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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OSTF1_chr9_75083514_75152265	75128363	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp1 NA19043.hp2 HG02258.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0081 a0001c0001t0013g0082 a0001c0001t0013g0084 a0001c0001t0013g0081 a0001c0001t0013g0082 a0001c0001t0013g0084	3	366	0.0082	-22	c.132 others(37): Show c.132+767_132+788delATATATATATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75132962	TACACACA others(15): Show TACACACACATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01167.hp2 others(7): Show HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02738.hp1 HG03017.hp1 HG03831.hp1 HG04115.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012	a0001c0001t0004g0002 a0001c0001t0004g0152 a0001c0001t0004g0156 others(6): Show a0001c0001t0004g0002 a0001c0001t0004g0152 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0009g0159 a0001c0001t0012g0019	10	366	0.0273	-22	c.251 others(37): Show c.251-322_251-301delTACACACACACACACACACACA	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75132972	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00558.hp1 others(62): Show HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00639.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp1 HG02083.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18983.hp1 NA18991.hp1 NA18992.hp1 NA19002.hp2 NA19006.hp2 NA19062.hp1 NA19077.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0003t0003	a0001c0001t0004g0172 a0001c0001t0005g0008 a0001c0001t0005g0267 others(62): Show a0001c0001t0004g0172 a0001c0001t0005g0008 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0276 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0010g0266 a0001c0001t0010g0271 a0001c0001t0010g0290 a0001c0001t0010g0329 a0001c0001t0018g0085 a0001c0001t0018g0086 a0001c0001t0021g0286 a0001c0001t0024g0147 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0171 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0236 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0294 a0001c0002t0006g0256 a0001c0002t0008g0244 a0001c0002t0008g0261 a0001c0002t0008g0263 a0001c0002t0008g0292 a0001c0002t0008g0293 a0001c0003t0003g0241	65	366	0.1776	-22	c.251 others(37): Show c.251-303_251-282delACACACACACACACACACACAC	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTC_chrX_38347604_38426446	38404690	GAAGTACT others(15): Show GAAGTACTGCCAAGGGAGATCCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02080.hp1 HG02145.hp1 others(18): Show HG01255.hp1 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02896.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0132 a0001c0001t0001g0251 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0002c0002t0001g0011 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0059 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0073 a0003c0005t0001g0137	21	308	0.0682	-22	c.663 others(37): Show c.663+951_663+972delAAGTACTGCCAAGGGAGATCCC	OTC	ENSG00000036473.8	transcript	ENST00000039007.5	protein_coding	6/9			chrX	TogoVar
OTOGL_chr12_80094537_80385880	80170197	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02717.hp1 others(1): Show HG02572.hp1 HG02630.hp2 HG02717.hp1 NA19043.hp2	a0008 a0019 a0020 a0008 a0019 a0020	a0008c0007 a0019c0027 a0020c0028 a0008c0007 a0019c0027 a0020c0028	a0008c0007t0002 a0008c0007t0018 a0019c0027t0020 others(1): Show a0008c0007t0002 a0008c0007t0018 a0019c0027t0020 a0020c0028t0004	a0008c0007t0002g0009 a0008c0007t0018g0150 a0019c0027t0020g0008 others(1): Show a0008c0007t0002g0009 a0008c0007t0018g0150 a0019c0027t0020g0008 a0020c0028t0004g0002	4	168	0.0238	-22	c.-19 others(41): Show c.-19-39202_-19-39181delGTGTATGTATGTGTGTGTGTGT	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOG_chr11_17542259_17651044	17613239	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02630.hp2 others(4): Show HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1	a0015 a0019 a0025 others(2): Show a0015 a0019 a0025 a0051 a0112	a0015c0012 a0019c0024 a0025c0134 others(2): Show a0015c0012 a0019c0024 a0025c0134 a0051c0152 a0112c0100	a0015c0012t0001 a0019c0024t0002 a0025c0134t0002 others(2): Show a0015c0012t0001 a0019c0024t0002 a0025c0134t0002 a0051c0152t0002 a0112c0100t0001	a0015c0012t0001g0134 a0015c0012t0001g0135 a0019c0024t0002g0178 others(4): Show a0015c0012t0001g0134 a0015c0012t0001g0135 a0019c0024t0002g0178 a0019c0024t0002g0179 a0025c0134t0002g0027 a0051c0152t0002g0124 a0112c0100t0001g0064	7	268	0.0261	-22	c.643 others(39): Show c.6439-371_6439-350delTTCTTTCTTTCTTTCTTTCTTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD4_chr4_145128650_145185589	145179077	AATTCAGA others(15): Show AATTCAGAAAAATCTTCCTGAGC	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0310 a0001c0001t0104g0310	1	346	0.0029	-22	c.159 others(37): Show c.159+716_159+737delGCTCAGGAAGATTTTTCTGAAT	OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding	1/20			chr4	TogoVar
OTUD4_chr4_145128650_145185589	145179617	CTTTCGAG others(15): Show CTTTCGAGTTTCAATTTGCACCT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0309 a0001c0001t0037g0309	1	346	0.0029	-22	c.159 others(37): Show c.159+176_159+197delAGGTGCAAATTGAAACTCGAAA	OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding	1/20			chr4	TogoVar
OTULIN_chr5_14659718_14704850	14703324	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01891.hp1 HG02647.hp1 others(4): Show HG01358.hp1 HG01891.hp1 HG02647.hp1 HG02818.hp1 HG03195.hp2 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0019 a0001c0001t0011 a0001c0005t0019	a0001c0001t0011g0035 a0001c0001t0011g0122 a0001c0001t0011g0123 others(2): Show a0001c0001t0011g0035 a0001c0001t0011g0122 a0001c0001t0011g0123 a0001c0005t0019g0024 a0001c0005t0019g0047	7	354	0.0198	-22	c.10 others(35): Show c.10277_*10298delAAAAAAAAAAAAAAAAAAAAAA	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding		3475		chr5	TogoVar
OVCH1_chr12_29434853_29502686	29476786	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0050 a0015c0013t0001g0050	1	400	0.0025	-22	c.148 others(39): Show c.1482+294_1482+315delCTGTGTGTGTGTGTGTGTGTGT	OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	12/25			chr12	TogoVar
OVCH1_chr12_29434853_29502686	29485959	AAAATAAA others(15): Show AAAATAAAATAAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG01891.hp1 others(8): Show HG00735.hp2 HG01433.hp1 HG01891.hp1 HG02258.hp1 HG02300.hp1 HG02615.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2	a0008 a0014 a0020 others(2): Show a0008 a0014 a0020 a0021 a0022	a0008c0008 a0014c0037 a0020c0063 others(2): Show a0008c0008 a0014c0037 a0020c0063 a0021c0062 a0022c0026	a0008c0008t0001 a0014c0037t0001 a0020c0063t0002 others(2): Show a0008c0008t0001 a0014c0037t0001 a0020c0063t0002 a0021c0062t0001 a0022c0026t0001	a0008c0008t0001g0169 a0008c0008t0001g0170 a0008c0008t0001g0171 others(6): Show a0008c0008t0001g0169 a0008c0008t0001g0170 a0008c0008t0001g0171 a0008c0008t0001g0173 a0014c0037t0001g0167 a0014c0037t0001g0168 a0020c0063t0002g0068 a0021c0062t0001g0069 a0022c0026t0001g0002	11	400	0.0275	-22	c.991 others(37): Show c.991+269_991+290delATTTATTTATTTTATTTTATTT	OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	8/25			chr12	TogoVar
OVGP1_chr1_111409319_111432735	111427809	TACACACA others(15): Show TACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0018 a0019 a0018 a0019	a0018c0023 a0019c0032 a0018c0023 a0019c0032	a0018c0023t0001 a0019c0032t0001 a0018c0023t0001 a0019c0032t0001	a0018c0023t0001g0091 a0019c0032t0001g0073 a0018c0023t0001g0091 a0019c0032t0001g0073	2	424	0.0047	-22	c.-11 others(30): Show c.-110_-89delGTGTGTGTGTGTGTGTGTGTGT	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding		75		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111428789	AATATATA others(15): Show AATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	424	0.0024	-22	c.-10 others(33): Show c.-1090_-1069delATATATATATATATATATATAT	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding		1055		chr1	TogoVar
OXR1_chr8_106265190_106757694	106339509	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp2 HG01109.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0037 a0001c0001t0001g0075	2	172	0.0116	-22	c.-13 others(43): Show c.-138-19965_-138-19944delAAAAAAAAAATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106339515	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	172	0.0058	-22	c.-13 others(43): Show c.-138-19959_-138-19938delAAAATATATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106405141	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG01496.hp2 others(6): Show HG01109.hp2 HG01255.hp1 HG01496.hp2 HG01978.hp1 HG02135.hp1 HG02300.hp1 HG03017.hp1 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0135 a0001c0001t0003g0142 a0001c0001t0010g0018 others(6): Show a0001c0001t0001g0135 a0001c0001t0003g0142 a0001c0001t0010g0018 a0001c0002t0001g0034 a0001c0002t0001g0103 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0124 a0001c0002t0001g0172	9	172	0.0523	-22	c.23+ others(39): Show c.23+45545_23+45566delTATATATATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106739075	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0058 a0005c0009t0001g0058	1	172	0.0058	-22	c.203 others(39): Show c.2038-359_2038-338delCACACACACACACACACACACA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSM_chr3_25785090_25799531	25790037	AGCGCATG others(15): Show AGCGCATGAGCGTACGTGCGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	382	0.0026	-22	c.-14 others(31): Show c.-141_-120delGCGCATGAGCGTACGTGCGAGC	OXSM	ENSG00000151093.8	transcript	ENST00000280701.8	protein_coding		52		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38161590	TATGTATA others(15): Show TATGTATATTTCATATACATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01071.hp2 others(14): Show HG00544.hp2 HG00621.hp2 HG01071.hp2 HG01106.hp2 HG01255.hp2 HG01256.hp1 HG02165.hp1 HG03492.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18985.hp1 NA19005.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0111 others(14): Show a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0003g0195 a0001c0001t0004g0050 a0001c0001t0010g0166 a0001c0001t0014g0156 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0013	17	248	0.0686	-22	c.-42 others(33): Show c.-4286_-4265delATGTATATTTCATATACATATG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3946		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38184903	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02630.hp1 others(4): Show HG02257.hp2 HG02572.hp2 HG02630.hp1 HG02965.hp1 HG03130.hp2 HG03471.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0015 others(1): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0015 a0002c0002t0017	a0002c0002t0001g0119 a0002c0002t0001g0198 a0002c0002t0007g0040 others(4): Show a0002c0002t0001g0119 a0002c0002t0001g0198 a0002c0002t0007g0040 a0002c0002t0007g0179 a0002c0002t0007g0180 a0002c0002t0015g0010 a0002c0002t0017g0199	7	248	0.0282	-22	c.183 others(39): Show c.183+1815_183+1836delTTTTTTTTTTTTTTTTTTTTTT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
P2RX6_chr22_21010165_21033008	21014087	TCTAGGTC others(15): Show TCTAGGTCGGAGTCTGAATCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02647.hp1 others(3): Show HG02145.hp1 HG02257.hp1 HG02647.hp1 HG03471.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0014t0001	a0001c0001t0007g0079 a0001c0002t0001g0081 a0001c0002t0003g0039 others(2): Show a0001c0001t0007g0079 a0001c0002t0001g0081 a0001c0002t0003g0039 a0001c0002t0003g0080 a0001c0014t0001g0078	6	460	0.0130	-22	c.-10 others(33): Show c.-1087_-1066delCTAGGTCGGAGTCTGAATCGGC	P2RX6	ENSG00000099957.17	transcript	ENST00000413302.7	protein_coding		1077		chr22	TogoVar
P2RX7_chr12_121127876_121193032	121172102	CTGCCTGC others(15): Show CTGCCTGCCTCGGCCTCCCAAAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp1 others(96): Show HG00099.hp2 HG00280.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19057.hp2 NA19066.hp1 NA19086.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0004 a0005 a0009 others(11): Show a0004 a0005 a0009 a0010 a0012 a0013 a0015 a0018 a0022 a0024 a0026 a0029 a0030 a0035	a0004c0003 a0005c0017 a0009c0009 others(14): Show a0004c0003 a0005c0017 a0009c0009 a0010c0010 a0012c0013 a0012c0042 a0013c0018 a0013c0019 a0015c0012 a0018c0026 a0018c0034 a0022c0025 a0024c0027 a0026c0030 a0029c0037 a0030c0031 a0035c0045	a0004c0003t0004 a0004c0003t0007 a0004c0003t0008 others(29): Show a0004c0003t0004 a0004c0003t0007 a0004c0003t0008 a0004c0003t0010 a0004c0003t0011 a0004c0003t0012 a0004c0003t0027 a0004c0003t0031 a0004c0003t0032 a0005c0017t0005 a0009c0009t0006 a0010c0010t0006 a0010c0010t0011 a0010c0010t0025 a0012c0013t0005 a0012c0042t0005 a0013c0018t0004 a0013c0019t0004 a0015c0012t0004 a0015c0012t0006 a0015c0012t0007 a0015c0012t0012 a0015c0012t0014 a0015c0012t0019 a0018c0026t0016 a0018c0034t0005 a0022c0025t0015 a0024c0027t0021 a0026c0030t0006 a0029c0037t0001 a0030c0031t0002 a0035c0045t0022	a0004c0003t0004g0206 a0004c0003t0004g0219 a0004c0003t0004g0220 others(96): Show a0004c0003t0004g0206 a0004c0003t0004g0219 a0004c0003t0004g0220 a0004c0003t0004g0221 a0004c0003t0004g0222 a0004c0003t0004g0223 a0004c0003t0004g0226 a0004c0003t0004g0229 a0004c0003t0004g0230 a0004c0003t0004g0231 a0004c0003t0004g0232 a0004c0003t0004g0233 a0004c0003t0004g0234 a0004c0003t0004g0236 a0004c0003t0004g0240 a0004c0003t0004g0356 a0004c0003t0007g0248 a0004c0003t0007g0249 a0004c0003t0007g0250 a0004c0003t0007g0251 a0004c0003t0007g0257 a0004c0003t0007g0354 a0004c0003t0008g0238 a0004c0003t0008g0239 a0004c0003t0008g0241 a0004c0003t0008g0242 a0004c0003t0008g0246 a0004c0003t0010g0299 a0004c0003t0010g0300 a0004c0003t0010g0301 a0004c0003t0010g0328 a0004c0003t0011g0133 a0004c0003t0012g0199 a0004c0003t0012g0201 a0004c0003t0012g0205 a0004c0003t0027g0309 a0004c0003t0031g0203 a0004c0003t0032g0200 a0005c0017t0005g0214 a0005c0017t0005g0215 a0005c0017t0005g0216 a0005c0017t0005g0290 a0009c0009t0006g0266 a0009c0009t0006g0267 a0009c0009t0006g0268 a0009c0009t0006g0269 a0009c0009t0006g0270 a0009c0009t0006g0271 a0009c0009t0006g0272 a0009c0009t0006g0273 a0009c0009t0006g0274 a0009c0009t0006g0275 a0009c0009t0006g0276 a0009c0009t0006g0277 a0010c0010t0006g0260 a0010c0010t0006g0261 a0010c0010t0006g0262 a0010c0010t0006g0263 a0010c0010t0006g0264 a0010c0010t0006g0265 a0010c0010t0011g0278 a0010c0010t0011g0279 a0010c0010t0011g0280 a0010c0010t0025g0281 a0012c0013t0005g0006 a0012c0013t0005g0009 a0012c0013t0005g0020 a0012c0013t0005g0087 a0012c0013t0005g0107 a0012c0013t0005g0146 a0012c0013t0005g0147 a0012c0013t0005g0235 a0012c0042t0005g0176 a0013c0018t0004g0028 a0013c0018t0004g0029 a0013c0018t0004g0175 a0013c0018t0004g0188 a0013c0019t0004g0190 a0013c0019t0004g0191 a0013c0019t0004g0353 a0013c0019t0004g0355 a0015c0012t0004g0152 a0015c0012t0006g0154 a0015c0012t0007g0085 a0015c0012t0007g0349 a0015c0012t0012g0105 a0015c0012t0014g0031 a0015c0012t0014g0053 a0015c0012t0019g0350 a0018c0026t0016g0080 a0018c0026t0016g0081 a0018c0034t0005g0258 a0022c0025t0015g0195 a0022c0025t0015g0204 a0024c0027t0021g0197 a0026c0030t0006g0259 a0029c0037t0001g0306 a0030c0031t0002g0202 a0035c0045t0022g0287	99	366	0.2705	-22	c.882 others(39): Show c.882-3282_882-3261delCTGCCTCGGCCTCCCAAAGTGC	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY10_chrX_78940391_78968727	78965778	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	322	0.0031	-22	c.42 others(33): Show c.4239_*4260delTTTCTTTCTTTCTTTCTTTCTT	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2052		chrX	TogoVar
P2RY10_chrX_78940391_78968727	78965811	TTTTCTTT others(15): Show TTTTCTTTCTTTTCTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0079 a0001c0001t0029g0079	1	322	0.0031	-22	c.42 others(33): Show c.4272_*4293delTTTCTTTCTTTTCTTTCTTTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2085		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1481558	TTTAGGAG others(15): Show TTTAGGAGAGTCCAGCTTTGGGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01070.hp2 others(28): Show HG00639.hp1 HG00733.hp1 HG01070.hp2 HG01175.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0013 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0003t0003 a0001c0003t0005 a0001c0003t0011 a0001c0003t0012 a0001c0004t0009 a0001c0004t0010 a0001c0004t0020 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0027 a0003c0013t0001 a0006c0008t0005	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0043 others(28): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0002g0060 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0006g0018 a0001c0001t0006g0029 a0001c0001t0024g0070 a0001c0001t0029g0054 a0001c0001t0030g0013 a0001c0003t0003g0030 a0001c0003t0003g0068 a0001c0003t0005g0031 a0001c0003t0011g0002 a0001c0003t0012g0001 a0001c0004t0009g0032 a0001c0004t0010g0049 a0001c0004t0010g0111 a0001c0004t0020g0017 a0002c0002t0001g0028 a0002c0002t0004g0008 a0002c0002t0004g0035 a0002c0002t0006g0067 a0002c0002t0009g0006 a0002c0002t0027g0100 a0003c0013t0001g0108 a0006c0008t0005g0051	31	114	0.2719	-22	c.-24 others(41): Show c.-24-14998_-24-14977delTCCCAAAGCTGGACTCTCCTAA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189959858	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	304	0.0033	-22	c.203 others(41): Show c.2035-1876_2035-1855delCACACACACACACACACACATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	14/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041035	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0015 a0001c0009t0007 a0001c0001t0015 a0001c0009t0007	a0001c0001t0015g0010 a0001c0009t0007g0085 a0001c0001t0015g0010 a0001c0009t0007g0085	2	304	0.0066	-22	c.481 others(41): Show c.481-45615_481-45594delGTGTGTGTGTGTGTGTGTGTAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041037	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02572.hp2 others(4): Show HG01891.hp2 HG02280.hp2 HG02572.hp2 HG02717.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0002t0002	a0001c0001t0001g0097 a0001c0001t0003g0099 a0001c0001t0010g0285 others(4): Show a0001c0001t0001g0097 a0001c0001t0003g0099 a0001c0001t0010g0285 a0001c0001t0011g0077 a0001c0001t0017g0003 a0001c0001t0017g0021 a0001c0002t0002g0065	7	304	0.0230	-22	c.481 others(41): Show c.481-45617_481-45596delGTGTGTGTGTGTGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190095303	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0176 a0001c0002t0003g0176	1	304	0.0033	-22	c.480 others(41): Show c.480+24927_480+24948delATATATATATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA1_chr10_73002217_73101866	73028307	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02630.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0231 a0001c0001t0003g0123 a0001c0001t0003g0231	2	234	0.0086	-22	c.124 others(41): Show c.1248+1942_1248+1963delGTGTGTGTGTGTGTGTGTGTGT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	10/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73059418	TATATTTA others(15): Show TATATTTAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 NA18906.hp2 HG01884.hp1 HG02451.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094	3	234	0.0128	-22	c.464 others(39): Show c.464-5850_464-5829delTTTTTTTTTTTTTTTTAAATAT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	5/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093867	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	234	0.0043	-22	c.-33 others(39): Show c.-33+2877_-33+2898delATATATATATATATATTTTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093869	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	234	0.0043	-22	c.-33 others(39): Show c.-33+2875_-33+2896delATATATATATATATATATTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093871	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	234	0.0043	-22	c.-33 others(39): Show c.-33+2873_-33+2894delATATATATATATATATATATTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
PACRG_chr6_162722974_163320500	162958870	TATATATA others(15): Show TATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	130	0.0077	-22	c.292 others(43): Show c.292-103278_292-103257delTATATATATATATAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958876	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	130	0.0077	-22	c.292 others(43): Show c.292-103272_292-103251delTATATATAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958878	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG06807.hp2 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0003g0018 a0001c0001t0001g0019 a0001c0001t0003g0018	2	130	0.0154	-22	c.292 others(43): Show c.292-103270_292-103249delTATATAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958882	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	130	0.0077	-22	c.292 others(43): Show c.292-103266_292-103245delTAGAGAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319487	CATATATA others(15): Show CATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG03453.hp2 others(2): Show HG02572.hp2 HG02647.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0002g0050 a0001c0001t0003g0091 a0001c0001t0003g0102 others(2): Show a0001c0001t0002g0050 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0013g0013	5	130	0.0385	-22	c.45 others(33): Show c.4501_*4522delATATATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		3988		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319525	TATATATA others(15): Show TATATATATATATACATAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	130	0.0077	-22	c.45 others(33): Show c.4539_*4560delATATATATATATACATAGAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4026		chr6	TogoVar
PACS1_chr11_66065272_66249744	66156204	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00735.hp2 others(38): Show HG00140.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02074.hp1 HG02132.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18954.hp2 NA18968.hp2 NA18969.hp2 NA18979.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19007.hp2 NA19060.hp2 NA19082.hp2 NA19088.hp2 NA20300.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0004c0006 others(3): Show a0001c0001 a0001c0003 a0004c0006 a0005c0012 a0007c0010 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0001 a0004c0006t0001 a0005c0012t0001 a0007c0010t0001 a0008c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0080 others(38): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0202 a0001c0001t0011g0088 a0001c0003t0001g0081 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0310 a0004c0006t0001g0174 a0005c0012t0001g0196 a0007c0010t0001g0154 a0008c0005t0001g0197	41	322	0.1273	-22	c.357 others(41): Show c.357-37253_357-37232delTATATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(15): Show CTTTCTTTTCTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02083.hp2 HG02886.hp1 others(11): Show HG00621.hp1 HG02083.hp2 HG02886.hp1 HG02886.hp2 HG03516.hp2 NA18948.hp1 NA18960.hp1 NA18970.hp1 NA19004.hp2 NA19009.hp2 NA19063.hp2 NA19075.hp1 NA19076.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0004	14	368	0.0380	-22	c.-22 others(33): Show c.-2230_-2209delAAAAAAAAAAAAAGAAAAGAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1967		chr19	TogoVar
PAFAH1B1_chr17_2588654_2690615	2688459	CCGATCTG others(15): Show CCGATCTGTTCTCAGCTTCACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	280	0.0036	-22	c.66 others(33): Show c.6658_*6679delCGATCTGTTCTCAGCTTCACAG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding		2845		chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172348	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02258.hp1 HG00280.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0008 a0001c0001t0008g0137 a0001c0001t0006g0008 a0001c0001t0008g0137	2	432	0.0046	-22	c.46 others(33): Show c.4650_*4671delTATATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1304		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172384	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	432	0.0023	-22	c.46 others(33): Show c.4686_*4707delTATATATATATATATATATATT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1340		chr11	TogoVar
PAFAH2_chr1_25954767_26003063	25955979	CTAGCCAC others(15): Show CTAGCCACCATGTTAAGTGCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	310	0.0032	-22	c.59 others(33): Show c.5988_*6009delAAAGCACTTAACATGGTGGCTA	PAFAH2	ENSG00000158006.14	transcript	ENST00000374282.8	protein_coding		3787		chr1	TogoVar
PAG1_chr8_80962810_81117068	81108529	TCTGTGAT others(15): Show TCTGTGATTTAAATTAAATCAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00735.hp2 others(17): Show HG00280.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01255.hp1 HG01433.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02922.hp1 HG02970.hp1 HG03239.hp2 HG03669.hp2 HG04228.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0045 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0026 a0001c0002t0037 a0001c0002t0060 a0001c0003t0008 a0001c0003t0013 a0001c0004t0008 a0001c0004t0069	a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 others(17): Show a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0007g0069 a0001c0001t0007g0073 a0001c0001t0015g0066 a0001c0001t0045g0067 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0003g0057 a0001c0002t0010g0064 a0001c0002t0026g0060 a0001c0002t0037g0004 a0001c0002t0060g0061 a0001c0003t0008g0074 a0001c0003t0013g0059 a0001c0004t0008g0056 a0001c0004t0008g0058 a0001c0004t0069g0071	20	256	0.0781	-22	c.-23 others(41): Show c.-234+3040_-234+3061delTCTGATTTAATTTAAATCACAG	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	1/8			chr8	TogoVar
PAGE1_chrX_49682447_49700984	49689565	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	2	322	0.0062	-22	c.293 others(35): Show c.293-44_293-23delATATATATATATTTTTTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689571	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	322	0.0031	-22	c.293 others(35): Show c.293-50_293-29delATATATATATATATATATTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689573	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	322	0.0031	-22	c.293 others(35): Show c.293-52_293-31delATATATATATATATATATATTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar

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