Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HIPK3_chr11_33252381_33362023	33301821	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01070.hp2 others(19): Show HG00140.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp1 HG01516.hp1 HG02129.hp2 HG02647.hp2 HG03139.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp1 NA18955.hp1 NA18964.hp1 NA18982.hp2 NA18989.hp2 NA19011.hp1 NA19083.hp2 NA19086.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0107 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0068 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0004g0181 a0002c0002t0002g0324 a0002c0002t0002g0326	22	342	0.0643	20	c.109 others(41): Show c.1097+14325_1097+14344dupACACACACACACACACACAC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33310281	T T	TATCTTAT others(13): Show TATCTTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18972.hp2 NA19060.hp2 others(1): Show HG03579.hp1 NA18972.hp2 NA19060.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0192 a0001c0001t0004g0205	4	342	0.0117	20	c.109 others(41): Show c.1098-18229_1098-18228insATCTTATCTATCTATCTATC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16			chr11	TogoVar
HIPK3_chr11_33252381_33362023	33310281	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(26): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02572.hp1 HG02647.hp2 HG02698.hp1 HG03927.hp2 HG04184.hp2 NA18945.hp1 NA18955.hp1 NA19009.hp2 NA19030.hp2 NA19060.hp1 NA19077.hp1 NA19082.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0019 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202	29	342	0.0848	20	c.109 others(41): Show c.1098-18222_1098-18203dupTCTATCTATCTATCTATCTA	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33311910	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03490.hp1 HG03654.hp2 HG01496.hp1 HG03490.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221	3	342	0.0088	20	c.109 others(41): Show c.1098-16593_1098-16574dupACACACACACACACACACAC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33311975	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	342	0.0029	20	c.109 others(41): Show c.1098-16532_1098-16513dupACACACACACACACACACAC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp1 NA19088.hp2 HG01106.hp1 HG01169.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0335 a0001c0001t0003g0338 a0001c0012t0003g0350 a0001c0001t0003g0335 a0001c0001t0003g0338 a0001c0012t0003g0350	3	364	0.0082	20	c.936 others(37): Show c.936+1480_936+1499dupTTTTTTTTTTTTTTTTTTTT	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24			chr22	TogoVar
HIRA_chr22_19325698_19436733	19414936	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02622.hp1 HG01981.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0328 a0001c0001t0005g0324 a0001c0001t0003g0328 a0001c0001t0005g0324	2	364	0.0055	20	c.38- others(35): Show c.38-4178_38-4159dupATAAATAAATAAATAAATAA	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	1/24			chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12046845	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG02004.hp2 others(22): Show HG01099.hp2 HG01167.hp1 HG02004.hp2 HG02027.hp1 HG02135.hp2 HG02622.hp2 HG02922.hp1 HG03453.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp2 NA18954.hp2 NA18960.hp1 NA18970.hp2 NA18972.hp2 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19010.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0022 a0026 a0030 a0031 a0035	a0001c0001 a0001c0005 a0002c0002 others(7): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0005c0008 a0022c0023 a0026c0031 a0030c0026 a0031c0027 a0035c0049	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0005c0008t0001 a0022c0023t0001 a0026c0031t0001 a0030c0026t0001 a0031c0027t0001 a0035c0049t0001	a0001c0001t0001g0022 a0001c0001t0001g0101 a0001c0001t0001g0103 others(22): Show a0001c0001t0001g0022 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0299 a0001c0001t0002g0217 a0001c0005t0001g0098 a0002c0002t0001g0021 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0133 a0002c0002t0001g0306 a0003c0003t0001g0086 a0005c0008t0001g0310 a0022c0023t0001g0239 a0026c0031t0001g0128 a0030c0026t0001g0219 a0031c0027t0001g0203 a0035c0049t0001g0045	25	344	0.0727	20	c.40+ others(37): Show c.40+31189_40+31208dupGTGTGTGTGTGTGTGTGTGT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12051001	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02698.hp2 others(2): Show HG01257.hp2 HG01258.hp2 HG02698.hp2 HG02970.hp2 NA18952.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0002c0007 others(1): Show a0001c0001 a0001c0005 a0002c0007 a0008c0020	a0001c0001t0001 a0001c0005t0001 a0002c0007t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0007t0001 a0008c0020t0001	a0001c0001t0001g0184 a0001c0005t0001g0244 a0002c0007t0001g0001 others(1): Show a0001c0001t0001g0184 a0001c0005t0001g0244 a0002c0007t0001g0001 a0008c0020t0001g0094	5	344	0.0145	20	c.40+ others(37): Show c.40+35344_40+35363dupATATATATATATATATATAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142750729	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0265 a0001c0015t0001g0265	1	288	0.0035	20	c.23 others(31): Show c.2377_*2378insGTGTGTGTGTGTGTGTGTGT	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding		739		chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793673	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA21309.hp1 HG02922.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0032 a0001c0009 a0001c0032	a0001c0009t0002 a0001c0032t0001 a0001c0009t0002 a0001c0032t0001	a0001c0009t0002g0283 a0001c0032t0001g0270 a0001c0009t0002g0283 a0001c0032t0001g0270	2	288	0.0069	20	c.-52 others(41): Show c.-527-10078_-527-10059dupGAGAGAGAGAGAGAGAGAGA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41598806	G G	GTTATTTA others(13): Show GTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0120 a0001c0001t0018g0120	1	134	0.0075	20	c.-52 others(41): Show c.-521-13508_-521-13489dupATAAATAAATAAATAAATAA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	3/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41638256	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02145.hp1 HG02258.hp2 others(7): Show HG00621.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02896.hp2 HG03130.hp1 HG03130.hp2 HG03579.hp2 NA18945.hp1	a0001 a0003 a0009 others(5): Show a0001 a0003 a0009 a0015 a0021 a0024 a0027 a0033	a0001c0001 a0001c0003 a0003c0006 others(6): Show a0001c0001 a0001c0003 a0003c0006 a0009c0009 a0015c0013 a0021c0040 a0024c0030 a0027c0026 a0033c0019	a0001c0001t0002 a0001c0003t0034 a0003c0006t0030 others(6): Show a0001c0001t0002 a0001c0003t0034 a0003c0006t0030 a0009c0009t0016 a0015c0013t0005 a0021c0040t0043 a0024c0030t0025 a0027c0026t0054 a0033c0019t0015	a0001c0001t0002g0011 a0001c0003t0034g0107 a0003c0006t0030g0045 others(7): Show a0001c0001t0002g0011 a0001c0003t0034g0107 a0003c0006t0030g0045 a0009c0009t0016g0082 a0015c0013t0005g0002 a0015c0013t0005g0039 a0021c0040t0043g0078 a0024c0030t0025g0090 a0027c0026t0054g0076 a0033c0019t0015g0057	10	134	0.0746	20	c.-72 others(39): Show c.-720-9329_-720-9310dupTTCTTTCTTTCTTTCTTTCT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41665707	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00673.hp1 others(16): Show HG00140.hp1 HG00140.hp2 HG00673.hp1 HG01243.hp2 HG02056.hp1 HG02559.hp1 HG02735.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03710.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18974.hp2	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0015 a0018 a0020 a0032	a0001c0001 a0001c0003 a0001c0032 others(6): Show a0001c0001 a0001c0003 a0001c0032 a0002c0002 a0009c0009 a0015c0013 a0018c0024 a0020c0042 a0032c0037	a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 others(14): Show a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0078 a0001c0003t0002 a0001c0003t0031 a0001c0003t0036 a0001c0003t0038 a0001c0032t0075 a0002c0002t0002 a0002c0002t0013 a0009c0009t0016 a0015c0013t0005 a0018c0024t0051 a0020c0042t0086 a0032c0037t0071	a0001c0001t0068g0124 a0001c0001t0072g0006 a0001c0001t0073g0116 others(16): Show a0001c0001t0068g0124 a0001c0001t0072g0006 a0001c0001t0073g0116 a0001c0001t0076g0098 a0001c0001t0078g0004 a0001c0003t0002g0031 a0001c0003t0002g0110 a0001c0003t0031g0065 a0001c0003t0036g0112 a0001c0003t0038g0097 a0001c0032t0075g0069 a0002c0002t0002g0126 a0002c0002t0013g0099 a0009c0009t0016g0079 a0015c0013t0005g0002 a0015c0013t0005g0039 a0018c0024t0051g0064 a0020c0042t0086g0047 a0032c0037t0071g0117	19	134	0.1418	20	c.-72 others(41): Show c.-721+35189_-721+35208dupGTGTGTGTGTGTGTGTGTGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41722403	G G	GCCTGCCT others(13): Show GCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0014 a0013c0015t0014	a0013c0015t0014g0024 a0013c0015t0014g0024	1	134	0.0075	20	c.-80 others(41): Show c.-800-21409_-800-21408insAAGGAAGGAAGGAAGGCAGG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41722403	G G	GCCTGCCT others(13): Show GCCTGCCTTGCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00642.hp1 others(25): Show HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01358.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18946.hp2 NA18961.hp2 NA18974.hp2 NA18986.hp2 NA19003.hp1 NA19076.hp2 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0014	a0001c0001 a0001c0011 a0001c0032 others(10): Show a0001c0001 a0001c0011 a0001c0032 a0001c0044 a0002c0002 a0003c0006 a0004c0007 a0004c0018 a0005c0005 a0006c0012 a0008c0010 a0010c0014 a0014c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0064 a0001c0001t0072 a0001c0011t0004 a0001c0011t0021 a0001c0032t0075 a0001c0044t0024 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0032 a0002c0002t0037 a0003c0006t0030 a0004c0007t0006 a0004c0018t0009 a0005c0005t0017 a0006c0012t0010 a0006c0012t0042 a0008c0010t0004 a0010c0014t0079 a0014c0017t0052 a0014c0017t0053	a0001c0001t0001g0122 a0001c0001t0005g0035 a0001c0001t0017g0118 others(25): Show a0001c0001t0001g0122 a0001c0001t0005g0035 a0001c0001t0017g0118 a0001c0001t0064g0111 a0001c0001t0072g0006 a0001c0011t0004g0041 a0001c0011t0021g0040 a0001c0032t0075g0069 a0001c0044t0024g0042 a0002c0002t0003g0048 a0002c0002t0008g0127 a0002c0002t0011g0121 a0002c0002t0013g0099 a0002c0002t0032g0103 a0002c0002t0037g0094 a0003c0006t0030g0045 a0004c0007t0006g0036 a0004c0007t0006g0050 a0004c0007t0006g0051 a0004c0018t0009g0056 a0004c0018t0009g0058 a0005c0005t0017g0012 a0006c0012t0010g0037 a0006c0012t0042g0052 a0008c0010t0004g0038 a0010c0014t0079g0053 a0014c0017t0052g0034 a0014c0017t0053g0043	28	134	0.2090	20	c.-80 others(41): Show c.-800-21409_-800-21408insAAGGAAGGAAGCAAGGCAGG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41749404	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00621.hp1 others(30): Show HG00140.hp1 HG00408.hp1 HG00621.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01433.hp2 HG02004.hp1 HG02109.hp2 HG02615.hp2 HG02647.hp2 HG02735.hp1 HG02895.hp2 HG02922.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 NA18522.hp2 NA18945.hp1 NA18946.hp1 NA18961.hp1 NA18986.hp1 NA18986.hp2 NA19003.hp2 NA19084.hp2 NA20129.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0014 a0017 a0026 a0029 a0030 a0031	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0007 a0005c0005 a0006c0012 a0008c0010 a0010c0014 a0014c0017 a0017c0025 a0026c0033 a0029c0041 a0030c0034 a0031c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0003t0002 a0001c0003t0034 a0001c0003t0036 a0001c0003t0038 a0001c0003t0044 a0001c0004t0012 a0001c0004t0081 a0001c0004t0084 a0002c0002t0002 a0002c0002t0003 a0002c0002t0023 a0002c0002t0029 a0002c0002t0032 a0002c0002t0062 a0004c0007t0006 a0004c0007t0009 a0005c0005t0001 a0005c0005t0020 a0006c0012t0042 a0008c0010t0047 a0008c0010t0049 a0010c0014t0079 a0014c0017t0053 a0017c0025t0069 a0026c0033t0011 a0029c0041t0027 a0030c0034t0011 a0031c0036t0048	a0001c0001t0001g0093 a0001c0001t0002g0011 a0001c0001t0005g0035 others(30): Show a0001c0001t0001g0093 a0001c0001t0002g0011 a0001c0001t0005g0035 a0001c0001t0018g0130 a0001c0003t0002g0031 a0001c0003t0002g0133 a0001c0003t0034g0107 a0001c0003t0036g0112 a0001c0003t0038g0097 a0001c0003t0044g0030 a0001c0004t0012g0108 a0001c0004t0081g0104 a0001c0004t0084g0105 a0002c0002t0002g0126 a0002c0002t0003g0048 a0002c0002t0023g0046 a0002c0002t0029g0059 a0002c0002t0032g0103 a0002c0002t0062g0014 a0004c0007t0006g0051 a0004c0007t0009g0085 a0005c0005t0001g0007 a0005c0005t0020g0001 a0006c0012t0042g0052 a0008c0010t0047g0027 a0008c0010t0049g0028 a0010c0014t0079g0053 a0014c0017t0053g0043 a0017c0025t0069g0025 a0026c0033t0011g0095 a0029c0041t0027g0005 a0030c0034t0011g0101 a0031c0036t0048g0119	33	134	0.2463	20	c.-80 others(41): Show c.-800-48429_-800-48410dupCACACACACACACACACACA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41757695	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03669.hp2 NA18906.hp2 HG00639.hp2 HG03669.hp2 NA18906.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0005 a0009c0009 a0001c0001 a0005c0005 a0009c0009	a0001c0001t0012 a0005c0005t0070 a0009c0009t0016 a0001c0001t0012 a0005c0005t0070 a0009c0009t0016	a0001c0001t0012g0010 a0005c0005t0070g0060 a0009c0009t0016g0079 a0001c0001t0012g0010 a0005c0005t0070g0060 a0009c0009t0016g0079	3	134	0.0224	20	c.-80 others(41): Show c.-800-56720_-800-56701dupAATAAATAAATAAATAAATA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HJV_chr1_146012470_146026735	146022534	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA19063.hp2 HG01256.hp1 HG01258.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	382	0.0079	20	c.-10 others(31): Show c.-1057_-1038dupGGAAGGAAGGAAGGAAGGAA	HJV	ENSG00000168509.20	transcript	ENST00000336751.11	protein_coding		800		chr1	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01517.hp1 HG00544.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0012	a0001c0001t0001g0141 a0001c0002t0012g0068 a0001c0001t0001g0141 a0001c0002t0012g0068	2	280	0.0071	20	c.-28 others(31): Show c.-2863_-2862insAAAAATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	280	0.0036	20	c.-28 others(31): Show c.-2863_-2862insAAATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276138	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	280	0.0036	20	c.-28 others(31): Show c.-2843_-2842insATATATATATATATATATAC	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2357		chr10	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG03490.hp1 HG02717.hp1 HG02895.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0023 a0001c0001 a0001c0006 a0002c0023	a0001c0001t0002 a0001c0006t0007 a0002c0023t0006 a0001c0001t0002 a0001c0006t0007 a0002c0023t0006	a0001c0001t0002g0237 a0001c0006t0007g0306 a0002c0023t0006g0370 a0001c0001t0002g0237 a0001c0006t0007g0306 a0002c0023t0006g0370	3	394	0.0076	20	c.183 others(37): Show c.1839+382_1839+383insTATATATATATATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HK2_chr2_74829127_74898359	74885845	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02135.hp2 NA19081.hp1 HG01257.hp2 HG02135.hp2 NA19081.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0023 a0002c0004t0026 a0002c0007t0035 a0002c0004t0023 a0002c0004t0026 a0002c0007t0035	a0002c0004t0023g0243 a0002c0004t0026g0366 a0002c0007t0035g0007 a0002c0004t0023g0243 a0002c0004t0026g0366 a0002c0007t0035g0007	3	394	0.0076	20	c.193 others(37): Show c.1935+278_1935+297dupCACACACACACACACACACA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-A_chr6_29937532_29950870	29949597	T T	TTATTTAT others(13): Show TTATTTATGCATGCATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0003 a0005c0005t0003g0003	1	418	0.0024	20	c.41 others(31): Show c.4142_*4143insTATTTATGCATGCATGTATG	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3728		chr6	TogoVar
HLA-A_chr6_29937532_29950870	29949597	T T	TTATTTAT others(13): Show TTATTTATGCATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01884.hp1 others(57): Show HG00735.hp1 HG00735.hp2 HG01884.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0003 a0005 a0022 a0003 a0005 a0022	a0003c0003 a0005c0005 a0022c0022 a0003c0003 a0005c0005 a0022c0022	a0003c0003t0003 a0005c0005t0003 a0022c0022t0003 a0003c0003t0003 a0005c0005t0003 a0022c0022t0003	a0003c0003t0003g0003 a0003c0003t0003g0033 a0005c0005t0003g0003 others(3): Show a0003c0003t0003g0003 a0003c0003t0003g0033 a0005c0005t0003g0003 a0005c0005t0003g0034 a0005c0005t0003g0035 a0022c0022t0003g0003	60	418	0.1435	20	c.41 others(31): Show c.4142_*4143insTATTTATGCATGTATGTATG	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding		3728		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32659104	C C	CACACACA others(13): Show CACACACACACACACAGCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 NA20905.hp2 HG00099.hp1 HG00597.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0046 a0002c0002t0002g0007 a0002c0002t0002g0046	3	402	0.0075	20	c.11 others(31): Show c.1131_*1132insCTTGCTGTGTGTGTGTGTGT	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding		362		chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32449677	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA19064.hp2 NA18987.hp2 NA19064.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0009	2	459	0.0044	20	c.50 others(31): Show c.5037_*5038insTTTTTTTTTTTTTTTTTTTT	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4632		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584011	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	208	0.0048	20	c.370 others(33): Show c.370+97_370+98insTGTGTGTGTGTGTGTGTGTG	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584017	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0008 a0018c0018t0008	a0018c0018t0008g0039 a0018c0018t0008g0039	1	208	0.0048	20	c.370 others(33): Show c.370+72_370+91dupTGTGTGTGTGTGTGTGTGTG	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584017	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19055.hp2 HG00280.hp2 NA19055.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0008 a0014c0015t0008	a0014c0015t0008g0028 a0014c0015t0008g0028	2	208	0.0096	20	c.370 others(33): Show c.370+91_370+92insTGTGTGTGTGTGTGTGTGAG	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-G_chr6_29822825_29836021	29823494	A A	AAAATTAA others(13): Show AAAATTAAATTAAATTAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01884.hp1 HG02109.hp1 others(7): Show HG00597.hp2 HG01884.hp1 HG02109.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG04199.hp1 HG06807.hp1 NA18955.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0009 a0008c0016 a0002c0002 a0002c0009 a0008c0016	a0002c0002t0001 a0002c0009t0001 a0008c0016t0001 a0002c0002t0001 a0002c0009t0001 a0008c0016t0001	a0002c0002t0001g0001 a0002c0009t0001g0001 a0008c0016t0001g0001 a0002c0002t0001g0001 a0002c0009t0001g0001 a0008c0016t0001g0001	10	479	0.0209	20	c.-43 others(31): Show c.-4351_-4350insAAATTAAATTAAATTAAATT	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		4330		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29835008	T T	TGGGCGCC others(13): Show TGGGCGCCTTCATGGTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(29): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00741.hp1 HG01099.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02735.hp2 HG03017.hp1 HG03654.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18954.hp2 NA18980.hp1 NA18983.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19058.hp2 NA19063.hp1 NA19068.hp2 NA19082.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0004 a0002c0002t0001 a0001c0004t0004 a0002c0002t0001	a0001c0004t0004g0004 a0002c0002t0001g0001 a0001c0004t0004g0004 a0002c0002t0001g0001	32	479	0.0668	20	c.42 others(31): Show c.4269_*4270insGGGCGCCTTCATGGTCTGTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		3988		chr6	TogoVar
HLCS_chr21_36743626_36971669	36823610	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01243.hp1 others(5): Show HG00741.hp2 HG01192.hp1 HG01243.hp1 HG02145.hp2 HG02896.hp1 HG02897.hp2 HG03490.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0030 a0001c0001t0032 a0001c0004t0017	a0001c0001t0002g0158 a0001c0001t0004g0015 a0001c0001t0010g0229 others(5): Show a0001c0001t0002g0158 a0001c0001t0004g0015 a0001c0001t0010g0229 a0001c0001t0014g0159 a0001c0001t0030g0048 a0001c0001t0032g0111 a0001c0004t0017g0219 a0001c0004t0017g0220	8	258	0.0310	20	c.189 others(41): Show c.1893-56345_1893-56326dupACACACACACACACACACAC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02280.hp2 others(3): Show HG00639.hp1 HG02145.hp1 HG02280.hp2 HG02976.hp1 HG03195.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0017 others(1): Show a0001c0001 a0001c0006 a0001c0017 a0002c0002	a0001c0001t0006 a0001c0006t0023 a0001c0017t0108 others(2): Show a0001c0001t0006 a0001c0006t0023 a0001c0017t0108 a0002c0002t0025 a0002c0002t0041	a0001c0001t0006g0132 a0001c0006t0023g0212 a0001c0006t0023g0222 others(3): Show a0001c0001t0006g0132 a0001c0006t0023g0212 a0001c0006t0023g0222 a0001c0017t0108g0082 a0002c0002t0025g0146 a0002c0002t0041g0148	6	258	0.0233	20	c.189 others(41): Show c.1892+28566_1892+28585dupTTTCTTTCTTTCTTTCTTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAGGAA others(13): Show GGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01109.hp2 others(9): Show HG00323.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01978.hp1 HG02257.hp1 HG03669.hp1 HG03831.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0050 a0001c0007t0007 a0001c0007t0012	a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0007g0194 others(9): Show a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0007g0194 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0003t0003g0199 a0001c0003t0007g0215 a0001c0003t0007g0221 a0001c0003t0012g0205 a0001c0003t0050g0206 a0001c0007t0007g0200 a0001c0007t0012g0207	12	258	0.0465	20	c.189 others(41): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCCTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLTF_chr3_149025127_149091533	149088736	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0038 a0005c0010t0007g0038	1	404	0.0025	20	c.-24 others(31): Show c.-2401_-2400insTGTGTGTGTGTGTGTGCGCG	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding		2204		chr3	TogoVar
HLTF_chr3_149025127_149091533	149088736	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0037 a0005c0010t0007g0037	1	404	0.0025	20	c.-24 others(31): Show c.-2401_-2400insTGTGTGTGTGTGTGCGCGCG	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding		2204		chr3	TogoVar
HLX_chr1_220874443_220890059	220874617	T T	TCAGAAGA others(13): Show TCAGAAGATCCCTTCCCATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	20	c.-52 others(31): Show c.-5241_-5240insCAGAAGATCCCTTCCCATGA	HLX	ENSG00000136630.13	transcript	ENST00000366903.8	protein_coding		4825		chr1	TogoVar
HMBOX1_chr8_28885395_29058262	28973803	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG00639.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0032 a0001c0001t0004g0033	2	344	0.0058	20	c.500 others(37): Show c.500+3296_500+3315dupTTTTTTTTTTTTTTTTTTTT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01069.hp1 others(14): Show HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG02451.hp1 HG02615.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 NA18947.hp2 NA18949.hp1 NA18960.hp2 NA18961.hp1 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0219 others(14): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0219 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0001g0317 a0001c0001t0002g0190 a0001c0001t0002g0244 a0001c0001t0003g0075 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0004g0062 a0001c0001t0015g0260 a0001c0001t0015g0274	17	344	0.0494	20	c.587 others(37): Show c.587-5514_587-5495dupATATATATATATATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	29003565	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	344	0.0029	20	c.587 others(37): Show c.587-5495_587-5494insATATATACATATATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMCN1_chr1_185729391_186195949	186020237	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0047 a0047	a0047c0014 a0047c0014	a0047c0014t0001 a0047c0014t0001	a0047c0014t0001g0055 a0047c0014t0001g0055	1	92	0.0109	20	c.562 others(37): Show c.5625+554_5625+573dupAGATAGATAGATAGATAGAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	35/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063067	C C	CGTATATA others(13): Show CGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0028 a0002c0007t0006g0028	1	92	0.0109	20	c.751 others(37): Show c.7513+467_7513+468insGTATATATATATATATATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106			chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063096	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0021 a0021	a0021c0057 a0021c0057	a0021c0057t0001 a0021c0057t0001	a0021c0057t0001g0019 a0021c0057t0001g0019	1	92	0.0109	20	c.751 others(37): Show c.7513+503_7513+504insATATATATATATGTATATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186110977	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG01891.hp2 others(5): Show HG01243.hp2 HG01261.hp2 HG01891.hp2 HG01978.hp1 HG02698.hp2 HG03017.hp1 HG03486.hp2 NA19030.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0013 a0036 a0037 a0043	a0001c0001 a0001c0035 a0002c0004 others(5): Show a0001c0001 a0001c0035 a0002c0004 a0006c0006 a0013c0011 a0036c0032 a0037c0038 a0043c0025	a0001c0001t0002 a0001c0035t0001 a0002c0004t0001 others(5): Show a0001c0001t0002 a0001c0035t0001 a0002c0004t0001 a0006c0006t0001 a0013c0011t0004 a0036c0032t0001 a0037c0038t0001 a0043c0025t0001	a0001c0001t0002g0090 a0001c0035t0001g0020 a0002c0004t0001g0050 others(5): Show a0001c0001t0002g0090 a0001c0035t0001g0020 a0002c0004t0001g0050 a0006c0006t0001g0049 a0013c0011t0004g0058 a0036c0032t0001g0064 a0037c0038t0001g0038 a0043c0025t0001g0007	8	92	0.0870	20	c.109 others(41): Show c.10990-1833_10990-1814dupTTTTTTTTTTTTTTTTTTTT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	71/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130293279	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03098.hp1 HG03516.hp2 HG01167.hp1 HG03098.hp1 HG03516.hp2	a0124 a0128 a0158 a0124 a0128 a0158	a0124c0169 a0128c0165 a0158c0210 a0124c0169 a0128c0165 a0158c0210	a0124c0169t0002 a0128c0165t0002 a0158c0210t0002 a0124c0169t0002 a0128c0165t0002 a0158c0210t0002	a0124c0169t0002g0216 a0128c0165t0002g0220 a0158c0210t0002g0208 a0124c0169t0002g0216 a0128c0165t0002g0220 a0158c0210t0002g0208	3	258	0.0116	20	c.613 others(37): Show c.613-1574_613-1555dupTTTTTTTTTTTTTTTTTTTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	4/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCCCTCC others(13): Show GTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG01071.hp1 others(10): Show HG00544.hp1 HG00741.hp1 HG01071.hp1 HG01257.hp2 HG01975.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG04199.hp2	a0008 a0010 a0014 others(9): Show a0008 a0010 a0014 a0022 a0028 a0032 a0072 a0095 a0122 a0134 a0162 a0172	a0008c0007 a0010c0020 a0014c0040 others(9): Show a0008c0007 a0010c0020 a0014c0040 a0022c0018 a0028c0141 a0032c0026 a0072c0074 a0095c0217 a0122c0131 a0134c0151 a0162c0181 a0172c0204	a0008c0007t0001 a0010c0020t0001 a0014c0040t0001 others(9): Show a0008c0007t0001 a0010c0020t0001 a0014c0040t0001 a0022c0018t0001 a0028c0141t0002 a0032c0026t0002 a0072c0074t0001 a0095c0217t0001 a0122c0131t0002 a0134c0151t0002 a0162c0181t0002 a0172c0204t0002	a0008c0007t0001g0119 a0010c0020t0001g0096 a0014c0040t0001g0066 others(10): Show a0008c0007t0001g0119 a0010c0020t0001g0096 a0014c0040t0001g0066 a0022c0018t0001g0023 a0022c0018t0001g0038 a0028c0141t0002g0230 a0032c0026t0002g0164 a0072c0074t0001g0013 a0095c0217t0001g0258 a0122c0131t0002g0200 a0134c0151t0002g0203 a0162c0181t0002g0162 a0172c0204t0002g0231	13	258	0.0504	20	c.235 others(39): Show c.2350+2460_2350+2479dupCTCCCTCCCTCCCTCCCTCC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(13): Show GTCTCTCTCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01993.hp1 HG02976.hp2 others(2): Show HG01175.hp1 HG01993.hp1 HG02976.hp2 HG03041.hp2 NA20905.hp2	a0019 a0020 a0023 others(2): Show a0019 a0020 a0023 a0030 a0118	a0019c0010 a0020c0014 a0023c0126 others(2): Show a0019c0010 a0020c0014 a0023c0126 a0030c0028 a0118c0124	a0019c0010t0001 a0020c0014t0001 a0023c0126t0001 others(2): Show a0019c0010t0001 a0020c0014t0001 a0023c0126t0001 a0030c0028t0002 a0118c0124t0001	a0019c0010t0001g0132 a0020c0014t0001g0107 a0023c0126t0001g0098 others(2): Show a0019c0010t0001g0132 a0020c0014t0001g0107 a0023c0126t0001g0098 a0030c0028t0002g0248 a0118c0124t0001g0022	5	258	0.0194	20	c.235 others(39): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp2 HG03927.hp1 HG00738.hp1 HG01952.hp2 HG03927.hp1	a0003 a0005 a0081 a0003 a0005 a0081	a0003c0072 a0005c0011 a0081c0071 a0003c0072 a0005c0011 a0081c0071	a0003c0072t0001 a0005c0011t0001 a0081c0071t0001 a0003c0072t0001 a0005c0011t0001 a0081c0071t0001	a0003c0072t0001g0092 a0005c0011t0001g0131 a0081c0071t0001g0062 a0003c0072t0001g0092 a0005c0011t0001g0131 a0081c0071t0001g0062	3	258	0.0116	20	c.235 others(39): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar

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