Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
HOXD1_chr2_176183668_176195907	176193041	TGTTTATA others(8): Show TGTTTATACAGGAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG02257.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	358	0.0056	-15	c.29 others(26): Show c.2900_*2914delGTTTATACAGGAAAA		HOXD1	ENSG00000128645.15	transcript	ENST00000331462.6	protein_coding					2135		chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10349702	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	314	0.0032	-15	c.-11 others(36): Show c.-111+46548_-111+46562delAAAAAAAAAAAAAAA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94315160	TGACAATC others(8): Show TGACAATCCCCAGTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(127): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0012 others(119): Show a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0058 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0004g0023 a0001c0001t0004g0164 a0001c0001t0004g0179 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0008g0184 a0001c0003t0002g0177 a0001c0003t0002g0191 a0001c0003t0002g0233	130	312	0.4167	-15	c.226 others(32): Show c.226+2698_226+2712delTCACTGGGGATTGTC		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	3/5						chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340311	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 NA19240.hp2 HG03041.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0056	3	312	0.0096	-15	c.-10 others(32): Show c.-10+2469_-10+2483delAAAAAAAAAAAAAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HPN_chr19_35036721_35071573	35048057	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	384	0.0026	-15	c.17- others(30): Show c.17-1230_17-1216delGAAAGAAAGAAAGAA		HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
HPN_chr19_35036721_35071573	35048061	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04115.hp1 NA18906.hp1 HG03239.hp2 HG04115.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0260 a0001c0001t0002g0288 a0001c0001t0002g0158 a0001c0001t0002g0260 a0001c0001t0002g0288	3	384	0.0078	-15	c.17- others(30): Show c.17-1226_17-1212delGAAAGAAAGAAAGAA		HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
HPRT1_chrX_134455165_134505668	134477015	GTTTATTT others(8): Show GTTTATTTTATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG06807.hp2 HG02572.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034	3	276	0.0109	-15	c.318 others(32): Show c.318+1684_318+1698delTATTTTATTTTATTT		HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
HPR_chr16_72058226_72082246	72079646	CAAAACCT others(8): Show CAAAACCTCTATATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	412	0.0024	-15	c.25 others(26): Show c.2566_*2580delAAAACCTCTATATCT		HPR	ENSG00000261701.9	transcript	ENST00000540303.7	protein_coding					2401		chr16	TogoVar
HPS3_chr3_149124638_149178732	149177790	TTAAAACA others(8): Show TTAAAACATTTTCAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0097 a0001c0004t0008g0097	1	392	0.0026	-15	c.55 others(26): Show c.5569_*5583delTAAAACATTTTCAAA		HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding					4059		chr3	TogoVar
HPSE2_chr10_98452077_99240852	99072927	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0109 a0001c0001t0031g0109	1	142	0.0070	-15	c.610 others(34): Show c.610+71296_610+71310delTTTTTTTTTTTTTTT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99144910	CTTACCTG others(8): Show CTTACCTGGTCATGGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG01884.hp1 others(14): Show HG00323.hp2 HG01255.hp2 HG01884.hp1 HG01928.hp1 HG01993.hp1 HG02257.hp1 HG02273.hp1 HG02895.hp1 HG02965.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18965.hp2 NA18968.hp2 NA18982.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0002c0002t0002 a0002c0002t0010	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0001t0005g0027 a0001c0001t0016g0025 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0028 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0010g0021	17	142	0.1197	-15	c.449 others(30): Show c.449-526_449-512delACCATGACCAGGTAA		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE_chr4_83287461_83339848	83312841	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0288 a0001c0003t0005g0288	1	320	0.0031	-15	c.673 others(30): Show c.673+258_673+272delTTTTTTTTTTTTTTT		HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	4/11						chr4	TogoVar
HPSE_chr4_83287461_83339848	83319707	AACATGGA others(8): Show AACATGGATATGTTGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	320	0.0031	-15	c.374 others(30): Show c.374-253_374-239delCCAACATATCCATGT		HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	2/11						chr4	TogoVar
HPSE_chr4_83287461_83339848	83339746	AAATAATA others(8): Show AAATAATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02129.hp2 NA18944.hp2 others(6): Show HG00609.hp2 HG02129.hp2 NA18944.hp2 NA18990.hp1 NA18995.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0164 a0001c0001t0002g0004 a0002c0002t0001g0132 others(6): Show a0001c0001t0001g0164 a0001c0001t0002g0004 a0002c0002t0001g0132 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0228 a0002c0002t0002g0187	9	320	0.0281	-15	c.-49 others(26): Show c.-4979_-4965delATTATTATTATTATT		HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding					4899		chr4	TogoVar
HRC_chr19_49146198_49160396	49154453	ACATCATC others(8): Show ACATCATCATCATCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG03139.hp1 HG03195.hp1 others(5): Show HG02451.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp1 NA21309.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0009 a0009c0009t0001g0009	8	406	0.0197	-15	c.770 others(22): Show c.770_784delATGATGATGATGATG	p.Asp others(13): Show p.Asp257_Asp261del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding	1/6	943/2357	770/2100	257/699			chr19	TogoVar
HRH1_chr3_11149493_11268557	11164513	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0207 a0006c0009t0001g0207	1	352	0.0028	-15	c.-36 others(32): Show c.-36+9976_-36+9990delGTTTTGTTTTGTTTT		HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11237573	AAGGATTA others(8): Show AAGGATTAAACGATTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01261.hp2 HG00741.hp2 HG01099.hp1 HG01261.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0195 a0001c0001t0001g0283 a0003c0005t0001g0221 a0001c0001t0001g0195 a0001c0001t0001g0283 a0003c0005t0001g0221	3	352	0.0085	-15	c.-35 others(34): Show c.-35-21416_-35-21402delTGAGGATTAAACGAT		HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
HR_chr8_22109419_22136010	22113648	AATTATTA others(8): Show AATTATTATTATTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA18522.hp2 HG04228.hp1 NA18522.hp2	a0026 a0027 a0026 a0027	a0026c0055 a0027c0038 a0026c0055 a0027c0038	a0026c0055t0027 a0027c0038t0028 a0026c0055t0027 a0027c0038t0028	a0026c0055t0027g0117 a0027c0038t0028g0118 a0026c0055t0027g0117 a0027c0038t0028g0118	2	408	0.0049	-15	c.20 others(26): Show c.2037_*2051delAATAATAATAATAAT		HR	ENSG00000168453.16	transcript	ENST00000381418.9	protein_coding					770		chr8	TogoVar
HS1BP3_chr2_20612818_20656098	20631516	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG01884.hp1 others(11): Show HG01175.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02717.hp1 HG02809.hp1 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG03710.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0003 a0002c0002 a0002c0020 others(2): Show a0001c0003 a0002c0002 a0002c0020 a0003c0010 a0009c0024	a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 others(5): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0002c0002t0003 a0002c0002t0008 a0002c0020t0003 a0003c0010t0010 a0009c0024t0015	a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0004g0274 others(11): Show a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0004g0274 a0001c0003t0011g0226 a0001c0003t0011g0227 a0002c0002t0003g0104 a0002c0002t0003g0120 a0002c0002t0003g0170 a0002c0002t0003g0221 a0002c0002t0003g0230 a0002c0002t0008g0236 a0002c0020t0003g0105 a0003c0010t0010g0271 a0009c0024t0015g0049	14	404	0.0347	-15	c.624 others(32): Show c.624-6639_624-6625delTTTTTTTTTTTTTTT		HS1BP3	ENSG00000118960.13	transcript	ENST00000304031.8	protein_coding	4/6						chr2	TogoVar
HS2ST1_chr1_86909635_87114982	86990828	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	154	0.0065	-15	c.124 others(34): Show c.124+75670_124+75684delATATATATTTTTTTT		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87010756	CTGTTTTG others(8): Show CTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(79): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00738.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01981.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18990.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0003c0002t0003	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(79): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0113 a0001c0001t0003g0130 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0101 a0001c0001t0012g0092 a0001c0001t0012g0093 a0001c0001t0014g0126 a0001c0001t0015g0125 a0001c0001t0015g0127 a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0001t0018g0103 a0001c0001t0018g0104 a0001c0001t0021g0080 a0001c0001t0022g0071 a0001c0001t0023g0086 a0001c0001t0024g0084 a0001c0001t0025g0069 a0001c0001t0026g0058 a0001c0001t0030g0049 a0003c0002t0003g0128	82	154	0.5325	-15	c.125 others(34): Show c.125-62140_125-62126delTTTTGTTTTGTTTTG		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87101149	GTTTTTTG others(8): Show GTTTTTTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG06807.hp2 HG02896.hp1 HG02897.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0138	3	154	0.0195	-15	c.687 others(32): Show c.687-2276_687-2262delGTTTTTTTTTTTTTT		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST3A1_chr17_13489032_13606929	13579701	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 HG02683.hp2 others(18): Show HG02040.hp2 HG02080.hp1 HG02683.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18970.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA19054.hp1 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0011 a0002c0003t0007 a0002c0003t0069 others(3): Show a0001c0001t0011 a0002c0003t0007 a0002c0003t0069 a0002c0004t0012 a0002c0004t0015 a0003c0005t0005	a0001c0001t0011g0070 a0001c0001t0011g0071 a0002c0003t0007g0278 others(18): Show a0001c0001t0011g0070 a0001c0001t0011g0071 a0002c0003t0007g0278 a0002c0003t0007g0279 a0002c0003t0007g0280 a0002c0003t0007g0282 a0002c0003t0007g0283 a0002c0003t0007g0287 a0002c0003t0007g0292 a0002c0003t0007g0293 a0002c0003t0007g0294 a0002c0003t0069g0288 a0002c0004t0012g0275 a0002c0004t0012g0276 a0002c0004t0012g0277 a0002c0004t0012g0284 a0002c0004t0012g0285 a0002c0004t0012g0290 a0002c0004t0015g0281 a0002c0004t0015g0291 a0003c0005t0005g0075	21	338	0.0621	-15	c.599 others(34): Show c.599+20815_599+20829delTTTTTTTTTTTTTTT		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13598392	ATTTTTTT others(8): Show ATTTTTTTAAAATAAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0066 a0001c0001t0020g0066	1	338	0.0030	-15	c.599 others(32): Show c.599+2124_599+2138delCTTATTTTAAAAAAA		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25692305	AGCGGCGG others(8): Show AGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0140 a0001c0001t0028g0140	1	164	0.0061	-15	c.-93 others(22): Show c.-93_-79delCGGCGGCGGCGGCGG		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/2				79	INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25758543	CTTCAGAA others(8): Show CTTCAGAAATGGATAG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0137 a0003c0003t0004g0137	1	164	0.0061	-15	c.734 others(34): Show c.734+65397_734+65411delGAAATGGATAGTTCA		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25820010	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02723.hp2 others(1): Show HG02109.hp2 HG02257.hp1 HG02723.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0002	a0001c0001t0002g0149 a0001c0001t0003g0150 a0001c0001t0007g0080 others(1): Show a0001c0001t0002g0149 a0001c0001t0003g0150 a0001c0001t0007g0080 a0002c0002t0002g0104	4	164	0.0244	-15	c.734 others(36): Show c.734+126884_734+126898delAAAAAAAAAAAAAAA		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25939315	TATTATTA others(8): Show TATTATTATTATTATC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp2 HG01167.hp2 others(25): Show HG00438.hp1 HG01071.hp2 HG01167.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01981.hp2 HG01993.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0127 others(25): Show a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0127 a0001c0001t0002g0023 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0091 a0001c0001t0003g0134 a0001c0001t0004g0062 a0001c0001t0004g0078 a0001c0001t0004g0105 a0001c0001t0006g0116 a0001c0001t0008g0160 a0001c0001t0010g0158 a0001c0001t0012g0044 a0001c0001t0019g0077 a0001c0001t0020g0097 a0001c0001t0031g0025 a0001c0001t0032g0024 a0001c0001t0039g0152 a0001c0001t0040g0043 a0001c0001t0041g0055 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0003g0061	28	164	0.1707	-15	c.735 others(36): Show c.735-196282_735-196268delCATTATTATTATTAT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	26134327	ATTTTCTT others(8): Show ATTTTCTTTTCTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0049 a0001c0007t0006g0049	1	164	0.0061	-15	c.735 others(32): Show c.735-1260_735-1246delCTTTTCTTTTCTTTT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1916062	GAGACAGG others(8): Show GAGACAGGGTGAGAAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	433	0.0023	-15	c.413 others(32): Show c.413+1834_413+1848delGTTCTCACCCTGTCT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding	1/1						chr16	TogoVar
HS6ST2_chrX_132621015_132963629	132894468	TTGTTATG others(8): Show TTGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02922.hp1 others(7): Show HG01891.hp2 HG02145.hp1 HG02922.hp1 HG03041.hp2 HG03225.hp1 HG03579.hp1 HG03834.hp2 NA18946.hp2 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0182 a0001c0001t0002g0043 a0001c0001t0002g0065 others(7): Show a0001c0001t0001g0182 a0001c0001t0002g0043 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0002t0001g0079 a0001c0002t0002g0004 a0001c0002t0002g0076 a0001c0002t0003g0075	10	201	0.0498	-15	c.947 others(34): Show c.947+62325_947+62339delTAACATAACATAACA		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4						chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96118682	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19090.hp2 HG02132.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0045 a0002c0002t0005g0040 a0001c0001t0002g0045 a0002c0002t0005g0040	2	116	0.0172	-15	c.707 others(34): Show c.707+27115_707+27129delATATATTTTTTTTTT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96135626	AAATGTGA others(8): Show AAATGTGAAAACTGTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18960.hp2 HG02080.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0109 a0001c0001t0004g0110 a0001c0001t0001g0109 a0001c0001t0004g0110	2	116	0.0172	-15	c.707 others(34): Show c.707+44060_707+44074delTGTGAAAACTGTTAA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254439	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	116	0.0086	-15	c.707 others(36): Show c.707+162872_707+162886delAAAAAAAAATATATA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254443	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	116	0.0086	-15	c.707 others(36): Show c.707+162876_707+162890delAAAAATATATATATA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317353	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0063	1	116	0.0086	-15	c.707 others(36): Show c.707+225786_707+225800delTATATATATATATAA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96478703	CACAACTC others(8): Show CACAACTCTAATTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01361.hp1 others(3): Show HG00639.hp2 HG01074.hp2 HG01361.hp1 HG02145.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0019g0014	6	116	0.0517	-15	c.708 others(36): Show c.708-353779_708-353765delTAATTTTTACAACTC		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96510086	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01106.hp1 others(13): Show HG00639.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG02055.hp1 HG02145.hp1 HG02809.hp1 HG02970.hp1 HG06807.hp2 NA19007.hp1 NA19007.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0024 a0002c0002t0005	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0002g0089 a0001c0001t0002g0113 a0001c0001t0003g0057 a0001c0001t0004g0018 a0001c0001t0006g0020 a0001c0001t0011g0058 a0001c0001t0019g0014 a0001c0001t0024g0060 a0002c0002t0005g0061	16	116	0.1379	-15	c.708 others(36): Show c.708-322360_708-322346delTATTTTATTTTATTT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96658268	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	116	0.0086	-15	c.708 others(36): Show c.708-174206_708-174192delTTTTTTTTTTTTTTT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79969376	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0085 a0002c0002t0004g0085	1	412	0.0024	-15	c.214 others(32): Show c.214-1061_214-1047delGAAAGAAAGAAAGAA		HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
HSBP1L1_chr18_79959643_79975822	79969379	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG03579.hp1 HG02258.hp2 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0108 a0001c0001t0002g0043 a0001c0001t0002g0108	3	412	0.0073	-15	c.214 others(32): Show c.214-1057_214-1043delGAAAGAAAGAAAAAA		HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
HSD11B1L_chr19_5676027_5693522	5677790	GCTGGGTG others(8): Show GCTGGGTGCTGGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-15	c.-34 others(26): Show c.-3495_-3481delCTGGGTGCTGGGAGC		HSD11B1L	ENSG00000167733.14	transcript	ENST00000339423.7	protein_coding					3236		chr19	TogoVar
HSD17B12_chr11_43675738_43861615	43690387	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0172 a0002c0002t0002g0172	1	280	0.0036	-15	c.160 others(32): Show c.160+9401_160+9415delATATATATATATATA		HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10						chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43720106	ATCTTATG others(8): Show ATCTTATGGACAAACC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG06807.hp1 HG02055.hp1 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0003g0207 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0003g0207	3	280	0.0107	-15	c.161 others(34): Show c.161-30801_161-30787delTATGGACAAACCTCT		HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B13_chr4_87298794_87327882	87308485	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02165.hp2 HG02615.hp2 others(15): Show HG01192.hp1 HG02165.hp2 HG02615.hp2 HG02647.hp2 NA18946.hp2 NA18956.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18972.hp2 NA18980.hp1 NA18985.hp2 NA18997.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp2 NA19058.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0006 a0001c0001t0001 a0001c0001t0003 a0001c0003t0006	a0001c0001t0001g0105 a0001c0001t0003g0007 a0001c0001t0003g0023 others(12): Show a0001c0001t0001g0105 a0001c0001t0003g0007 a0001c0001t0003g0023 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0210 a0001c0001t0003g0347 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0003t0006g0378 a0001c0003t0006g0380 a0001c0003t0006g0381	18	442	0.0407	-15	c.812 others(32): Show c.812+1743_812+1757delTTTTTTTTTTTTTTT		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6						chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48816808	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00639.hp2 others(96): Show HG00099.hp1 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0007 a0008c0008	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0003c0007t0001 a0008c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0283 a0001c0001t0001g0385 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0346 a0002c0002t0001g0354 a0002c0002t0001g0358 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0003t0001g0372 a0002c0003t0001g0373 a0003c0007t0001g0100 a0008c0008t0001g0242	99	394	0.2513	-15	c.370 others(32): Show c.370-1682_370-1668delGAAAGAAAGAAAGAA		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8						chr19	TogoVar
HSD17B2_chr16_82030253_82103534	82090302	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA21309.hp2 HG00099.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0044 a0001c0001t0002g0046	2	366	0.0055	-15	c.665 others(30): Show c.665-580_665-566delTTTTTTTTTTTTTTT		HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96255367	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02056.hp1 HG00738.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0002g0337 a0001c0001t0001g0175 a0001c0001t0002g0337	2	374	0.0054	-15	c.202 others(30): Show c.202-439_202-425delAAAAAAAAAAAAAAA		HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10						chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96282992	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	374	0.0027	-15	c.201 others(34): Show c.201+15409_201+15423delAAAAAAAAAAAAAAA		HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10						chr9	TogoVar
HSD17B4_chr5_119447497_119547332	119529567	TGCCCAAA others(8): Show TGCCCAAAATACCAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(94): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18989.hp1 NA18998.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0015	a0002c0002 a0003c0003 a0008c0010 others(1): Show a0002c0002 a0003c0003 a0008c0010 a0015c0014	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(4): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0003c0003t0002 a0008c0010t0001 a0008c0010t0002 a0015c0014t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(92): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0003g0329 a0002c0002t0011g0152 a0003c0003t0002g0224 a0008c0010t0001g0278 a0008c0010t0002g0020 a0015c0014t0002g0130	97	380	0.2553	-15	c.176 others(32): Show c.1768-321_1768-307delAAATACCAAGGCCCA		HSD17B4	ENSG00000133835.18	transcript	ENST00000510025.7	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr5	TogoVar

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