Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
OTUD7A_chr15_31470398_31875673	31510951	TATATGTA others(14): Show TATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18906.hp1 HG01496.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0083 a0001c0001t0066 a0001c0001t0083	a0001c0001t0066g0018 a0001c0001t0083g0017 a0001c0001t0066g0018 a0001c0001t0083g0017	2	244	0.0082	-21	c.894 others(38): Show c.894-7154_894-7134delGTTACATATAGATATACATAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511097	TGTATATC others(14): Show TGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0098 a0002c0003t0008g0098	1	244	0.0041	-21	c.894 others(38): Show c.894-7300_894-7280delGTATGTTACATATAGATATAC		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511172	TGTATATC others(14): Show TGTATATCTATATGTAACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0020 a0001c0001t0080g0020	1	244	0.0041	-21	c.894 others(38): Show c.894-7375_894-7355delGTGTGTTACATATAGATATAC		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31659060	TAAATAAA others(14): Show TAAATAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01891.hp1 others(5): Show HG01243.hp1 HG01884.hp1 HG01891.hp1 HG02647.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0011 others(1): Show a0001c0002 a0001c0009 a0001c0011 a0001c0018	a0001c0002t0033 a0001c0002t0034 a0001c0002t0095 others(3): Show a0001c0002t0033 a0001c0002t0034 a0001c0002t0095 a0001c0009t0019 a0001c0011t0098 a0001c0018t0089	a0001c0002t0033g0206 a0001c0002t0034g0016 a0001c0002t0034g0102 others(5): Show a0001c0002t0033g0206 a0001c0002t0034g0016 a0001c0002t0034g0102 a0001c0002t0095g0073 a0001c0009t0019g0074 a0001c0009t0019g0075 a0001c0011t0098g0207 a0001c0018t0089g0205	8	244	0.0328	-21	c.-99 others(38): Show c.-99-2004_-99-1984delTATTTATTTATTTATTTATTT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753702	TTATATAT others(14): Show TTATATATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(11): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02559.hp2 HG02647.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(3): Show a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0018	a0001c0002t0031 a0001c0002t0034 a0001c0002t0081 others(9): Show a0001c0002t0031 a0001c0002t0034 a0001c0002t0081 a0001c0002t0085 a0001c0002t0095 a0001c0002t0096 a0001c0004t0086 a0001c0006t0018 a0001c0006t0035 a0001c0009t0019 a0001c0011t0098 a0001c0018t0089	a0001c0002t0031g0228 a0001c0002t0034g0016 a0001c0002t0034g0102 others(11): Show a0001c0002t0031g0228 a0001c0002t0034g0016 a0001c0002t0034g0102 a0001c0002t0081g0167 a0001c0002t0085g0212 a0001c0002t0095g0073 a0001c0002t0096g0229 a0001c0004t0086g0230 a0001c0006t0018g0215 a0001c0006t0035g0001 a0001c0009t0019g0074 a0001c0009t0019g0075 a0001c0011t0098g0207 a0001c0018t0089g0205	14	244	0.0574	-21	c.-99 others(40): Show c.-99-96646_-99-96626delTAATATATATATATATATATA		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12						chr15	TogoVar
OTULIN_chr5_14659718_14704850	14664886	CCGGCGCG others(14): Show CCGGCGCGGGAGGCGGCGGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG02615.hp2 HG02647.hp2 others(12): Show HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0025 a0002c0002t0035 a0002c0002t0003 a0002c0002t0025 a0002c0002t0035	a0002c0002t0003g0007 a0002c0002t0003g0075 a0002c0002t0003g0076 others(3): Show a0002c0002t0003g0007 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0025g0006 a0002c0002t0035g0118	15	354	0.0424	-21	c.72_ others(26): Show c.72_92delGGCGGCGGCCACGGCGCGGGA	p.Glu others(11): Show p.Glu24_Arg30del	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding	1/7	180/7969	72/1059	24/352		INFO_REALIGN_3_PRIME	chr5	TogoVar
OTULIN_chr5_14659718_14704850	14703324	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG02257.hp2 others(4): Show HG00558.hp2 HG01074.hp2 HG02257.hp2 HG02258.hp1 HG02976.hp2 HG03540.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0044 a0001c0001t0001 a0001c0001t0024 a0001c0001t0044	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0001t0024g0023 a0001c0001t0044g0023	7	354	0.0198	-21	c.10 others(34): Show c.10277_*10297delAAAAAAAAAAAAAAAAAAAAA		OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding					3475		chr5	TogoVar
OVCH1_chr12_29434853_29502686	29485964	AAAATAAA others(14): Show AAAATAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0360 a0010c0010t0001g0360	1	400	0.0025	-21	c.991 others(36): Show c.991+265_991+285delATTTATTTATTTATTTTATTT		OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	8/25						chr12	TogoVar
OVOL2_chr20_18019163_18062916	18039932	TTTTTCCC others(14): Show TTTTTCCCCTTGAGACCGGGTC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	386	0.0026	-21	c.511 others(38): Show c.511+1581_511+1601delGACCCGGTCTCAAGGGGAAAA		OVOL2	ENSG00000125850.11	transcript	ENST00000278780.7	protein_coding	3/3						chr20	TogoVar
OXNAD1_chr3_16260212_16311087	16268313	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02145.hp2 others(17): Show HG01081.hp2 HG02055.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0204 a0001c0001t0003g0017 a0001c0001t0003g0030 others(13): Show a0001c0001t0002g0204 a0001c0001t0003g0017 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0144 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0217 a0001c0001t0003g0218	20	384	0.0521	-21	c.-15 others(38): Show c.-158-800_-158-780delTTTTTTTTTTTTTTTTTTTTT		OXNAD1	ENSG00000154814.14	transcript	ENST00000285083.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
OXR1_chr8_106265190_106757694	106339516	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0033 a0001c0001t0001g0074	2	172	0.0116	-21	c.-13 others(42): Show c.-138-19958_-138-19938delAAATATATATATATATATATA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106405181	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 homoSapiens_chm13v2.hp1 HG03225.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0023 a0001c0002t0001g0072 a0001c0001t0007g0023 a0001c0002t0001g0072	2	172	0.0116	-21	c.23+ others(38): Show c.23+45546_23+45566delATATATATATATATATATATA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16						chr8	TogoVar
OXR1_chr8_106265190_106757694	106410056	CTGAAAAC others(14): Show CTGAAAACTGACAATGGATAGA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	172	0.0058	-21	c.23+ others(38): Show c.23+50422_23+50442delGAAAACTGACAATGGATAGAT		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSR1_chr3_38160537_38260484	38184903	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	248	0.0040	-21	c.183 others(38): Show c.183+1816_183+1836delTTTTTTTTTTTTTTTTTTTTT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
P2RY11_chr19_10106693_10120372	10119050	TGGCAGTC others(14): Show TGGCAGTCCTCACTCACCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(173): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0021 others(3): Show a0001c0001 a0001c0002 a0001c0021 a0005c0010 a0006c0023 a0008c0022	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0021t0002 a0005c0010t0002 a0006c0023t0002 a0008c0022t0002	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0007g0001 a0001c0002t0001g0013 a0001c0002t0002g0003 a0001c0002t0002g0027 a0001c0002t0006g0016 a0001c0021t0002g0001 a0005c0010t0002g0001 a0006c0023t0002g0001 a0008c0022t0002g0019	176	452	0.3894	-21	c.43 others(32): Show c.4313_*4333delGGCAGTCCTCACTCACCTCCC		P2RY11	ENSG00000244165.2	transcript	ENST00000321826.5	protein_coding					3679		chr19	TogoVar
P4HA1_chr10_73002217_73101866	73037551	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	234	0.0043	-21	c.114 others(40): Show c.1149-7202_1149-7182delATATATATATATATATATATA		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14						chr10	TogoVar
P4HA1_chr10_73002217_73101866	73042917	GATAAGGT others(14): Show GATAAGGTTAAGAAACCTTGTC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	234	0.0043	-21	c.114 others(40): Show c.1148+2043_1148+2063delGACAAGGTTTCTTAACCTTAT		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14						chr10	TogoVar
P4HA1_chr10_73002217_73101866	73059423	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	234	0.0043	-21	c.464 others(38): Show c.464-5854_464-5834delTTTTTTTTTTTTTTTTTTTTA		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	5/14						chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093868	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	234	0.0043	-21	c.-33 others(38): Show c.-33+2877_-33+2897delATATATATATATATATTTTTT		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14						chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093870	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	234	0.0043	-21	c.-33 others(38): Show c.-33+2875_-33+2895delATATATATATATATATATTTT		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14						chr10	TogoVar
PACC1_chr1_212358928_212419886	212381674	ACAGACAC others(14): Show ACAGACACACACACACACACTG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0335 a0001c0001t0006g0335	1	374	0.0027	-21	c.496 others(38): Show c.496-1658_496-1638delCAGTGTGTGTGTGTGTGTCTG		PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7						chr1	TogoVar
PACRG_chr6_162722974_163320500	163102702	TACCAACT others(14): Show TACCAACTAGATTTGCGAGTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02818.hp2 others(5): Show HG02145.hp2 HG02809.hp1 HG02818.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0002g0024 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0003t0003g0061	8	130	0.0615	-21	c.613 others(40): Show c.613+13298_613+13318delAACTAGATTTGCGAGTCCACC		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269873	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAAC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	130	0.0077	-21	c.614 others(40): Show c.614-44934_614-44914delACAAAGAAAGAAAGAAAGAAA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66156234	ATATATAT others(14): Show ATATATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp2 HG03516.hp1 HG02976.hp1 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301	3	322	0.0093	-21	c.357 others(40): Show c.357-37250_357-37230delATATATATATATATATATAGT		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66162703	AGCTTTAG others(14): Show AGCTTTAGGAGATGAAAACAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 NA19240.hp2 HG02622.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0059 a0001c0001t0003g0312 a0001c0001t0003g0313	3	322	0.0093	-21	c.357 others(40): Show c.357-30780_357-30760delTTTAGGAGATGAAAACAAGGC		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202739	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02809.hp1 others(1): Show HG01109.hp1 HG02572.hp2 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 others(1): Show a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052	4	322	0.0124	-21	c.445 others(38): Show c.445-7621_445-7601delAAATATATATATATATATATA		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66215902	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03831.hp2 HG03834.hp2 HG02735.hp1 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0057	3	322	0.0093	-21	c.661 others(36): Show c.661-187_661-167delTAATAATAATAATAATAATAA		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PADI1_chr1_17200128_17251007	17215378	TTCATCAT others(14): Show TTCATCATCATCATCATCGTCA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	406	0.0025	-21	c.93- others(36): Show c.93-6894_93-6874delGTCATCATCATCATCATCATC		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI2_chr1_17061761_17124451	17113251	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0023 a0001c0028t0023	a0001c0028t0023g0237 a0001c0028t0023g0237	1	356	0.0028	-21	c.92+ others(36): Show c.92+6008_92+6028delATAATAATAATAATAATAATA		PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15						chr1	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(14): Show CTTTCTTTTCTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-21	c.-22 others(32): Show c.-2229_-2209delAAAAAAAAAAAAGAAAAGAAA		PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding					1967		chr19	TogoVar
PAF1_chr19_39380629_39396106	39395090	GCAATTCA others(14): Show GCAATTCACCCACCTCAGCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-21	c.-42 others(32): Show c.-4247_-4227delGAGGCTGAGGTGGGTGAATTG		PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding					3985		chr19	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172381	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0215 a0001c0001t0006g0215	1	432	0.0023	-21	c.46 others(32): Show c.4683_*4703delATATATATATATATATATATA		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1337		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172384	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	432	0.0023	-21	c.46 others(32): Show c.4686_*4706delTATATATATATATATATATAT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1340		chr11	TogoVar
PAGE2_chrX_55084018_55097842	55097526	GCTTCATC others(14): Show GCTTCATCCTCTAGCCTTGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18955.hp1 NA18968.hp1 others(5): Show NA18953.hp1 NA18955.hp1 NA18968.hp1 NA18989.hp1 NA19003.hp2 NA19055.hp1 NA19057.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	8	316	0.0253	-21	c.47 others(32): Show c.4796_*4816delCTTCATCCTCTAGCCTTGTCT		PAGE2	ENSG00000234068.7	transcript	ENST00000374968.9	protein_coding					4685		chrX	TogoVar
PAH_chr12_102831889_102922244	102871932	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01515.hp1 HG00741.hp1 HG01081.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0002 a0001c0001t0002 a0001c0011t0002	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0011t0002g0069 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0011t0002g0069	3	312	0.0096	-21	c.442 others(38): Show c.442-5290_442-5270delATATTTTTTTTTTTTTTTTTT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAH_chr12_102831889_102922244	102871936	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02976.hp1 HG04228.hp1 HG01981.hp1 HG02976.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0016 a0001c0001t0002 a0001c0006t0016	a0001c0001t0002g0014 a0001c0001t0002g0164 a0001c0006t0016g0163 a0001c0001t0002g0014 a0001c0001t0002g0164 a0001c0006t0016g0163	3	312	0.0096	-21	c.442 others(38): Show c.442-5294_442-5274delATATATATTTTTTTTTTTTTT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAH_chr12_102831889_102922244	102871938	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp1 HG01106.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0067 a0001c0001t0001g0071	2	312	0.0064	-21	c.442 others(38): Show c.442-5296_442-5276delATATATATATTTTTTTTTTTT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAH_chr12_102831889_102922244	102871940	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	312	0.0032	-21	c.442 others(38): Show c.442-5298_442-5278delATATATATATATTTTTTTTTT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAK1_chr11_77317017_77479094	77388191	CAGATTTA others(14): Show CAGATTTAGCCTAAGGTTACTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	302	0.0033	-21	c.190 others(38): Show c.190+4119_190+4139delAAGTAACCTTAGGCTAAATCT		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	2/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77429056	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02132.hp1 HG01069.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0053 a0001c0001t0005g0292 a0001c0001t0002g0053 a0001c0001t0005g0292	2	302	0.0066	-21	c.-21 others(40): Show c.-21-36536_-21-36516delTTTTTTTTTTTTTTTTTTTTT		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14						chr11	TogoVar
PAK4_chr19_39120786_39184404	39146664	ACACCATC others(14): Show ACACCATCTCTTCACAAAATAG	A A	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	368	0.0027	-21	c.-96 others(40): Show c.-96+20746_-96+20766delCACCATCTCTTCACAAAATAG		PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9						chr19	TogoVar
PAK5_chr20_9532370_9844076	9766445	TGTATATA others(14): Show TGTATATATATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0159 a0001c0005t0010g0159	1	208	0.0048	-21	c.-16 others(42): Show c.-161-55031_-161-55011delTCTGCTTGAATATATATATAC		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALB2_chr16_23598165_23646310	23645106	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00140.hp2 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0038 a0001c0001t0001g0074 a0001c0001t0002g0038	2	326	0.0061	-21	c.-39 others(32): Show c.-3970_-3950delTATATATATATATATATATAT		PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding					3797		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645112	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0041 a0003c0003t0002g0041	1	326	0.0031	-21	c.-39 others(32): Show c.-3976_-3956delTATATATATATATATATATAT		PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding					3803		chr16	TogoVar
PALLD_chr4_168492052_168933441	168536572	AGCAAGAC others(14): Show AGCAAGACACCTTCCACACAAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0007 a0002c0018t0007	a0002c0018t0007g0012 a0002c0018t0007g0012	1	156	0.0064	-21	c.908 others(40): Show c.908+24164_908+24184delAGACACCTTCCACACAACGCA		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168709612	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	156	0.0064	-21	c.162 others(38): Show c.1621+467_1621+487delAGGAAGGAAGGAAGGAAGGAA		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759203	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG02896.hp1 others(4): Show HG00639.hp1 HG02451.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03540.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0008 others(1): Show a0001c0001 a0001c0004 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0004t0003 a0001c0004t0006 others(3): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0015 a0003c0008t0004 a0004c0009t0004	a0001c0001t0001g0051 a0001c0004t0003g0020 a0001c0004t0006g0096 others(4): Show a0001c0001t0001g0051 a0001c0004t0003g0020 a0001c0004t0006g0096 a0001c0004t0015g0011 a0003c0008t0004g0052 a0004c0009t0004g0038 a0004c0009t0004g0039	7	156	0.0449	-21	c.196 others(42): Show c.1964+47281_1964+47301delTATATATATATATATATATAT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21						chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014802	AAATGTAT others(14): Show AAATGTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG01243.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0191 a0001c0007t0001g0149 a0001c0001t0001g0191 a0001c0007t0001g0149	2	222	0.0090	-21	c.497 others(38): Show c.497-1150_497-1130delATGTATATATATATATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683090	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0328 a0006c0007t0001g0328	1	380	0.0026	-21	c.252 others(38): Show c.252-3583_252-3563delAGAAAGAAAGAAAGAAAGAAA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67284547	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	290	0.0035	-21	c.367 others(38): Show c.367+5031_367+5051delAAAAAAAAAAAAAAAAAAAAA		PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr14	TogoVar

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