTAGCTGGTGCGCTGGGCAGACCTTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03927.hp2 HG01123.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	428	0.0047	-33	c.46 others(44): Show c.4632_*4664delAGTCTAGCTGGTGCGCTGGGCAGACCTTTCCCT		HEPN1	ENSG00000221932.7	transcript	ENST00000408930.7	protein_coding					3972		chr11	TogoVar
HERC2_chr15_28106040_28327179	28316240	AAAAAAAA others(26): Show AAAAAAAAGGAATTGTCATCAAAGTCCTACGGCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0008 a0001c0063t0001g0008	1	250	0.0040	-33	c.72+ others(48): Show c.72+5089_72+5121delAGCCGTAGGACTTTGATGACAATTCCTTTT TTT		HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92						chr15	TogoVar
HERC3_chr4_88587480_88713539	88698891	CCACCCTC others(26): Show CCACCCTCCTTACCCTCTTCTTCCCCACCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02486.hp1 others(3): Show HG01243.hp2 HG02109.hp2 HG02486.hp1 HG02647.hp2 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009	a0001c0001t0004 a0001c0004t0004 a0001c0004t0017 others(2): Show a0001c0001t0004 a0001c0004t0004 a0001c0004t0017 a0001c0008t0004 a0001c0009t0004	a0001c0001t0004g0025 a0001c0004t0004g0189 a0001c0004t0017g0187 others(3): Show a0001c0001t0004g0025 a0001c0004t0004g0189 a0001c0004t0017g0187 a0001c0008t0004g0010 a0001c0009t0004g0131 a0001c0009t0004g0132	6	296	0.0203	-33	c.265 others(52): Show c.2658-5197_2658-5165delTACCCTCTTCTTCCCCACCTTCCTCA CCCTCCT		HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC3_chr4_88587480_88713539	88699285	TTCCCCAC others(26): Show TTCCCCACCCACCCACCCAGCCCCACCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp2 NA18612.hp2 HG02083.hp2 HG02523.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0222 a0001c0001t0001g0252 a0001c0001t0001g0140 a0001c0001t0001g0222 a0001c0001t0001g0252	3	296	0.0101	-33	c.265 others(52): Show c.2658-4797_2658-4765delCCAGCCCCACCCTCTTCCTCCCCACC CACCCAC		HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
HEXD_chr17_82413347_82447645	82433110	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01081.hp2 others(17): Show HG00639.hp2 HG01069.hp2 HG01081.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01433.hp2 HG01952.hp1 HG02056.hp2 NA18959.hp1 NA18966.hp1 NA19003.hp2 NA19007.hp2 NA19062.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19089.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0289 a0001c0001t0001g0347 a0001c0003t0001g0003 a0001c0003t0001g0009 a0001c0003t0001g0074 a0001c0003t0001g0154 a0001c0003t0001g0158 a0001c0003t0001g0162 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0190	20	400	0.0500	-33	c.283 others(48): Show c.283-536_283-504delATATATATTTTTTTTTTTTTTTTATATATA TAT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEY1_chr8_79759010_79772767	79768291	ACGGCGAC others(26): Show ACGGCGACGGCGGCGGCCGCGCTGGCGGCGGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	-33	c.-66 others(42): Show c.-661_-629delCCGCCGCCGCCAGCGCGGCCGCCGCCGTCGCCG		HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding					525		chr8	TogoVar
HIBADH_chr7_27520442_27667883	27613124	TTATATAT others(26): Show TTATATATATTTATATAAATATATTTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02135.hp2 NA21309.hp1 HG01109.hp2 HG02135.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0002t0001g0319 a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0002t0001g0319	3	326	0.0092	-33	c.484 others(52): Show c.484+16214_484+16246delTTTATATAAAATATATTTATATAAAT ATATATA		HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	4/7						chr7	TogoVar
HIPK4_chr19_40374271_40395181	40386940	CACCTTCC others(26): Show CACCTTCCACGTTCAAGCGATTCTCCTGCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	382	0.0026	-33	c.465 others(50): Show c.465+2465_465+2497delCTGAGGCAGGAGAATCGCTTGAACGTGG AAGGT		HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding	1/3						chr19	TogoVar
HIVEP1_chr6_12007312_12169999	12167929	GTATATTA others(26): Show GTATATTATATATACATGTACATGTATATATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03225.hp2 NA18980.hp1 others(3): Show HG02886.hp2 HG03225.hp2 NA18980.hp1 NA19005.hp1 NA19007.hp2 NA19064.hp2	a0002 a0006 a0035 a0002 a0006 a0035	a0002c0011 a0006c0009 a0035c0049 a0002c0011 a0006c0009 a0035c0049	a0002c0011t0001 a0006c0009t0001 a0035c0049t0001 a0002c0011t0001 a0006c0009t0001 a0035c0049t0001	a0002c0011t0001g0139 a0002c0011t0001g0140 a0002c0011t0001g0236 others(3): Show a0002c0011t0001g0139 a0002c0011t0001g0140 a0002c0011t0001g0236 a0006c0009t0001g0155 a0006c0009t0001g0253 a0035c0049t0001g0045	6	344	0.0174	-33	c.34 others(44): Show c.3469_*3501delTATATTATATATACATGTACATGTATATATGTA		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding					2931		chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41544831	TCACCACC others(26): Show TCACCACCACCACTACCACCACCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	134	0.0075	-33	c.520 others(54): Show c.5208-19954_5208-19922delGTGGTGGTGGTGGTGGTGGTAGTG GTGGTGGTG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41545383	CCACCACC others(26): Show CCACCACCAATACCACTACCACCAATACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	134	0.0075	-33	c.520 others(54): Show c.5208-20506_5208-20474delATGGTGGTATTGGTGGTAGTGGTA TTGGTGGTG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HJURP_chr2_233831702_233859535	233856432	GAAGATGT others(26): Show GAAGATGTAGCCTATGTCCTGCCCAATCTTGCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0159 a0007c0008t0001g0159	1	450	0.0022	-33	c.-19 others(44): Show c.-1965_-1933delAAGCAAGATTGGGCAGGACATAGGCTACATCTT		HJURP	ENSG00000123485.12	transcript	ENST00000411486.7	protein_coding					1898		chr2	TogoVar
HMCN1_chr1_185729391_186195949	185858586	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0004 a0013c0011t0004	a0013c0011t0004g0057 a0013c0011t0004g0058 a0013c0011t0004g0057 a0013c0011t0004g0058	2	92	0.0217	-33	c.340 others(50): Show c.340-5869_340-5837delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	2/106					INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130310583	GAGGGGCT others(26): Show GAGGGGCTACCCAGGGATGTGAACACCAGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(56): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02602.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp1 NA18947.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA19057.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0006 a0015 a0017 a0018 a0019 a0021 a0022 a0036 a0037 a0041 a0064 a0066 a0073 a0074 a0075 a0080 a0081 a0093 a0094 a0099 a0116 a0123 a0137 a0139 a0140 a0141 a0147 a0148 a0163 a0169 a0172 a0178 a0179 a0180	a0001c0001 a0001c0013 a0001c0017 others(46): Show a0001c0001 a0001c0013 a0001c0017 a0001c0083 a0001c0087 a0001c0096 a0002c0005 a0002c0202 a0003c0003 a0003c0009 a0004c0004 a0004c0055 a0004c0088 a0006c0021 a0006c0143 a0015c0008 a0017c0076 a0018c0065 a0018c0066 a0019c0010 a0021c0012 a0022c0018 a0036c0030 a0037c0117 a0041c0034 a0064c0056 a0066c0060 a0073c0078 a0074c0077 a0075c0110 a0080c0069 a0081c0071 a0093c0089 a0094c0090 a0099c0079 a0116c0130 a0123c0134 a0137c0140 a0139c0142 a0140c0154 a0141c0162 a0147c0161 a0148c0149 a0163c0182 a0169c0191 a0172c0204 a0178c0176 a0179c0212 a0180c0213	a0001c0001t0001 a0001c0013t0001 a0001c0017t0002 others(46): Show a0001c0001t0001 a0001c0013t0001 a0001c0017t0002 a0001c0083t0002 a0001c0087t0001 a0001c0096t0001 a0002c0005t0002 a0002c0202t0002 a0003c0003t0001 a0003c0009t0001 a0004c0004t0001 a0004c0055t0001 a0004c0088t0001 a0006c0021t0002 a0006c0143t0002 a0015c0008t0001 a0017c0076t0001 a0018c0065t0001 a0018c0066t0001 a0019c0010t0001 a0021c0012t0001 a0022c0018t0001 a0036c0030t0001 a0037c0117t0001 a0041c0034t0001 a0064c0056t0001 a0066c0060t0001 a0073c0078t0001 a0074c0077t0001 a0075c0110t0001 a0080c0069t0001 a0081c0071t0001 a0093c0089t0001 a0094c0090t0001 a0099c0079t0001 a0116c0130t0001 a0123c0134t0002 a0137c0140t0002 a0139c0142t0002 a0140c0154t0002 a0141c0162t0002 a0147c0161t0002 a0148c0149t0002 a0163c0182t0002 a0169c0191t0002 a0172c0204t0002 a0178c0176t0002 a0179c0212t0002 a0180c0213t0002	a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0064 others(56): Show a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0111 a0001c0013t0001g0093 a0001c0013t0001g0152 a0001c0017t0002g0137 a0001c0017t0002g0138 a0001c0083t0002g0136 a0001c0087t0001g0122 a0001c0096t0001g0150 a0002c0005t0002g0232 a0002c0202t0002g0187 a0003c0003t0001g0054 a0003c0003t0001g0128 a0003c0003t0001g0151 a0003c0009t0001g0123 a0004c0004t0001g0083 a0004c0055t0001g0091 a0004c0088t0001g0134 a0006c0021t0002g0183 a0006c0021t0002g0185 a0006c0143t0002g0172 a0015c0008t0001g0025 a0017c0076t0001g0005 a0018c0065t0001g0106 a0018c0066t0001g0029 a0019c0010t0001g0132 a0019c0010t0001g0135 a0021c0012t0001g0112 a0022c0018t0001g0023 a0022c0018t0001g0038 a0036c0030t0001g0076 a0037c0117t0001g0007 a0041c0034t0001g0011 a0064c0056t0001g0050 a0066c0060t0001g0116 a0073c0078t0001g0129 a0074c0077t0001g0141 a0075c0110t0001g0058 a0080c0069t0001g0059 a0081c0071t0001g0062 a0093c0089t0001g0133 a0094c0090t0001g0146 a0099c0079t0001g0012 a0116c0130t0001g0095 a0123c0134t0002g0219 a0137c0140t0002g0211 a0139c0142t0002g0244 a0140c0154t0002g0184 a0141c0162t0002g0001 a0147c0161t0002g0256 a0148c0149t0002g0182 a0163c0182t0002g0159 a0169c0191t0002g0196 a0172c0204t0002g0231 a0178c0176t0002g0224 a0179c0212t0002g0169 a0180c0213t0002g0228	59	258	0.2287	-33	c.235 others(50): Show c.2350+523_2350+555delAGGGGCTACCCAGGGATGTGAACACCAG GAGGC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97						chr9	TogoVar
HMCN2_chr9_130260760_130439123	130310599	ATGTGAAC others(26): Show ATGTGAACACCAGGAGGCGGGGGCTACCCATGGG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0170 a0170	a0170c0193 a0170c0193	a0170c0193t0002 a0170c0193t0002	a0170c0193t0002g0223 a0170c0193t0002g0223	1	258	0.0039	-33	c.235 others(50): Show c.2350+581_2350+613delCAGGAGGCGGGGGCTACCCATGGGTGTG AACAC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGB3_chrX_150978335_150995771	150983398	CCCGCCGC others(26): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp1 others(6): Show HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02451.hp1 HG03490.hp1 HG04184.hp1 NA18522.hp1 NA19080.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0008 a0001c0001t0002g0020 a0001c0001t0003g0008 others(2): Show a0001c0001t0001g0008 a0001c0001t0002g0020 a0001c0001t0003g0008 a0001c0001t0003g0020 a0001c0001t0007g0008	9	330	0.0273	-33	c.-6+ others(44): Show c.-6+45_-6+77delCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC		HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
HMGXB4_chr22_35252493_35300807	35294425	TGTCTTTC others(26): Show TGTCTTTCACTGGCAGCATGAAGTTAGCCACCAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0079 a0002c0002t0011g0079	1	342	0.0029	-33	c.77 others(42): Show c.778_*810delTTTCACTGGCAGCATGAAGTTAGCCACCAAGTC		HMGXB4	ENSG00000100281.14	transcript	ENST00000216106.6	protein_coding	11/11				778	INFO_REALIGN_3_PRIME	chr22	TogoVar
HNRNPH1_chr5_179609178_179628671	179621909	TTGCCCCC others(26): Show TTGCCCCCTGCAAGGCGGCTTCCAGCGTACTTGG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	430	0.0023	-33	c.98- others(46): Show c.98-545_98-513delCCAAGTACGCTGGAAGCCGCCTTGCAGGGGGC A		HNRNPH1	ENSG00000169045.19	transcript	ENST00000393432.9	protein_coding	2/13						chr5	TogoVar
HORMAD2_chr22_30075464_30182075	30175237	TTATATAT others(26): Show TTATATATAATATAATATAGAATATATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG02976.hp2 HG01243.hp1 HG02630.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0071	3	350	0.0086	-33	c.820 others(48): Show c.820-774_820-742delGAATATATATAATAATATATATAATATAAT ATA		HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
HPGDS_chr4_94293535_94347836	94340301	CTTTCTTT others(26): Show CTTTCTTTCTCTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	312	0.0032	-33	c.-10 others(50): Show c.-10+2461_-10+2493delAAAAAAAAAAAAAAAAAAAAAAAGAGAA AGAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HROB_chr17_44136930_44167476	44164280	GTTAGCCA others(26): Show GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	322	0.0031	-33	c.23 others(44): Show c.2349_*2381delTTAGCCAGGATGGTCTCGATCTCCTGACCTCGC		HROB	ENSG00000125319.15	transcript	ENST00000585683.6	protein_coding					1805		chr17	TogoVar
HS1BP3_chr2_20612818_20656098	20622066	CACAGCCA others(26): Show CACAGCCAGAAGGAACAAAGCCTTCTTAGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp1 others(8): Show HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG02109.hp1 HG02145.hp2 HG02647.hp2 HG03516.hp2 NA19030.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0007 a0001c0003t0021 a0001c0003t0003 a0001c0003t0007 a0001c0003t0021	a0001c0003t0003g0057 a0001c0003t0007g0010 a0001c0003t0007g0016 others(5): Show a0001c0003t0003g0057 a0001c0003t0007g0010 a0001c0003t0007g0016 a0001c0003t0007g0029 a0001c0003t0007g0114 a0001c0003t0007g0231 a0001c0003t0007g0234 a0001c0003t0021g0223	11	404	0.0272	-33	c.920 others(50): Show c.920+1797_920+1829delCGAGGCTAAGAAGGCTTTGTTCCTTCTG GCTGT		HS1BP3	ENSG00000118960.13	transcript	ENST00000304031.8	protein_coding	6/6						chr2	TogoVar
HSCB_chr22_28737039_28762510	28756450	AAACACAA others(26): Show AAACACAACCACCCACCCTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	410	0.0024	-33	c.617 others(48): Show c.617-625_617-593delCACAACCACCCACCCTTTTTTTTTTTTTTT TAA		HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD17B8_chr6_33199655_33211831	33211097	AGTTTAAA others(26): Show AGTTTAAAGTCTAAGCCCTTTATCCTGGATGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	403	0.0025	-33	c.44 others(44): Show c.4444_*4476delGTTTAAAGTCTAAGCCCTTTATCCTGGATGCCT		HSD17B8	ENSG00000204228.4	transcript	ENST00000374662.4	protein_coding					4267		chr6	TogoVar
HTRA1_chr10_122456553_122519907	122472369	CTATTATT others(26): Show CTATTATTATTATTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	362	0.0028	-33	c.472 others(52): Show c.472+10256_472+10288delATTATTATTATTATTATTATTATTAT TATTATT		HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
HTT_chr4_3069681_3248957	3227453	CCCCTGCC others(26): Show CCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCA	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	294	0.0034	-33	c.784 others(52): Show c.7849-1158_7849-1126delTGCCCTGTCTGGGGCTGAAGGACAGT GCCACCC		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HUWE1_chrX_53527096_53691719	53573314	TGCAATCT others(26): Show TGCAATCTTTGCCTCCTGGGTTCAAGTGATTCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0001 a0001	a0001c0019 a0001c0020 a0001c0019 a0001c0020	a0001c0019t0003 a0001c0020t0003 a0001c0019t0003 a0001c0020t0003	a0001c0019t0003g0029 a0001c0020t0003g0030 a0001c0019t0003g0029 a0001c0020t0003g0030	2	214	0.0094	-33	c.631 others(50): Show c.6312+403_6312+435delGGGAATCACTTGAACCCAGGAGGCAAAG ATTGC		HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	47/83						chrX	TogoVar
HYAL1_chr3_50294893_50308574	50302778	GCTACCAC others(26): Show GCTACCACATCGAAGACACTGACATCCACGTCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18747.hp1 NA18747.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0033 a0008c0008t0002g0033	1	384	0.0026	-33	c.146 others(40): Show c.146_178delTGGACGTGGATGTCAGTGTCTTCGATGTGGTAG	p.Val others(11): Show p.Val49_Val59del	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding	2/4	311/2031	146/1308	49/435			chr3	TogoVar
HYAL3_chr3_50287832_50304405	50302778	GCTACCAC others(26): Show GCTACCACATCGAAGACACTGACATCCACGTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	378	0.0027	-33	c.-36 others(44): Show c.-3616_-3584delTGGACGTGGATGTCAGTGTCTTCGATGTGGTAG		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					3374		chr3	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0003 a0001c0048t0003	a0001c0048t0003g0139 a0001c0048t0003g0139	1	174	0.0058	-33	c.114 others(54): Show c.11472-1181_11472-1149delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85						chr16	TogoVar
ICAM3_chr19_10328776_10344624	10331360	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAATAACAACAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	440	0.0023	-33	c.24 others(44): Show c.2464_*2496delGTTGTTGTTATTTTTTTTTTTTTTTTTTTTTTT		ICAM3	ENSG00000076662.11	transcript	ENST00000160262.10	protein_coding					2415		chr19	TogoVar
IFNL3_chr19_39238553_39250006	39241923	GTGATGAC others(26): Show GTGATGACATTGGGTCCAGGTGGACAACCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-33	c.16 others(44): Show c.1676_*1708delTCCTGGGTTGTCCACCTGGACCCAATGTCATCA		IFNL3	ENSG00000197110.10	transcript	ENST00000413851.3	protein_coding					1629		chr19	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(26): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01433.hp2 HG03139.hp2 others(2): Show HG00733.hp2 HG01433.hp2 HG03139.hp2 NA18906.hp2 NA18970.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0015	a0001c0002 a0003c0012 a0011c0017 others(1): Show a0001c0002 a0003c0012 a0011c0017 a0015c0023	a0001c0002t0006 a0001c0002t0007 a0003c0012t0006 others(2): Show a0001c0002t0006 a0001c0002t0007 a0003c0012t0006 a0011c0017t0002 a0015c0023t0094	a0001c0002t0006g0198 a0001c0002t0007g0060 a0003c0012t0006g0285 others(2): Show a0001c0002t0006g0198 a0001c0002t0007g0060 a0003c0012t0006g0285 a0011c0017t0002g0015 a0015c0023t0094g0096	5	310	0.0161	-33	c.684 others(52): Show c.6843-1795_6843-1763delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47						chr6	TogoVar
IL11_chr19_55359382_55375463	55361961	GGGCCCTT others(26): Show GGGCCCTTAGCTCCTCCCTAGACCCAGGAGTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	352	0.0028	-33	c.40 others(44): Show c.4013_*4045delTGGACTCCTGGGTCTAGGGAGGAGCTAAGGGCC		IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding					2420		chr19	TogoVar
IL1R2_chr2_101986960_102033544	102029435	AGACTTGC others(26): Show AGACTTGCAAGAGTAAAGGTGAGTAGGCTTAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	426	0.0024	-33	c.10 others(44): Show c.1044_*1076delGACTTGCAAGAGTAAAGGTGAGTAGGCTTAATT		IL1R2	ENSG00000115590.14	transcript	ENST00000332549.8	protein_coding					892		chr2	TogoVar
IL5RA_chr3_3061324_3115374	3085912	CTGCTGTG others(26): Show CTGCTGTGACCTCATGAATGAGTGATCTGAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG03225.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0158 a0001c0001t0173 a0002c0002t0182 a0001c0001t0158 a0001c0001t0173 a0002c0002t0182	a0001c0001t0158g0398 a0001c0001t0173g0434 a0002c0002t0182g0444 a0001c0001t0158g0398 a0001c0001t0173g0434 a0002c0002t0182g0444	3	454	0.0066	-33	c.994 others(50): Show c.994+6279_994+6311delATTTTCAGATCACTCATTCATGAGGTCA CAGCA		IL5RA	ENSG00000091181.20	transcript	ENST00000446632.7	protein_coding	9/11						chr3	TogoVar
INF2_chr14_104684618_104727535	104720513	CTCGTGTG others(26): Show CTCGTGTGGATGCTGCTGTGAACGTCTGCGTAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(189): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0016 a0018 a0021 a0022 a0024 a0026 a0027	a0001c0001 a0001c0002 a0001c0004 others(22): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0021 a0001c0025 a0001c0035 a0001c0041 a0002c0046 a0003c0019 a0003c0044 a0005c0008 a0006c0007 a0007c0012 a0008c0016 a0009c0015 a0009c0032 a0010c0011 a0016c0042 a0018c0034 a0021c0037 a0022c0039 a0024c0050 a0026c0027 a0027c0052	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0036 a0001c0001t0043 a0001c0001t0057 a0001c0001t0074 a0001c0001t0077 a0001c0001t0081 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0096 a0001c0002t0011 a0001c0002t0066 a0001c0004t0001 a0001c0005t0035 a0001c0005t0036 a0001c0005t0042 a0001c0021t0001 a0001c0021t0097 a0001c0025t0002 a0001c0035t0079 a0001c0041t0030 a0002c0046t0001 a0003c0019t0021 a0003c0019t0022 a0003c0044t0053 a0005c0008t0002 a0006c0007t0001 a0007c0012t0001 a0008c0016t0002 a0009c0015t0017 a0009c0032t0017 a0010c0011t0001 a0016c0042t0022 a0018c0034t0001 a0021c0037t0002 a0022c0039t0035 a0024c0050t0001 a0026c0027t0001 a0027c0052t0030	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0106 a0001c0001t0002g0139 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0007g0001 a0001c0001t0007g0033 a0001c0001t0007g0047 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0012g0090 a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0012g0093 a0001c0001t0012g0094 a0001c0001t0013g0002 a0001c0001t0013g0115 a0001c0001t0013g0120 a0001c0001t0013g0132 a0001c0001t0020g0228 a0001c0001t0020g0230 a0001c0001t0020g0235 a0001c0001t0021g0089 a0001c0001t0022g0102 a0001c0001t0030g0213 a0001c0001t0036g0111 a0001c0001t0043g0002 a0001c0001t0043g0039 a0001c0001t0057g0103 a0001c0001t0074g0131 a0001c0001t0077g0162 a0001c0001t0081g0130 a0001c0001t0086g0069 a0001c0001t0087g0203 a0001c0001t0089g0200 a0001c0001t0096g0141 a0001c0002t0011g0050 a0001c0002t0011g0167 a0001c0002t0011g0169 a0001c0002t0066g0170 a0001c0004t0001g0002 a0001c0004t0001g0004 a0001c0004t0001g0009 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0044 a0001c0004t0001g0063 a0001c0004t0001g0067 a0001c0004t0001g0071 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0005t0035g0174 a0001c0005t0036g0109 a0001c0005t0042g0172 a0001c0005t0042g0175 a0001c0021t0001g0002 a0001c0021t0097g0002 a0001c0025t0002g0001 a0001c0035t0079g0064 a0001c0041t0030g0210 a0002c0046t0001g0183 a0003c0019t0021g0026 a0003c0019t0022g0095 a0003c0044t0053g0099 a0005c0008t0002g0195 a0005c0008t0002g0212 a0006c0007t0001g0002 a0006c0007t0001g0022 a0006c0007t0001g0039 a0006c0007t0001g0191 a0007c0012t0001g0127 a0008c0016t0002g0045 a0008c0016t0002g0198 a0009c0015t0017g0014 a0009c0032t0017g0107 a0010c0011t0001g0002 a0016c0042t0022g0097 a0018c0034t0001g0058 a0021c0037t0002g0033 a0022c0039t0035g0122 a0024c0050t0001g0061 a0026c0027t0001g0154 a0027c0052t0030g0211	192	380	0.5053	-33	c.17 others(44): Show c.1721_*1753delTCGTGTGGATGCTGCTGTGAACGTCTGCGTAGT		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5175		chr14	TogoVar
INF2_chr14_104684618_104727535	104720547	CTCGTGTG others(26): Show CTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG02809.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0050 a0001c0002t0011g0168 a0001c0002t0011g0050 a0001c0002t0011g0168	2	380	0.0053	-33	c.17 others(44): Show c.1755_*1787delTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGT		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5209		chr14	TogoVar
INF2_chr14_104684618_104727535	104720720	CTCGTGTG others(26): Show CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00741.hp1 others(37): Show HG00140.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG02148.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18994.hp2 NA19030.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0015 a0017 a0019	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0047 a0003c0010 a0008c0029 a0015c0048 a0017c0045 a0019c0033	a0001c0001t0003 a0001c0002t0003 a0001c0002t0019 others(10): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0019 a0001c0002t0034 a0001c0005t0023 a0002c0047t0003 a0003c0010t0018 a0003c0010t0067 a0003c0010t0068 a0008c0029t0003 a0015c0048t0050 a0017c0045t0018 a0019c0033t0003	a0001c0001t0003g0206 a0001c0002t0003g0003 a0001c0002t0003g0024 others(24): Show a0001c0001t0003g0206 a0001c0002t0003g0003 a0001c0002t0003g0024 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0123 a0001c0002t0019g0019 a0001c0002t0034g0003 a0001c0005t0023g0112 a0002c0047t0003g0079 a0003c0010t0018g0053 a0003c0010t0018g0054 a0003c0010t0018g0242 a0003c0010t0067g0243 a0003c0010t0068g0053 a0008c0029t0003g0075 a0015c0048t0050g0244 a0017c0045t0018g0054 a0019c0033t0003g0003	40	380	0.1053	-33	c.19 others(44): Show c.1928_*1960delTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5382		chr14	TogoVar
INHBB_chr2_120341136_120356803	120356024	TATAATCT others(26): Show TATAATCTCCCTCTTGGGCAGGTGAGATGTACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	456	0.0022	-33	c.61 others(44): Show c.6151_*6183delATAATCTCCCTCTTGGGCAGGTGAGATGTACCC		INHBB	ENSG00000163083.6	transcript	ENST00000295228.4	protein_coding					4222		chr2	TogoVar
INO80D_chr2_205988721_206091174	205988885	TAAAATAA others(26): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03540.hp2 HG03579.hp1 others(1): Show HG02615.hp2 HG03540.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0022 a0001c0001t0002 a0001c0001t0013 a0001c0001t0022	a0001c0001t0002g0033 a0001c0001t0013g0030 a0001c0001t0013g0036 others(1): Show a0001c0001t0002g0033 a0001c0001t0013g0030 a0001c0001t0013g0036 a0001c0001t0022g0034	4	334	0.0120	-33	c.15 others(46): Show c.15450_*15482delTTTATTTTATTTTATTTTATTTTATTTTATTT T		INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding					4835		chr2	TogoVar
INO80D_chr2_205988721_206091174	206071257	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01981.hp1 others(14): Show HG00673.hp1 HG01106.hp1 HG01981.hp1 HG02055.hp2 HG02717.hp2 HG03098.hp1 HG03209.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18961.hp2 NA18964.hp2 NA18975.hp2 NA19000.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0008 a0001c0001t0030 a0001c0003t0002 others(5): Show a0001c0001t0008 a0001c0001t0030 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0002c0002t0001 a0002c0002t0033 a0002c0005t0006	a0001c0001t0008g0238 a0001c0001t0030g0062 a0001c0003t0002g0247 others(14): Show a0001c0001t0008g0238 a0001c0001t0030g0062 a0001c0003t0002g0247 a0001c0003t0002g0265 a0001c0003t0002g0269 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0290 a0001c0003t0002g0315 a0001c0003t0006g0291 a0001c0003t0006g0296 a0001c0003t0006g0301 a0001c0003t0011g0317 a0002c0002t0001g0101 a0002c0002t0033g0180 a0002c0005t0006g0328	17	334	0.0509	-33	c.-12 others(52): Show c.-123-8046_-123-8014delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10						chr2	TogoVar
INPP5D_chr2_233055342_233212903	233065619	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp2 HG00738.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0252 a0001c0001t0009g0251 a0001c0001t0006g0252 a0001c0001t0009g0251	2	310	0.0065	-33	c.134 others(50): Show c.134+5011_134+5043delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTT		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233186684	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03831.hp1 HG02486.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0002 a0002c0002t0003 a0001c0004t0002 a0002c0002t0003	a0001c0004t0002g0301 a0002c0002t0003g0197 a0001c0004t0002g0301 a0002c0002t0003g0197	2	310	0.0065	-33	c.235 others(50): Show c.2358+783_2358+815delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	21/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG1_chr7_155292878_155315235	155313553	TCTCCTCA others(26): Show TCTCCTCATTCTGCATCAATCACGTTAGTTGCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	444	0.0023	-33	c.52 others(44): Show c.5284_*5316delCTCCTCATTCTGCATCAATCACGTTAGTTGCAA		INSIG1	ENSG00000186480.13	transcript	ENST00000340368.9	protein_coding					3319		chr7	TogoVar

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