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
HCN2_chr19_584881_622159	620929	CGCCAGGG others(32): Show CGCCAGGGGAGGGGGAGGGGAGGAGGAAGACGGGCAGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0043 a0005c0043	a0005c0043t0006 a0005c0043t0006	a0005c0043t0006g0108 a0005c0043t0006g0108	1	408	0.0025	-39	c.44 others(50): Show c.4456_*4494delGCCAGGGGAGGGGGAGGGGAGGAGGAAGACGGGC AGGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding					3771		chr19	TogoVar
HEATR1_chr1_236544005_236609516	236560052	CGACCTCG others(32): Show CGACCTCGCTCAGACTCTGTGAGGTGCTGAATAAGCAACA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01106.hp2 others(79): Show HG00609.hp2 HG00673.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp1 HG03704.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0003 a0007 a0009 others(13): Show a0003 a0007 a0009 a0010 a0011 a0016 a0021 a0022 a0023 a0028 a0038 a0039 a0040 a0041 a0042 a0044	a0003c0003 a0003c0048 a0007c0006 others(14): Show a0003c0003 a0003c0048 a0007c0006 a0009c0011 a0010c0010 a0011c0012 a0016c0024 a0021c0019 a0022c0020 a0023c0018 a0028c0055 a0038c0040 a0039c0039 a0040c0041 a0041c0031 a0042c0033 a0044c0060	a0003c0003t0004 a0003c0003t0016 a0003c0048t0004 others(15): Show a0003c0003t0004 a0003c0003t0016 a0003c0048t0004 a0007c0006t0006 a0009c0011t0005 a0010c0010t0004 a0011c0012t0005 a0016c0024t0010 a0021c0019t0004 a0022c0020t0004 a0023c0018t0006 a0028c0055t0006 a0038c0040t0004 a0039c0039t0004 a0040c0041t0004 a0041c0031t0004 a0042c0033t0006 a0044c0060t0004	a0003c0003t0004g0001 a0003c0003t0004g0025 a0003c0003t0004g0026 others(63): Show a0003c0003t0004g0001 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0051 a0003c0003t0004g0129 a0003c0003t0004g0130 a0003c0003t0004g0132 a0003c0003t0004g0133 a0003c0003t0004g0134 a0003c0003t0004g0135 a0003c0003t0004g0152 a0003c0003t0004g0154 a0003c0003t0004g0155 a0003c0003t0004g0157 a0003c0003t0004g0158 a0003c0003t0004g0163 a0003c0003t0004g0165 a0003c0003t0004g0170 a0003c0003t0004g0171 a0003c0003t0016g0150 a0003c0048t0004g0175 a0007c0006t0006g0007 a0007c0006t0006g0287 a0007c0006t0006g0288 a0007c0006t0006g0289 a0007c0006t0006g0290 a0007c0006t0006g0291 a0007c0006t0006g0292 a0007c0006t0006g0293 a0007c0006t0006g0294 a0007c0006t0006g0295 a0007c0006t0006g0296 a0007c0006t0006g0297 a0007c0006t0006g0299 a0009c0011t0005g0043 a0009c0011t0005g0276 a0009c0011t0005g0277 a0009c0011t0005g0278 a0009c0011t0005g0279 a0010c0010t0004g0153 a0010c0010t0004g0167 a0010c0010t0004g0168 a0010c0010t0004g0169 a0010c0010t0004g0178 a0010c0010t0004g0193 a0011c0012t0005g0242 a0011c0012t0005g0252 a0011c0012t0005g0258 a0011c0012t0005g0259 a0011c0012t0005g0273 a0016c0024t0010g0281 a0016c0024t0010g0282 a0021c0019t0004g0159 a0021c0019t0004g0164 a0022c0020t0004g0161 a0022c0020t0004g0162 a0023c0018t0006g0047 a0023c0018t0006g0048 a0028c0055t0006g0286 a0038c0040t0004g0160 a0039c0039t0004g0131 a0040c0041t0004g0176 a0041c0031t0004g0151 a0042c0033t0006g0179 a0044c0060t0004g0304	82	388	0.2113	-39	c.464 others(56): Show c.4647-254_4647-216delTGTTGCTTATTCAGCACCTCACAGAGTC TGAGCGAGGTC		HEATR1	ENSG00000119285.11	transcript	ENST00000366582.8	protein_coding	33/44						chr1	TogoVar
HECA_chr6_139130080_139185802	139179561	TAAGAGCA others(32): Show TAAGAGCATGAAGCATATCTGGGAATATCTTTTGCCTTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0025 a0001c0001t0031g0025	1	314	0.0032	-39	c.24 others(50): Show c.2458_*2496delAGAGCATGAAGCATATCTGGGAATATCTTTTGCC TTTAA		HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	4/4				2458	INFO_REALIGN_3_PRIME	chr6	TogoVar
HERC4_chr10_67916905_68080283	67927391	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01070.hp2 others(4): Show HG00323.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01255.hp2 HG01884.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0247 others(4): Show a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0011g0249	7	360	0.0194	-39	c.283 others(58): Show c.2839-2243_2839-2205delTATATATATATATATATATATATATA TATATATATATAT		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24						chr10	TogoVar
HERC4_chr10_67916905_68080283	67927392	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(58): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02976.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18983.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0202 others(58): Show a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0007t0001g0234	61	360	0.1694	-39	c.283 others(58): Show c.2839-2244_2839-2206delATATATATATATATATATATATATAT ATATATATATATA		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24						chr10	TogoVar
HERC4_chr10_67916905_68080283	67927394	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03704.hp1 HG03927.hp1 others(14): Show HG03654.hp2 HG03704.hp1 HG03927.hp1 HG04228.hp1 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18968.hp1 NA18979.hp2 NA18989.hp2 NA18990.hp1 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19064.hp1 NA19078.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0223 others(14): Show a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0255 a0001c0002t0001g0269 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276	17	360	0.0472	-39	c.283 others(58): Show c.2839-2246_2839-2208delAAATATATATATATATATATATATAT ATATATATATATA		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24						chr10	TogoVar
HES4_chr1_993964_1005097	997614	AGGCCTCC others(32): Show AGGCCTCCCTCACGGGGTCTCAAGCTCCCAAGGGGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02723.hp1 NA19070.hp1 HG00438.hp2 HG02723.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	396	0.0076	-39	c.14 others(50): Show c.1406_*1444delCCCTTCCCCTTGGGAGCTTGAGACCCCGTGAGGG AGGCC		HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding					1349		chr1	TogoVar
HEXD_chr17_82413347_82447645	82433104	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0005g0061 a0001c0001t0001g0033 a0001c0001t0005g0061	2	400	0.0050	-39	c.283 others(54): Show c.283-542_283-504delATATATATATATATTTTTTTTTTTTTTTTA TATATATAT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HHAT_chr1_210323902_210681290	210357958	GTCATGAA others(32): Show GTCATGAACCTAAGAAAGTTGGAGGAAAAATATTTTTTTA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0214 a0001c0001t0019g0214	1	268	0.0037	-39	c.92- others(54): Show c.92-4891_92-4853delATGAACCTAAGAAAGTTGGAGGAAAAATAT TTTTTTATC		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99656853	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG01243.hp2 others(18): Show HG00609.hp1 HG00733.hp2 HG01243.hp2 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp1 NA18942.hp1 NA18960.hp2 NA18975.hp2 NA18983.hp1 NA18991.hp1 NA18998.hp2 NA19012.hp1 NA19043.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0002 a0001c0003t0004 others(3): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0004 a0001c0003t0015 a0002c0004t0001 a0002c0004t0005	a0001c0002t0002g0004 a0001c0002t0002g0114 a0001c0003t0002g0086 others(17): Show a0001c0002t0002g0004 a0001c0002t0002g0114 a0001c0003t0002g0086 a0001c0003t0002g0091 a0001c0003t0002g0101 a0001c0003t0002g0319 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0339 a0001c0003t0002g0345 a0001c0003t0002g0355 a0001c0003t0002g0356 a0001c0003t0004g0136 a0001c0003t0015g0328 a0001c0003t0015g0330 a0002c0004t0001g0100 a0002c0004t0001g0325 a0002c0004t0001g0329 a0002c0004t0005g0102 a0002c0004t0005g0103	21	374	0.0562	-39	c.903 others(54): Show c.903-145_903-107delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGA		HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
HHLA1_chr8_132056480_132116157	132107356	AGTGGTAC others(32): Show AGTGGTACGATGTCAGCTCACTGCAACCTCCGCCTCCCAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	380	0.0026	-39	c.-21 others(56): Show c.-21-2109_-21-2071delCTGGGAGGCGGAGGTTGCAGTGAGCTGA CATCGTACCAC		HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	1/16						chr8	TogoVar
HHLA1_chr8_132056480_132116157	132115642	TAGACATG others(32): Show TAGACATGGACTTTGCAGCCAGATTGTTGTGTTCTAGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0180 a0003c0002t0001g0180	1	380	0.0026	-39	c.-46 others(50): Show c.-4601_-4563delCTTCTAGAACACAACAATCTGGCTGCAAAGTCCA TGTCT		HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding					4486		chr8	TogoVar
HILPDA_chr7_128450878_128463418	128463296	AGTGAGGA others(32): Show AGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00621.hp1 others(38): Show HG00099.hp1 HG00408.hp1 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02523.hp1 HG03017.hp2 HG03654.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18952.hp1 NA18968.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19006.hp2 NA19067.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0006g0001 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0006g0001	41	424	0.0967	-39	c.58 others(50): Show c.5837_*5875delGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCT GGGAT		HILPDA	ENSG00000135245.10	transcript	ENST00000257696.5	protein_coding					4879		chr7	TogoVar
HIVEP3_chr1_41501365_41923922	41638321	AGAAAGAA others(32): Show AGAAAGAAAGAAAGGGAGAGAGAGAGAAAGAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(42): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03710.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18974.hp2 NA19043.hp1 NA19084.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 others(10): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011 a0015 a0016 a0018 a0019 a0023 a0033	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0002c0002 a0007c0008 a0008c0010 a0009c0009 a0010c0014 a0011c0021 a0015c0013 a0016c0023 a0018c0024 a0019c0020 a0023c0027 a0033c0019	a0001c0001t0002 a0001c0001t0078 a0001c0003t0002 others(33): Show a0001c0001t0002 a0001c0001t0078 a0001c0003t0002 a0001c0003t0028 a0001c0003t0031 a0001c0003t0034 a0001c0003t0036 a0001c0003t0038 a0001c0003t0044 a0001c0004t0006 a0001c0004t0007 a0001c0011t0004 a0002c0002t0002 a0002c0002t0008 a0002c0002t0013 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0035 a0002c0002t0037 a0002c0002t0045 a0002c0002t0056 a0007c0008t0007 a0008c0010t0004 a0008c0010t0047 a0008c0010t0049 a0009c0009t0016 a0010c0014t0040 a0010c0014t0079 a0011c0021t0004 a0015c0013t0005 a0016c0023t0010 a0018c0024t0051 a0019c0020t0008 a0023c0027t0003 a0033c0019t0015	a0001c0001t0002g0011 a0001c0001t0078g0004 a0001c0003t0002g0031 others(42): Show a0001c0001t0002g0011 a0001c0001t0078g0004 a0001c0003t0002g0031 a0001c0003t0002g0066 a0001c0003t0002g0110 a0001c0003t0002g0133 a0001c0003t0028g0029 a0001c0003t0031g0065 a0001c0003t0034g0107 a0001c0003t0036g0112 a0001c0003t0038g0097 a0001c0003t0044g0030 a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0011t0004g0033 a0002c0002t0002g0114 a0002c0002t0002g0126 a0002c0002t0008g0017 a0002c0002t0013g0099 a0002c0002t0013g0115 a0002c0002t0022g0084 a0002c0002t0023g0046 a0002c0002t0026g0100 a0002c0002t0035g0123 a0002c0002t0037g0094 a0002c0002t0045g0015 a0002c0002t0056g0134 a0007c0008t0007g0020 a0007c0008t0007g0061 a0007c0008t0007g0067 a0008c0010t0004g0038 a0008c0010t0047g0027 a0008c0010t0049g0028 a0009c0009t0016g0079 a0009c0009t0016g0082 a0010c0014t0040g0075 a0010c0014t0079g0053 a0011c0021t0004g0074 a0015c0013t0005g0002 a0015c0013t0005g0039 a0016c0023t0010g0081 a0018c0024t0051g0064 a0019c0020t0008g0070 a0023c0027t0003g0077 a0033c0019t0015g0057	45	134	0.3358	-39	c.-72 others(58): Show c.-720-9413_-720-9375delCTTTTTCTTTCTTTCTCTCTCTCTCC CTTTCTTTCTTTC		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8						chr1	TogoVar
HLA-DPA1_chr6_33059569_33078649	33060298	ATCCCAGA others(32): Show ATCCCAGACGATGGGCGGCCAGGCGGAGACGCTCTTCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02886.hp1 HG02886.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 NA18940.hp1 NA18949.hp1 NA18963.hp1 NA18963.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0004t0002 a0002c0002t0003 a0002c0003t0006	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0004g0005 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0004g0005 a0001c0001t0005g0008 a0001c0001t0010g0019 a0001c0004t0002g0017 a0002c0002t0003g0006 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0015 a0002c0002t0003g0020 a0002c0003t0006g0011	49	105	0.4667	-39	c.50 others(50): Show c.5023_*5061delAGTGAAGAGCGTCTCCGCCTGGCCGCCCATCGTC TGGGA		HLA-DPA1	ENSG00000231389.8	transcript	ENST00000692443.1	protein_coding					4270		chr6	TogoVar
HMCN1_chr1_185729391_186195949	186086791	TAGATGAT others(32): Show TAGATGATAGATAGATAGATAGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01074.hp2 others(5): Show HG00323.hp2 HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01243.hp2 HG01516.hp2 HG03486.hp1 NA19240.hp2	a0001 a0006 a0038 others(1): Show a0001 a0006 a0038 a0042	a0001c0001 a0001c0027 a0001c0035 others(3): Show a0001c0001 a0001c0027 a0001c0035 a0006c0006 a0038c0036 a0042c0037	a0001c0001t0001 a0001c0001t0002 a0001c0027t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0027t0002 a0001c0035t0001 a0006c0006t0005 a0038c0036t0005 a0042c0037t0001	a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0002g0042 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0002g0042 a0001c0027t0002g0088 a0001c0035t0001g0020 a0006c0006t0005g0080 a0038c0036t0005g0033 a0042c0037t0001g0034	8	92	0.0870	-39	c.904 others(56): Show c.9046+385_9047-387delAGATGATAGATAGATAGATAGATGATAG ATAGATAGATA		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	58/106						chr1	TogoVar
HMGCR_chr5_75332220_75367101	75356984	GCTTATGT others(32): Show GCTTATGTGGGGTTTACAGCCTAATAAACCTATCAAAAGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	390	0.0026	-39	c.198 others(56): Show c.1986+538_1986+576delTTATGTGGGGTTTACAGCCTAATAAACC TATCAAAAGTC		HMGCR	ENSG00000113161.17	transcript	ENST00000287936.9	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
HNRNPDL_chr4_82417569_82435462	82434985	GTTGGGAG others(32): Show GTTGGGAGTAGAGCTGCAGCAGAGCCCAGTTTTCCTTAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	348	0.0029	-39	c.-53 others(50): Show c.-5334_-5296delTCTAAGGAAAACTGGGCTCTGCTGCAGCTCTACT CCCAA		HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding					4524		chr4	TogoVar
HOXA11_chr7_27176157_27190232	27188896	AGGAAGTG others(32): Show AGGAAGTGGCGGCGGCCTGACGGTGCGTGTGTGTCTGCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	432	0.0023	-39	c.-37 others(50): Show c.-3791_-3753delCTGCAGACACACACGCACCGTCAGGCCGCCGCCA CTTCC		HOXA11	ENSG00000005073.6	transcript	ENST00000006015.4	protein_coding					3665		chr7	TogoVar
HRCT1_chr9_35901202_35912136	35906544	GCCTCCAC others(32): Show GCCTCCACCACCACCACCACCCCCGCCACACCCCTCACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19002.hp2 NA19002.hp2	a0052 a0052	a0052c0053 a0052c0053	a0052c0053t0001 a0052c0053t0001	a0052c0053t0001g0000 a0052c0053t0001g0000	1	430	0.0023	-39	c.281 others(46): Show c.281_319delGCCACACCCCTCACCACCTCCACCACCACCACCACCCC C	p.Arg others(12): Show p.Arg94_Pro106del	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	367/935	281/348	94/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRH3_chr20_62209960_62225278	62213302	GGGGAGGG others(32): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	368	0.0027	-39	c.26 others(50): Show c.2665_*2703delATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1657		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213522	GGGGAAGG others(32): Show GGGGAAGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02965.hp1 HG03130.hp2 others(2): Show HG01106.hp1 HG02965.hp1 HG03130.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	5	368	0.0136	-39	c.24 others(50): Show c.2445_*2483delATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCC TTCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1437		chr20	TogoVar
HS3ST2_chr16_22809162_22921338	22818766	TTCCTTCC others(32): Show TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	350	0.0029	-39	c.485 others(56): Show c.485+3672_485+3710delTCCTTCCCTCCTTCCTTCCTTCCCTCCC TCCCTCCCTTC		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1						chr16	TogoVar
HS6ST2_chrX_132621015_132963629	132637814	TTATATAT others(32): Show TTATATATATAATATTATATATAATATTTTATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	201	0.0050	-39	c.106 others(58): Show c.1068-8760_1068-8722delTATTATATATAAAATATTATATATAA TATTATATATATA		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4						chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132637853	ATATATAT others(32): Show ATATATATAATATATTATATATAATATATATATAATATTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	201	0.0050	-39	c.106 others(58): Show c.1068-8799_1068-8761delAAATATTATATATATATTATATATAA TATATTATATATA		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4						chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96254445	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0090 a0001c0001t0014g0090	1	116	0.0086	-39	c.707 others(60): Show c.707+162878_707+162916delAAATATATATATATATATATATAT ATATATATATATATA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254449	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02523.hp1 HG02895.hp1 others(5): Show HG01109.hp1 HG02523.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp1 NA18947.hp1 NA18999.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0001t0029 a0001c0004t0003	a0001c0001t0001g0038 a0001c0001t0001g0102 a0001c0001t0002g0035 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0102 a0001c0001t0002g0035 a0001c0001t0004g0026 a0001c0001t0009g0028 a0001c0001t0020g0032 a0001c0001t0029g0036 a0001c0004t0003g0104	8	116	0.0690	-39	c.707 others(60): Show c.707+162881_707+162919delTATATATATATATATATATATATA TATATATATATATAT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1						chr13	TogoVar
HSD17B2_chr16_82030253_82103534	82100185	CTTTTTGC others(32): Show CTTTTTGCCACATAAGATAACGGATTCACAGGCTTTGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	366	0.0027	-39	c.17 others(50): Show c.1750_*1788delTTTTTGCCACATAAGATAACGGATTCACAGGCTT TGAGG		HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding					1652		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84141285	GTTCACAG others(32): Show GTTCACAGGTCCCCCTGCTGCTGGTTCAGATACACCACGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0157 a0001c0001t0041g0157	1	448	0.0022	-39	c.-69 others(56): Show c.-69+3756_-69+3794delTCGTGGTGTATCTGAACCAGCAGCAGGG GGACCTGTGAA		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	1/5						chr16	TogoVar
HSF1_chr8_144286604_144319720	144313749	TCCCCGCC others(32): Show TCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0053 a0001c0009t0001g0053	1	330	0.0030	-39	c.124 others(54): Show c.1249-89_1249-51delCCGCCTCCCCGCCTCCCCGCCCCGCCTCCC CGCCCCGCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPB2_chr11_111907734_111919093	111915119	TTGGGAGT others(32): Show TTGGGAGTTATAGACCCTTCTGAAAATCTGACAAAAGCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	-39	c.12 others(50): Show c.1225_*1263delTGGGAGTTATAGACCCTTCTGAAAATCTGACAAA AGCTA		HSPB2	ENSG00000170276.6	transcript	ENST00000304298.4	protein_coding					1027		chr11	TogoVar
HSPB9_chr17_42117804_42128352	42118011	ACTGAAGC others(32): Show ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02976.hp1 HG03098.hp1 others(10): Show HG02615.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 NA18906.hp1 NA18957.hp2 NA18977.hp2 NA19066.hp1 NA19077.hp1 NA19091.hp1 NA19240.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0001c0001t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000	13	334	0.0389	-39	c.-48 others(50): Show c.-4839_-4801delCTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATG GGGGG		HSPB9	ENSG00000260325.2	transcript	ENST00000565659.2	protein_coding					4792		chr17	TogoVar
HTR4_chr5_148476547_148659527	148651707	TTATTGAA others(32): Show TTATTGAATAATATTATTGAATAAAAATATTCAATAATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02970.hp1 others(3): Show HG01884.hp1 HG02622.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0026 a0001c0001t0001 a0001c0001t0009 a0001c0001t0026	a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0009g0152 a0001c0001t0026g0186	6	310	0.0194	-39	c.-48 others(56): Show c.-48+2316_-48+2354delTTATTATTGAATATTTTTATTCAATAAT ATTATTCAATA		HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	1/6						chr5	TogoVar
ICA1L_chr2_202768176_202876766	202793177	GTACAACT others(32): Show GTACAACTCTATTGCAAATAAATTTAAAAGTCTACACAAA	G G	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	330	0.0030	-39	c.985 others(56): Show c.985+3674_985+3712delTTTGTGTAGACTTTTAAATTTATTTGCA ATAGAGTTGTA		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	10/12						chr2	TogoVar
IDH2_chr15_90078045_90107468	90092126	GTGAGCTA others(32): Show GTGAGCTATATAATTTTTTCATTATATATTACAATGTAAT	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0301 a0001c0001t0007g0301	1	440	0.0023	-39	c.116 others(54): Show c.116-521_116-483delATTACATTGTAATATATAATGAAAAAATTA TATAGCTCA		IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding	1/10						chr15	TogoVar
IFI44L_chr1_78615448_78651145	78620104	TAAATGTA others(32): Show TAAATGTAGGACAAACGAGGGAAGTAGAAAAATGCACAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0018 a0002c0002t0017g0018	1	430	0.0023	-39	c.-47 others(48): Show c.-477_-439delAAATGTAGGACAAACGAGGGAAGTAGAAAAATGCAC AAG		IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding					343		chr1	TogoVar
IFITM3_chr11_314676_325860	321899	CTGTGGTG others(32): Show CTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	31	0.0323	-39	c.-11 others(50): Show c.-1125_-1087delCTGAAGGTAATGGGATAATCCGGCTGCCTGGGCA CCACA		IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding					1040		chr11	TogoVar
IFITM3_chr11_314676_325860	322129	TTCAGTGT others(32): Show TTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATAACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	31	0.0323	-39	c.-13 others(50): Show c.-1355_-1317delGGGTTATGGGATAATCCAGCTGCCTGGGCACCAC ACTGA		IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding					1270		chr11	TogoVar
IFITM3_chr11_314676_325860	322250	CTGTGGTG others(32): Show CTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	31	0.0323	-39	c.-14 others(50): Show c.-1476_-1438delCTGAAGGTAATGGGATAATCCGGCTGCCTGGGCA CCACA		IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding					1391		chr11	TogoVar
IFNLR1_chr1_24149168_24192289	24162713	TTCTTTCT others(32): Show TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01106.hp2 others(9): Show HG00323.hp2 HG00639.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG02280.hp2 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03209.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 a0001c0002t0043	a0001c0001t0002g0135 a0001c0001t0002g0268 a0001c0001t0002g0269 others(7): Show a0001c0001t0002g0135 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0012g0002 a0001c0002t0012g0141 a0001c0002t0012g0191 a0001c0002t0043g0192	12	396	0.0303	-39	c.368 others(56): Show c.368-1068_368-1030delGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAAAGA		IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6						chr1	TogoVar
IFT43_chr14_75980763_76088742	75999243	ATATATAT others(32): Show ATATATATATATATATATATATATATATATGTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	396	0.0025	-39	c.147 others(58): Show c.147+10268_147+10306delATATATATATATATATATATATATAT ATGTATATATATT		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999245	ATATATAT others(32): Show ATATATATATATATATATATATATATATGTATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp1 others(29): Show HG00423.hp1 HG00438.hp1 HG00609.hp1 HG01099.hp1 HG01928.hp1 HG01993.hp1 HG02071.hp2 HG02148.hp1 HG02486.hp1 HG02723.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18961.hp2 NA18969.hp2 NA18983.hp1 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0117 others(28): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0326 a0001c0003t0001g0008 a0001c0003t0001g0200	32	396	0.0808	-39	c.147 others(58): Show c.147+10270_147+10308delATATATATATATATATATATATATAT GTATATATATTTT		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999247	ATATATAT others(32): Show ATATATATATATATATATATATATATGTATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01070.hp2 others(48): Show HG00280.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 NA18939.hp1 NA18946.hp2 NA18951.hp1 NA18956.hp1 NA18964.hp2 NA18972.hp2 NA18974.hp1 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA19075.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 others(46): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0003t0001g0183	51	396	0.1288	-39	c.147 others(58): Show c.147+10272_147+10310delATATATATATATATATATATATATGT ATATATATTTTTT		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999249	ATATATAT others(32): Show ATATATATATATATATATATATATGTATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp2 others(3): Show HG00642.hp1 HG00735.hp2 HG01069.hp2 HG03491.hp1 HG03831.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0141 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0174 a0001c0001t0001g0365	6	396	0.0152	-39	c.147 others(58): Show c.147+10274_147+10312delATATATATATATATATATATATGTAT ATATATTTTTTTT		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999251	ATATATAT others(32): Show ATATATATATATATATATATATGTATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	396	0.0025	-39	c.147 others(58): Show c.147+10276_147+10314delATATATATATATATATATATGTATAT ATATTTTTTTTTT		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(32): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0003 a0001c0056t0003	a0001c0056t0003g0154 a0001c0056t0003g0154	1	310	0.0032	-39	c.684 others(58): Show c.6843-1795_6843-1757delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47						chr6	TogoVar
IGLL1_chr22_23568125_23585290	23584134	GCAGCTGC others(32): Show GCAGCTGCAGCTCTCACCACCCAGGCTCACCTCACCCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	2	474	0.0042	-39	c.-39 others(50): Show c.-3983_-3945delAAGGGGTGAGGTGAGCCTGGGTGGTGAGAGCTGC AGCTG		IGLL1	ENSG00000128322.7	transcript	ENST00000330377.3	protein_coding					3845		chr22	TogoVar
IL17REL_chr22_49986811_50017765	49990041	TGGGCAGA others(32): Show TGGGCAGAGGCGCTCCTCACCTCCCAGACGATGGGCGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02280.hp2 others(3): Show HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp2 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0060 a0001c0001t0010g0064 a0001c0001t0010g0093 others(3): Show a0001c0001t0010g0060 a0001c0001t0010g0064 a0001c0001t0010g0093 a0001c0001t0010g0215 a0001c0001t0010g0285 a0001c0001t0010g0313	6	440	0.0136	-39	c.65 others(50): Show c.6595_*6633delGGCCGCCCATCGTCTGGGAGGTGAGGAGCGCCTC TGCCC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding					1769		chr22	TogoVar
IL17REL_chr22_49986811_50017765	49999672	GGGGCGCG others(32): Show GGGGCGCGGAGGTGGGTGGGGCCTAGGCCTGGCCGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0202 a0002c0002t0003g0202	1	440	0.0023	-39	c.690 others(54): Show c.690+117_690+155delGCCCCCGGCCAGGCCTAGGCCCCACCCACC TCCGCGCCC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	7/14						chr22	TogoVar
IL17REL_chr22_49986811_50017765	49999679	GGAGGTGG others(32): Show GGAGGTGGGTGGGGCCTAGGCCTGGCCGGGGGCGGGGCGC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18978.hp2 NA20752.hp2 others(1): Show HG03669.hp2 NA18978.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0295 a0002c0002t0003g0053 a0002c0002t0003g0308 a0002c0002t0002g0295 a0002c0002t0003g0053 a0002c0002t0003g0308	4	440	0.0091	-39	c.690 others(54): Show c.690+110_690+148delGCGCCCCGCCCCCGGCCAGGCCTAGGCCCC ACCCACCTC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	7/14						chr22	TogoVar

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