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
HAUS8_chr19_17044729_17080452	17055134	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01258.hp2 others(9): Show HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02015.hp2 HG02071.hp2 HG02738.hp1 NA18939.hp2 NA18944.hp1 NA18979.hp2 NA18985.hp2 NA19003.hp1 NA19070.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0002 a0001c0011t0002 a0001c0004t0002 a0001c0011t0002	a0001c0004t0002g0196 a0001c0004t0002g0297 a0001c0004t0002g0298 others(9): Show a0001c0004t0002g0196 a0001c0004t0002g0297 a0001c0004t0002g0298 a0001c0004t0002g0301 a0001c0004t0002g0302 a0001c0004t0002g0324 a0001c0004t0002g0325 a0001c0004t0002g0326 a0001c0004t0002g0329 a0001c0004t0002g0335 a0001c0004t0002g0337 a0001c0011t0002g0334	12	400	0.0300	-37	c.787 others(52): Show c.787+690_787+726delATATATATATATATATATATATATATATTT TTTTTTT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HCAR3_chr12_122709756_122721811	122716231	GATCAGCA others(30): Show GATCAGCAACTTCTTCTTCAGGAGGTGGACTGTTAGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0000 a0009c0014t0002g0000	1	424	0.0024	-37	c.470 others(44): Show c.470_506delGCCTAACAGTCCACCTCCTGAAGAAGAAGTTGCTGAT	p.Gly others(5): Show p.Gly157fs	HCAR3	ENSG00000255398.3	transcript	ENST00000528880.3	protein_coding	1/1	580/2056	470/1164	157/387			chr12	TogoVar
HCFC1_chrX_153942557_153976818	153956119	ACGGCGTG others(30): Show ACGGCGTGAGCCTCACGTGCTTCCACTTGTGTGGGGTC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	268	0.0037	-37	c.285 others(52): Show c.2856+35_2856+71delGACCCCACACAAGTGGAAGCACGTGAGGCT CACGCCG		HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	16/25						chrX	TogoVar
HDAC10_chr22_50240183_50256265	50255088	GGGTCCAC others(30): Show GGGTCCACACAGGCCCTACCCGGAGCCCCCAACTCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02109.hp1 others(4): Show HG00741.hp1 HG01884.hp2 HG02109.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG06807.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0006 a0003c0010 a0005c0014 a0001c0006 a0003c0010 a0005c0014	a0001c0006t0001 a0003c0010t0001 a0005c0014t0001 a0001c0006t0001 a0003c0010t0001 a0005c0014t0001	a0001c0006t0001g0024 a0001c0006t0001g0088 a0003c0010t0001g0036 others(1): Show a0001c0006t0001g0024 a0001c0006t0001g0088 a0003c0010t0001g0036 a0005c0014t0001g0087	7	448	0.0156	-37	c.-40 others(48): Show c.-4093_-4057delTGTGAGTTGGGGGCTCCGGGTAGGGCCTGTGTGG ACC		HDAC10	ENSG00000100429.18	transcript	ENST00000216271.10	protein_coding					3824		chr22	TogoVar
HDAC5_chr17_44071753_44128641	44101201	CAAGACCA others(30): Show CAAGACCACCCTGGCTAACACGGTGAAACACCGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	296	0.0034	-37	c.95- others(52): Show c.95-7404_95-7368delAGAGACGGTGTTTCACCGTGTTAGCCAGGG TGGTCTT		HDAC5	ENSG00000108840.16	transcript	ENST00000682912.1	protein_coding	3/26						chr17	TogoVar
HDAC9_chr7_18490749_19007416	18826836	TTCTTCCT others(30): Show TTCTTCCTTTGTAAACACAACTTTTCTGGTAAGACCCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0018 a0001c0001t0020 a0001c0002t0018	a0001c0001t0020g0141 a0001c0002t0018g0021 a0001c0001t0020g0141 a0001c0002t0018g0021	2	156	0.0128	-37	c.232 others(56): Show c.2323-2323_2323-2287delCTTCCTTTGTAAACACAACTTTTCTG GTAAGACCCAT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HEATR5A_chr14_31286788_31425550	31407590	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0207 a0003c0003t0001g0207	1	354	0.0028	-37	c.-74 others(54): Show c.-74-4578_-74-4542delATATATATATATATATATATATATATAT ATATATATA		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35						chr14	TogoVar
HEATR6_chr17_60036008_60083921	60042330	AGCTGTGA others(30): Show AGCTGTGAGGCACCGTCAGCATCCTTGCGTCCTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0085 a0001c0014t0085	a0001c0014t0085g0029 a0001c0014t0085g0029	1	250	0.0040	-37	c.11 others(48): Show c.1196_*1232delCACACAGGACGCAAGGATGCTGACGGTGCCTCAC AGC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				1196		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042366	TGGCTGTG others(30): Show TGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG02965.hp1 HG01496.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0049 a0001c0001t0045 a0001c0001t0049	a0001c0001t0045g0110 a0001c0001t0049g0034 a0001c0001t0045g0110 a0001c0001t0049g0034	2	250	0.0080	-37	c.11 others(48): Show c.1160_*1196delGCACAGGACGCGAGGATGCTGACAGTGCCTCACA GCC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				1160		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042528	TGTCAGCA others(30): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG06807.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0075 a0001c0014t0085 a0001c0001t0075 a0001c0014t0085	a0001c0001t0075g0167 a0001c0014t0085g0029 a0001c0001t0075g0167 a0001c0014t0085g0029	2	250	0.0080	-37	c.99 others(47): Show c.998_*1034delGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTG AC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				998		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042662	CGGCTGTG others(30): Show CGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0042 a0001c0001t0059g0042	1	250	0.0040	-37	c.86 others(46): Show c.864_*900delACACAGGACGCGAGGATGCTGACAGTGCCTCACAGC C		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				864		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042676	TGTCAGCA others(30): Show TGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0139 a0001c0001t0040g0139	1	250	0.0040	-37	c.85 others(46): Show c.850_*886delGGTGCCTCACAGCCACACAGGACGCGAGGATGCTGA C		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				850		chr17	TogoVar
HELZ2_chr20_63553086_63579239	63559442	CAGGGTCA others(30): Show CAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00621.hp1 others(32): Show HG00544.hp1 HG00544.hp2 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03516.hp1 HG04228.hp1 NA18939.hp1 NA18942.hp2 NA18953.hp2 NA18983.hp2 NA18986.hp2 NA19080.hp1 NA19081.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0012 a0013 a0020 a0023 a0024 a0047 a0069 a0073 a0088	a0001c0001 a0002c0015 a0005c0007 others(11): Show a0001c0001 a0002c0015 a0005c0007 a0012c0027 a0012c0101 a0013c0017 a0020c0106 a0020c0107 a0023c0020 a0024c0023 a0047c0105 a0069c0062 a0073c0067 a0088c0118	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0040 a0001c0001t0048 a0001c0001t0054 a0001c0001t0079 a0001c0001t0092 a0001c0001t0100 a0002c0015t0007 a0002c0015t0022 a0005c0007t0007 a0012c0027t0021 a0012c0027t0022 a0012c0101t0007 a0013c0017t0035 a0013c0017t0076 a0020c0106t0017 a0020c0107t0006 a0023c0020t0003 a0024c0023t0012 a0047c0105t0021 a0069c0062t0009 a0073c0067t0003 a0088c0118t0015	a0001c0001t0001g0111 a0001c0001t0002g0080 a0001c0001t0003g0259 others(28): Show a0001c0001t0001g0111 a0001c0001t0002g0080 a0001c0001t0003g0259 a0001c0001t0004g0151 a0001c0001t0008g0016 a0001c0001t0010g0183 a0001c0001t0014g0220 a0001c0001t0019g0020 a0001c0001t0040g0086 a0001c0001t0048g0089 a0001c0001t0054g0088 a0001c0001t0079g0195 a0001c0001t0092g0053 a0001c0001t0100g0227 a0002c0015t0007g0028 a0002c0015t0007g0278 a0002c0015t0022g0281 a0005c0007t0007g0317 a0012c0027t0021g0291 a0012c0027t0022g0292 a0012c0101t0007g0315 a0013c0017t0035g0017 a0013c0017t0076g0186 a0020c0106t0017g0321 a0020c0107t0006g0274 a0023c0020t0003g0109 a0024c0023t0012g0197 a0047c0105t0021g0271 a0069c0062t0009g0198 a0073c0067t0003g0083 a0088c0118t0015g0067	35	390	0.0897	-37	c.782 others(53): Show c.7826-109_7826-73delCCTCCCACCTGACCCTGACTGACTCCCAC CTGACCCT		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559639	AGGAGTCA others(30): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02451.hp1 HG02895.hp2 others(7): Show HG00323.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp1 NA18942.hp1 NA18982.hp2 NA19068.hp2	a0002 a0029 a0030 others(3): Show a0002 a0029 a0030 a0035 a0071 a0080	a0002c0002 a0002c0005 a0029c0039 others(4): Show a0002c0002 a0002c0005 a0029c0039 a0030c0018 a0035c0135 a0071c0055 a0080c0114	a0002c0002t0018 a0002c0002t0111 a0002c0005t0018 others(6): Show a0002c0002t0018 a0002c0002t0111 a0002c0005t0018 a0029c0039t0090 a0029c0039t0094 a0030c0018t0010 a0035c0135t0112 a0071c0055t0113 a0080c0114t0108	a0002c0002t0018g0334 a0002c0002t0111g0345 a0002c0005t0018g0328 others(6): Show a0002c0002t0018g0334 a0002c0002t0111g0345 a0002c0005t0018g0328 a0029c0039t0090g0082 a0029c0039t0094g0081 a0030c0018t0010g0023 a0035c0135t0112g0257 a0071c0055t0113g0256 a0080c0114t0108g0254	10	390	0.0256	-37	c.782 others(54): Show c.7825+252_7826-270delGACCTGACCCTGACTCCTCCCACCTGAC CCTGACTCC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HERC1_chr15_63603618_63838948	63737481	GATATATA others(30): Show GATATATATATATACATATATATATCTTTTTTCCAGAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG03516.hp1 HG02559.hp2 HG03195.hp2 HG03516.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0021 a0004c0014t0001g0022 a0004c0014t0001g0069 a0004c0014t0001g0021 a0004c0014t0001g0022 a0004c0014t0001g0069	3	216	0.0139	-37	c.252 others(56): Show c.2521-2669_2521-2633delATCTGGAAAAAAGATATATATATGTA TATATATATAT		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77						chr15	TogoVar
HERC4_chr10_67916905_68080283	67927394	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	360	0.0028	-37	c.283 others(56): Show c.2839-2244_2839-2208delATATATATATATATATATATATATAT ATATATATATA		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24						chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35632246	TTATATAA others(30): Show TTATATAATCATATATAAATCATATATATAATCATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0006t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0012 a0002c0002t0020 a0003c0003t0001 a0004c0004t0001 a0005c0005t0003 a0006c0007t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(317): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0005g0102 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0006g0026 a0001c0001t0006g0058 a0001c0001t0006g0069 a0001c0001t0006g0096 a0001c0001t0006g0111 a0001c0001t0006g0209 a0001c0001t0007g0131 a0001c0001t0007g0136 a0001c0001t0007g0149 a0001c0001t0007g0174 a0001c0001t0007g0183 a0001c0001t0008g0124 a0001c0001t0008g0151 a0001c0001t0008g0168 a0001c0001t0008g0171 a0001c0001t0010g0013 a0001c0001t0010g0076 a0001c0001t0010g0077 a0001c0001t0011g0222 a0001c0001t0011g0223 a0001c0001t0011g0224 a0001c0001t0014g0125 a0001c0001t0015g0052 a0001c0001t0016g0133 a0001c0001t0017g0157 a0001c0001t0018g0218 a0001c0001t0022g0392 a0001c0006t0001g0036 a0002c0002t0002g0228 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0348 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0002g0369 a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0373 a0002c0002t0002g0374 a0002c0002t0002g0375 a0002c0002t0002g0376 a0002c0002t0002g0377 a0002c0002t0002g0378 a0002c0002t0002g0379 a0002c0002t0002g0380 a0002c0002t0002g0381 a0002c0002t0002g0382 a0002c0002t0002g0383 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0386 a0002c0002t0002g0387 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0004g0331 a0002c0002t0009g0315 a0002c0002t0009g0357 a0002c0002t0009g0358 a0002c0002t0009g0361 a0002c0002t0012g0294 a0002c0002t0012g0302 a0002c0002t0012g0322 a0002c0002t0020g0390 a0003c0003t0001g0039 a0003c0003t0001g0055 a0003c0003t0001g0066 a0003c0003t0001g0082 a0004c0004t0001g0021 a0004c0004t0001g0027 a0005c0005t0003g0194 a0006c0007t0003g0134	320	392	0.8163	-37	c.14 others(48): Show c.1407_*1443delTATATGATTATATATATGATTTATATATGATTAT ATA		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding					412		chr7	TogoVar
HEXD_chr17_82413347_82447645	82433106	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02630.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	400	0.0050	-37	c.283 others(52): Show c.283-540_283-504delATATATATATATTTTTTTTTTTTTTTTATA TATATAT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HIBCH_chr2_190198920_190324826	190314277	AAATATAT others(30): Show AAATATATATATATGTATATATACATATATATGTGTAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(113): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0005 a0001c0001 a0002c0002 a0007c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0002t0002 a0002c0002t0006 a0007c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0006g0232 a0001c0001t0006g0297 a0001c0001t0007g0106 a0001c0001t0010g0088 a0001c0001t0010g0125 a0002c0002t0002g0009 a0002c0002t0002g0244 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0006g0247 a0002c0002t0006g0252 a0007c0005t0001g0111 a0007c0005t0001g0112	116	368	0.3152	-37	c.36- others(52): Show c.36-3518_36-3482delATACACATATATATGTATATATACATATAT ATATATT		HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/13						chr2	TogoVar
HIBCH_chr2_190198920_190324826	190314279	ATATATAT others(30): Show ATATATATATATGTATATATACATATATATGTGTATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01081.hp1 others(53): Show HG00280.hp1 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0002c0002t0005 a0002c0002t0018 a0006c0006t0012	a0001c0001t0001g0005 a0001c0001t0001g0083 a0001c0001t0001g0084 others(51): Show a0001c0001t0001g0005 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0011g0353 a0002c0002t0002g0008 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0312 a0002c0002t0005g0274 a0002c0002t0005g0298 a0002c0002t0018g0311 a0006c0006t0012g0356	56	368	0.1522	-37	c.36- others(52): Show c.36-3520_36-3484delATATACACATATATATGTATATATACATAT ATATATA		HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/13						chr2	TogoVar
HIGD1A_chr3_42777908_42809490	42798135	GCCTCTGC others(30): Show GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	400	0.0025	-37	c.-22 others(54): Show c.-22-3897_-22-3861delGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGG		HIGD1A	ENSG00000181061.14	transcript	ENST00000321331.12	protein_coding	1/3						chr3	TogoVar
HILPDA_chr7_128450878_128463418	128463354	TGGCCGCC others(30): Show TGGCCGCCCAGTCTGGGAAGTGAGGAGCGCCTCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-37	c.58 others(48): Show c.5895_*5931delGGCCGCCCAGTCTGGGAAGTGAGGAGCGCCTCTT CCC		HILPDA	ENSG00000135245.10	transcript	ENST00000257696.5	protein_coding					4937		chr7	TogoVar
HIVEP2_chr6_142746469_142950176	142862421	CATGTATC others(30): Show CATGTATCATATATTTTATAATACATATAATCGATTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(106): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18974.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19056.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19088.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0024 a0001c0029 a0001c0038 a0001c0040 a0010c0034	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0009 a0001c0005t0013 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0011t0006 a0001c0012t0004 a0001c0012t0014 a0001c0013t0002 a0001c0014t0001 a0001c0015t0001 a0001c0016t0001 a0001c0022t0001 a0001c0024t0003 a0001c0029t0001 a0001c0038t0002 a0001c0040t0001 a0010c0034t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(106): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0004g0271 a0001c0001t0004g0284 a0001c0001t0004g0287 a0001c0001t0011g0207 a0001c0002t0002g0027 a0001c0002t0002g0038 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0069 a0001c0002t0002g0079 a0001c0002t0002g0083 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0136 a0001c0002t0002g0147 a0001c0003t0001g0023 a0001c0004t0001g0012 a0001c0004t0001g0025 a0001c0004t0001g0053 a0001c0004t0001g0141 a0001c0005t0003g0196 a0001c0005t0003g0262 a0001c0005t0003g0264 a0001c0005t0005g0004 a0001c0005t0005g0113 a0001c0005t0005g0276 a0001c0005t0005g0279 a0001c0005t0005g0281 a0001c0005t0009g0021 a0001c0005t0009g0282 a0001c0005t0013g0280 a0001c0006t0001g0003 a0001c0006t0001g0008 a0001c0006t0001g0139 a0001c0006t0001g0218 a0001c0006t0001g0219 a0001c0007t0001g0247 a0001c0008t0002g0089 a0001c0008t0002g0171 a0001c0009t0002g0018 a0001c0009t0002g0078 a0001c0009t0002g0283 a0001c0011t0006g0127 a0001c0011t0006g0212 a0001c0012t0004g0267 a0001c0012t0014g0199 a0001c0013t0002g0072 a0001c0013t0002g0146 a0001c0013t0002g0170 a0001c0014t0001g0208 a0001c0014t0001g0209 a0001c0015t0001g0035 a0001c0015t0001g0265 a0001c0016t0001g0060 a0001c0016t0001g0074 a0001c0022t0001g0210 a0001c0022t0001g0258 a0001c0024t0003g0197 a0001c0024t0003g0285 a0001c0029t0001g0268 a0001c0038t0002g0191 a0001c0040t0001g0277 a0010c0034t0001g0188	109	288	0.3785	-37	c.-64 others(58): Show c.-640-25411_-640-25375delATAATCGATTATATGTATTATAAA ATATATGATACAT		HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	1/9						chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32583991	TCTCTCTG others(30): Show TCTCTCTGTCTCTCTCTGTCTCTCTCTCACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02280.hp2 others(3): Show HG01109.hp1 HG01891.hp1 HG02280.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0007 a0010c0011t0007	a0010c0011t0007g0012 a0010c0011t0007g0090 a0010c0011t0007g0012 a0010c0011t0007g0090	6	208	0.0289	-37	c.370 others(51): Show c.370+81_370+117delGTGTGTGTGTGAGAGAGAGACAGAGAGAGAC AGAGAG		HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5						chr6	TogoVar
HLA-E_chr6_30484509_30499194	30487856	AGAGGAGA others(30): Show AGAGGAGAGCAGCTCTGCCAAGTCAACTTCTCCACTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA19030.hp1 HG02970.hp2 NA19030.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	2	457	0.0044	-37	c.-16 others(48): Show c.-1675_-1639delGAGGAGAGCAGCTCTGCCAAGTCAACTTCTCCAC TAG		HLA-E	ENSG00000204592.9	transcript	ENST00000376630.5	protein_coding					1652		chr6	TogoVar
HLCS_chr21_36743626_36971669	36958724	GGTTGCAG others(30): Show GGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG03209.hp2 others(1): Show HG00639.hp1 HG02280.hp2 HG03209.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0041 a0002c0002t0062 a0002c0002t0025 a0002c0002t0041 a0002c0002t0062	a0002c0002t0025g0146 a0002c0002t0025g0149 a0002c0002t0041g0148 others(1): Show a0002c0002t0025g0146 a0002c0002t0025g0149 a0002c0002t0041g0148 a0002c0002t0062g0145	4	258	0.0155	-37	c.330 others(54): Show c.330+3275_330+3311delGCTGGAGTGCAGTGGTGCGATCTCAGCT CACTGCAAC		HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	2/10						chr21	TogoVar
HM13_chr20_31509442_31574543	31556145	TCTCCTGC others(30): Show TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	202	0.0050	-37	c.808 others(54): Show c.808+1318_808+1354delTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTATAGGC		HM13	ENSG00000101294.19	transcript	ENST00000398174.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
HMCN2_chr9_130260760_130439123	130311201	CGCAGAGA others(30): Show CGCAGAGAATCGAGAATGTGCTGGTCTGGGCTGAATGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0170 a0170	a0170c0193 a0170c0193	a0170c0193t0002 a0170c0193t0002	a0170c0193t0002g0223 a0170c0193t0002g0223	1	258	0.0039	-37	c.235 others(56): Show c.2350+1143_2350+1179delAGAGAATCGAGAATGTGCTGGTCTGG GCTGAATGGGC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55543284	AATATATT others(30): Show AATATATTATATATCATATATGATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02622.hp1 others(3): Show HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0238 a0001c0001t0004g0328 a0001c0001t0005g0220 others(3): Show a0001c0001t0001g0238 a0001c0001t0004g0328 a0001c0001t0005g0220 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0277	6	334	0.0180	-37	c.109 others(54): Show c.109-1181_109-1145delATTATATATTATATATCATATATGATAT ATAATATAT		HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	1/8						chr6	TogoVar
HNF4A_chr20_44350699_44437845	44375255	TTAAGTTC others(30): Show TTAAGTTCCTTGTAGGTTCTAGCTCCTTGTAGAATTGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	322	0.0031	-37	c.49+ others(54): Show c.49+19417_49+19453delGTTCTAGCTCCTTGTAGAATTGCTAAGT TCCTTGTAG		HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr20	TogoVar
HOXD8_chr2_176124705_176137695	176134398	CTCCAATG others(30): Show CTCCAATGTTAACACTGAATGAAAGAACCAAGCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	400	0.0025	-37	c.27 others(48): Show c.2787_*2823delTCCAATGTTAACACTGAATGAAAGAACCAAGCCT TCT		HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding					1704		chr2	TogoVar
HPR_chr16_72058226_72082246	72081747	CGGCCTGT others(30): Show CGGCCTGTCCCCTTATGAAACGCTCTACAGATTGCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	412	0.0024	-37	c.46 others(48): Show c.4667_*4703delGGCCTGTCCCCTTATGAAACGCTCTACAGATTGC CAT		HPR	ENSG00000261701.9	transcript	ENST00000540303.7	protein_coding					4502		chr16	TogoVar
HPSE2_chr10_98452077_99240852	98609753	ACTAGAAC others(30): Show ACTAGAACTCATGAATCTTACCATAGTTCCAGGCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02273.hp1 NA18965.hp1 HG01981.hp2 HG02273.hp1 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0014 a0002c0002t0002g0017 a0002c0002t0002g0120 a0001c0001t0001g0014 a0002c0002t0002g0017 a0002c0002t0002g0120	3	142	0.0211	-37	c.132 others(56): Show c.1320+5114_1320+5150delAGGAGCCTGGAACTATGGTAAGATTC ATGAGTTCTAG		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11						chr10	TogoVar
HSD17B14_chr19_48808018_48841491	48834421	TTGGACTC others(30): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG02615.hp1 others(3): Show HG01261.hp2 HG01358.hp1 HG02615.hp1 HG02615.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0213	6	394	0.0152	-37	c.128 others(51): Show c.128-100_128-64delGGCCCCCAGCACCTCCTCCCTCAGACCCAGG AGTCCA		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834448	TGCTGGGG others(30): Show TGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00738.hp2 others(14): Show HG00423.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01123.hp1 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02273.hp2 NA18970.hp1 NA18981.hp1 NA19068.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0102 others(14): Show a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0195 a0001c0001t0001g0209 a0003c0007t0001g0100	17	394	0.0432	-37	c.128 others(51): Show c.128-127_128-91delCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCCAGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834493	TCTGGACT others(30): Show TCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02735.hp1 HG02886.hp1 others(4): Show HG02040.hp1 HG02735.hp1 HG02886.hp1 NA18747.hp2 NA18983.hp1 NA18999.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0002c0002t0001g0309 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0354	7	394	0.0178	-37	c.128 others(52): Show c.128-172_128-136delGCCCCCAGGCCCTACTTCCTCAGACCCAGG AGTCCAG		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834528	GGCCTGGA others(30): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18956.hp1 NA19074.hp1 HG00558.hp2 NA18956.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0286 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0286	3	394	0.0076	-37	c.128 others(52): Show c.128-207_128-171delTCCCAGCCCTTCCTCCCTCAGACCCAGGAG TCCAGGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834565	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	394	0.0025	-37	c.128 others(52): Show c.128-244_128-208delCCCCAGGCCCTACTTCCTCGGACCCAGGAG TCCAGGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834639	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02735.hp1 NA18999.hp2 others(1): Show HG02040.hp1 HG02735.hp1 NA18999.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 others(1): Show a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312	4	394	0.0102	-37	c.128 others(52): Show c.128-318_128-282delCCCCAGGCCCTACTTCCTCGGACCCAGGAG TCCAGGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834704	AGGGCTGG others(30): Show AGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 NA18940.hp2 others(3): Show HG02965.hp2 HG03225.hp1 NA18940.hp2 NA18947.hp2 NA18968.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0210 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0002c0002t0001g0291	6	394	0.0152	-37	c.128 others(52): Show c.128-383_128-347delCTCCTCCCTCAGACCCAGGAGTCCAGGCTC CCAGCCC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834787	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01943.hp1 HG04199.hp2 others(1): Show HG01099.hp2 HG01943.hp1 HG04199.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0041 a0002c0002t0001g0308 a0002c0002t0001g0341 others(1): Show a0001c0001t0001g0041 a0002c0002t0001g0308 a0002c0002t0001g0341 a0002c0002t0001g0342	4	394	0.0102	-37	c.128 others(52): Show c.128-466_128-430delCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834934	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18956.hp1 NA19074.hp1 HG00558.hp2 NA18956.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0286 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0286	3	394	0.0076	-37	c.128 others(52): Show c.128-613_128-577delCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835260	CTGGGGGC others(30): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	394	0.0025	-37	c.127 others(52): Show c.127+508_127+544delTCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCCCA		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835583	GGAGGGGC others(30): Show GGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp2 HG02015.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0032 a0001c0001t0001g0033	2	394	0.0051	-37	c.127 others(52): Show c.127+185_127+221delTGCCCTCAGACCCAGGAGTCCAGGTCCCCA GCCCCTC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835608	GGGTCTGA others(30): Show GGGTCTGAGGGCAGAGGGGCTGGGGGCCTGGACTCCTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03209.hp2 HG02109.hp2 HG02965.hp2 HG03209.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0011 a0002c0002 a0005c0011	a0002c0002t0001 a0005c0011t0001 a0002c0002t0001 a0005c0011t0001	a0002c0002t0001g0289 a0002c0002t0001g0291 a0005c0011t0001g0290 a0002c0002t0001g0289 a0002c0002t0001g0291 a0005c0011t0001g0290	3	394	0.0076	-37	c.127 others(52): Show c.127+160_127+196delTAGGAGTCCAGGCCCCCAGCCCCTCTGCCC TCAGACC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48836699	CCCCAGCC others(30): Show CCCCAGCCCCTCCTCCCTCAGACTCGGGAGTCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	394	0.0025	-37	c.-32 others(46): Show c.-325_-289delAGGCTGGACTCCCGAGTCTGAGGGAGGAGGGGCTGG G		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding					209		chr19	TogoVar
HSDL1_chr16_84117141_84150177	84142099	TTTTGTGT others(30): Show TTTTGTGTGTGTAGAGATGAGGTTTCACCATGTTGCCC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	448	0.0022	-37	c.-69 others(54): Show c.-69+2944_-69+2980delGGGCAACATGGTGAAACCTCATCTCTAC ACACACAAA		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	1/5						chr16	TogoVar
HSF1_chr8_144286604_144319720	144308544	GTGCTTTG others(30): Show GTGCTTTGTGAGTGGAAATGTGGCCAGAGTGCGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0288 a0001c0001t0007g0288	1	330	0.0030	-37	c.118 others(52): Show c.118-344_118-308delTGTGGCCAGAGTGCGGCGGATGCTTTGTGA GTGGAAA		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPB8_chr12_119173931_119199746	119199127	GGACACCT others(30): Show GGACACCTACCATGTGCAAGGCACTGGGCTGGGTGTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	418	0.0024	-37	c.52 others(48): Show c.5270_*5306delGACACCTACCATGTGCAAGGCACTGGGCTGGGTG TTA		HSPB8	ENSG00000152137.8	transcript	ENST00000281938.7	protein_coding					4382		chr12	TogoVar
HSPBAP1_chr3_122734999_122798831	122780887	CGGGCAGA others(30): Show CGGGCAGAGGCACTCCTCACATCCCAGACGGGGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(167): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0004c0004 a0006c0013 a0008c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0007t0002 a0002c0002t0003 a0004c0004t0002 a0006c0013t0002 a0008c0010t0003	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0015 others(155): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0005g0215 a0001c0001t0005g0218 a0001c0001t0005g0266 a0001c0001t0006g0315 a0001c0001t0006g0316 a0001c0007t0002g0262 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0148 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0287 a0004c0004t0002g0016 a0004c0004t0002g0203 a0004c0004t0002g0204 a0004c0004t0002g0224 a0004c0004t0002g0225 a0004c0004t0002g0226 a0004c0004t0002g0227 a0004c0004t0002g0228 a0004c0004t0002g0260 a0004c0004t0002g0267 a0004c0004t0002g0275 a0006c0013t0002g0259 a0008c0010t0003g0173	170	350	0.4857	-37	c.65- others(52): Show c.65-3018_65-2982delCGCCGCCCCGTCTGGGATGTGAGGAGTGCC TCTGCCC		HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7						chr3	TogoVar

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