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
OR4K1_chr14_19925917_19941757	19937349	A A	AATTATAT others(31): Show AATTATATATATAATATATATATATAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(39): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01099.hp2 HG01167.hp2 HG01255.hp2 HG01496.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02132.hp1 HG02135.hp1 HG02615.hp1 HG03239.hp1 HG03942.hp2 NA18940.hp1 NA18942.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp2 NA18973.hp1 NA18978.hp1 NA18986.hp2 NA18988.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19072.hp1 NA19076.hp2 NA19090.hp1 NA20752.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0010 a0003c0003 a0010c0010	a0003c0003t0002 a0010c0010t0002 a0003c0003t0002 a0010c0010t0002	a0003c0003t0002g0002 a0003c0003t0002g0012 a0003c0003t0002g0017 others(3): Show a0003c0003t0002g0002 a0003c0003t0002g0012 a0003c0003t0002g0017 a0003c0003t0002g0032 a0003c0003t0002g0035 a0010c0010t0002g0002	42	252	0.1667	38	c.74 others(47): Show c.747_*748insATTATATATATAATATATATATATAATATATATTAT AT		OR4K1	ENSG00000155249.5	transcript	ENST00000641172.1	protein_coding					593		chr14	TogoVar
OR4M2B_chr15_21632909_21643992	21642203	G G	GTATATAT others(31): Show GTATATATATATATACACACACATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01070.hp1 others(3): Show HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp2 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	6	215	0.0279	38	c.32 others(49): Show c.3255_*3256insTATATATATATATACACACACATATATATATATA TATA		OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding					3212		chr15	TogoVar
OR4S1_chr11_48301223_48312152	48306011	A A	AATAATAT others(31): Show AATAATATATTATATATATTATATATATAATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02027.hp1 HG02258.hp2 others(1): Show HG01258.hp2 HG02027.hp1 HG02258.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	4	426	0.0094	38	c.-21 others(47): Show c.-212_-211insATAATATATTATATATATTATATATATAATAATATA TT		OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding					211		chr11	TogoVar
OR5AN1_chr11_59353895_59376714	59354648	G G	GAGGGCAA others(31): Show GAGGGCAATGGTTTTGGCACTGAAGATTATTAGAGTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG03927.hp1 HG00642.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0027 a0002c0002t0011 a0002c0002t0027	a0002c0002t0011g0023 a0002c0002t0027g0023 a0002c0002t0011g0023 a0002c0002t0027g0023	2	358	0.0056	38	c.-46 others(49): Show c.-4638_-4637insAGGGCAATGGTTTTGGCACTGAAGATTATTAGAG TTTT		OR5AN1	ENSG00000176495.3	transcript	ENST00000641998.1	protein_coding					4246		chr11	TogoVar
OR5AS1_chr11_56022654_56043191	56039648	T T	TATATACA others(31): Show TATATACATATATATACATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	38	c.82 others(49): Show c.8255_*8256insATATACATATATATACATATATATATATATATAT ATAC		OR5AS1	ENSG00000181785.3	transcript	ENST00000641320.1	protein_coding					1458		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636401	C C	CCTCTCCC others(31): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01099.hp2 others(5): Show HG01074.hp1 HG01081.hp2 HG01099.hp2 HG02040.hp2 HG02735.hp1 NA19010.hp2 NA19012.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 a0001c0001t0001 a0001c0001t0018 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0129 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0018g0300 a0002c0002t0002g0144	8	362	0.0221	38	c.-27 others(55): Show c.-27-1564_-27-1563insAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OR7D2_chr19_9173979_9193818	9175557	C C	CATATATA others(31): Show CATATATATATACATGTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	38	c.-36 others(49): Show c.-3671_-3670insATATATATATACATGTATATATATATATATATAT ATAT		OR7D2	ENSG00000188000.6	transcript	ENST00000641288.2	protein_coding					3421		chr19	TogoVar
OR7G2_chr19_9095407_9112475	9105557	A A	ACCCCCCC others(31): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0108 a0002c0002t0024g0108	1	442	0.0023	38	c.-17 others(55): Show c.-17+1756_-17+1757insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGG		OR7G2	ENSG00000170923.4	transcript	ENST00000641081.1	protein_coding	1/1						chr19	TogoVar
ORC3_chr6_87585135_87672451	87602962	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	378	0.0027	38	c.178 others(53): Show c.178-413_178-412insTATATATATATATATATATATATATATACA TATATATA		ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
ORM1_chr9_114318098_114331479	114318927	T T	TAGATATA others(31): Show TAGATATAGATGATAGATAGATGATAGATAGATTAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0022 a0006c0007t0001g0022	1	464	0.0022	38	c.-42 others(49): Show c.-4207_-4206insAGATATAGATGATAGATAGATGATAGATAGATTA GATA		ORM1	ENSG00000229314.6	transcript	ENST00000259396.9	protein_coding					4170		chr9	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01258.hp1 others(7): Show HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01981.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0003c0008t0002	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0151 a0001c0006t0002g0056 a0003c0008t0002g0005	10	186	0.0538	38	c.940 others(55): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATATATA		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31740857	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp2 HG03579.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0020 a0001c0006 a0003c0020	a0001c0006t0001 a0003c0020t0001 a0001c0006t0001 a0003c0020t0001	a0001c0006t0001g0091 a0003c0020t0001g0010 a0001c0006t0001g0091 a0003c0020t0001g0010	2	186	0.0108	38	c.940 others(55): Show c.940+7052_940+7053insTATATATATATATATATATATATATATA TATATATAAA		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31740858	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	186	0.0054	38	c.940 others(55): Show c.940+7051_940+7052insGTATATATATATATATATATATATATAT ATATATATAT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	5/11						chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24315743	T T	TATATAAT others(31): Show TATATAATATAATATATAGTATATATTATATAATAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	206	0.0049	38	c.870 others(55): Show c.870+1368_871-1397dupTTTTTATTATATAATATATACTATATAT TATATTATAT		OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	11/27						chr18	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00738.hp1 others(21): Show HG00408.hp2 HG00423.hp1 HG00738.hp1 HG01071.hp2 HG01515.hp1 HG01515.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02723.hp2 HG03942.hp2 NA18946.hp2 NA18950.hp1 NA18973.hp1 NA18985.hp2 NA19005.hp2 NA19011.hp1 NA19067.hp1 NA19072.hp1 NA19080.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0287 a0001c0001t0001g0345	24	443	0.0542	38	c.52 others(49): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding					4727		chr19	TogoVar
OTOA_chr16_21658968_21765729	21695891	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0291 a0001c0012t0002g0291	1	320	0.0031	38	c.740 others(55): Show c.740-1883_740-1882insATATATATATATATATATATATTTTTTT TTTTTTTTTT		OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	9/28					INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOP3_chr17_74930898_74954992	74949336	G G	GATTAGGC others(31): Show GATTAGGCGAGAACTCAGGCGTACTTTGTGAAGGTACTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18954.hp1 NA18954.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0287 a0015c0027t0001g0287	1	468	0.0021	38	c.165 others(47): Show c.1657_1658insATTAGGCGAGAACTCAGGCGTACTTTGTGAAGGTAC TT	p.Val others(5): Show p.Val553fs	OTOP3	ENSG00000182938.7	transcript	ENST00000328801.6	protein_coding	7/7	1682/2337	1658/1737	553/578			chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	244	0.0041	38	c.332 others(55): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(31): Show GATAAATATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02155.hp1 HG03453.hp1 others(3): Show HG02080.hp2 HG02155.hp1 HG03453.hp1 NA18944.hp1 NA18990.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0002c0007	a0001c0001t0011 a0001c0001t0056 a0001c0002t0001 others(2): Show a0001c0001t0011 a0001c0001t0056 a0001c0002t0001 a0001c0016t0001 a0002c0007t0008	a0001c0001t0011g0044 a0001c0001t0056g0045 a0001c0002t0001g0043 others(3): Show a0001c0001t0011g0044 a0001c0001t0056g0045 a0001c0002t0001g0043 a0001c0002t0001g0063 a0001c0016t0001g0041 a0002c0007t0008g0042	6	244	0.0246	38	c.-10 others(57): Show c.-100+9884_-100+9885insATATATATATATATATATATATATAT ATGTATATTTAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12						chr15	TogoVar
OXCT1_chr5_41725065_41875425	41859891	T T	TATATATA others(31): Show TATATATATATATGTAATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01167.hp1 others(6): Show HG00140.hp1 HG01069.hp1 HG01167.hp1 HG01243.hp2 HG01358.hp2 HG01516.hp1 HG02145.hp2 HG03710.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(6): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0003t0001g0158	9	200	0.0450	38	c.278 others(55): Show c.278+1422_278+1423insTACATATATATATATATATATATTACAT ATATATATAT		OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16						chr5	TogoVar
OXR1_chr8_106265190_106757694	106671044	C C	CAAAAAAA others(31): Show CAAAAAAAACAAAAACAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0143 a0001c0010t0001g0143	1	172	0.0058	38	c.221 others(55): Show c.221-8158_221-8157insCAAAAACAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03486.hp1 NA19086.hp1 HG02886.hp2 HG03486.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	3	386	0.0078	38	c.-58 others(47): Show c.-585_-584insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG		P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding					543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0240 a0001c0004t0001g0240	1	388	0.0026	38	c.134 others(55): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT TTTTTTTTTT		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0034 a0034	a0034c0046 a0034c0046	a0034c0046t0002 a0034c0046t0002	a0034c0046t0002g0297 a0034c0046t0002g0297	1	366	0.0027	38	c.125 others(55): Show c.125+2929_125+2930insAAAAAAAAAAAAAATATATATATATATA TATATATATA		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19060.hp1 HG02027.hp1 NA19060.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0318 a0008c0007t0002g0319 a0008c0007t0002g0318 a0008c0007t0002g0319	2	366	0.0055	38	c.125 others(55): Show c.125+2929_125+2930insAAAAAAAAAAAATATATATATATATATA TATATATATA		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(31): Show CACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0112 a0001c0002t0004g0112	1	304	0.0033	38	c.481 others(57): Show c.481-12524_481-12523insATATATATATATATATATGTGTGTGT GTGTGTGTGTGT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14						chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(31): Show CACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18990.hp2 NA18522.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0016 a0001c0002t0002 a0001c0002t0016	a0001c0002t0002g0237 a0001c0002t0016g0185 a0001c0002t0002g0237 a0001c0002t0016g0185	2	304	0.0066	38	c.481 others(57): Show c.481-12524_481-12523insATATATATATATATATATATATGTGT GTGTGTGTGTGT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14						chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACATA others(31): Show CACACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0020 a0001c0004t0002g0205 a0001c0004t0002g0020 a0001c0004t0002g0205	2	304	0.0066	38	c.481 others(57): Show c.481-12524_481-12523insATATATATATATATATATATATATAT ATATATATGTGT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14						chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0084 a0001c0001t0010g0084	1	304	0.0033	38	c.480 others(57): Show c.480+54093_480+54094insGTGTGTGTATATATATATATATATAT ATATATATATAT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14						chr3	TogoVar
PACRGL_chr4_20695458_20737557	20729134	G G	GCAATATA others(31): Show GCAATATAAATAAACATGCTGTAAGGAAGTCAGGGGAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG03834.hp2 HG02738.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0144 a0001c0001t0020g0145 a0001c0001t0020g0144 a0001c0001t0020g0145	2	412	0.0049	38	c.17 others(49): Show c.1793_*1794insCAATATAAATAAACATGCTGTAAGGAAGTCAGGG GAAA		PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9				1794		chr4	TogoVar
PACRGL_chr4_20695458_20737557	20729510	A A	ATTTTTAA others(31): Show ATTTTTAAATGTTTAAAAATGCCAGATAAAACTAATTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG03704.hp2 HG00280.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0043 a0001c0001t0028g0043	2	412	0.0049	38	c.21 others(49): Show c.2170_*2171insTTTTAAATGTTTAAAAATGCCAGATAAAACTAAT TTCT		PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9				2171	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162947615	T T	TATATATA others(31): Show TATATATAATCATATATATATATATATATATATATAATC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG02148.hp1 HG00741.hp2 HG01255.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0002g0107 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0002g0107	3	130	0.0231	38	c.292 others(59): Show c.292-114528_292-114527insATCATATATATATATATATATATA TATAATCATATATA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947615	T T	TATATATA others(31): Show TATATATATATATAATCATATATATATATATATATAATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	130	0.0077	38	c.292 others(59): Show c.292-114522_292-114521insATCATATATATATATATATATAAT CATATATATATATA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0287 a0001c0001t0024g0287	1	294	0.0034	38	c.-78 others(55): Show c.-78+4622_-78+4623insAATATATATATATATATATATATATATA TATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PADI1_chr1_17200128_17251007	17208595	A A	ACCACCCA others(31): Show ACCACCCACCCCAGTGGGCTAGCCCACCACCCTGTCCAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	406	0.0025	38	c.92+ others(53): Show c.92+3288_92+3289insACCCACCCCAGTGGGCTAGCCCACCACCCT GTCCACCC		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B1_chr17_2588654_2690615	2664665	G G	GCGCTCTC others(31): Show GCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	280	0.0036	38	c.33- others(51): Show c.33-706_33-705insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
PAGE4_chrX_49824303_49839264	49832230	T T	TACAAAAA others(31): Show TACAAAAAGGAATGTAATGATTTTCTGCTTTGTTGGGAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	290	0.0035	38	c.167 others(53): Show c.167-295_167-294insACAAAAAGGAATGTAATGATTTTCTGCTTT GTTGGGAG		PAGE4	ENSG00000101951.17	transcript	ENST00000218068.7	protein_coding	3/4						chrX	TogoVar
PAK5_chr20_9532370_9844076	9766326	T T	TTGAATAT others(31): Show TTGAATATATATATATTCTACTTGAATATATATATATTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	208	0.0048	38	c.-16 others(59): Show c.-161-54892_-161-54891insGAATATATATATATTCAAGTAGAA TATATATATATTCA		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp1 HG02965.hp1 HG00738.hp1 HG02451.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0284 a0001c0001t0006g0297 a0001c0001t0011g0269 a0001c0001t0006g0284 a0001c0001t0006g0297 a0001c0001t0011g0269	3	308	0.0097	38	c.-29 others(57): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508854	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02738.hp2 HG03225.hp1 others(1): Show HG02280.hp2 HG02738.hp2 HG03225.hp1 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0013 a0001c0001t0001 a0001c0001t0002 a0004c0005t0013	a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0001t0002g0172 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0001t0002g0172 a0004c0005t0013g0262	4	308	0.0130	38	c.-29 others(57): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGCGTG		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168610606	A A	AAGACCAA others(31): Show AAGACCAAAGGGGTAGAAATAAACTCGTGCTCCCAACCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02486.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0007 a0001c0001t0005 a0001c0002t0007	a0001c0001t0005g0091 a0001c0002t0007g0010 a0001c0001t0005g0091 a0001c0002t0007g0010	2	156	0.0128	38	c.909 others(57): Show c.909-57578_909-57541dupAAAGGGGTAGAAATAAACTCGTGCTC CCAACCCAGACC		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	156	0.0064	38	c.909 others(57): Show c.909-42672_909-42671insATATATATATATATATATATATATAT ATATATATATAT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625504	T T	TAGATAGA others(31): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0120 a0001c0004t0002g0120	1	156	0.0064	38	c.909 others(57): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATAGA TAGATAGATAGA		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 NA19030.hp2 HG02922.hp1 HG03486.hp2 NA19030.hp2	a0007 a0012 a0007 a0012	a0007c0011 a0012c0018 a0007c0011 a0012c0018	a0007c0011t0002 a0012c0018t0001 a0007c0011t0002 a0012c0018t0001	a0007c0011t0002g0172 a0007c0011t0002g0218 a0012c0018t0001g0002 a0007c0011t0002g0172 a0007c0011t0002g0218 a0012c0018t0001g0002	3	222	0.0135	38	c.583 others(57): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	222	0.0045	38	c.583 others(53): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	290	0.0035	38	c.367 others(55): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr14	TogoVar
PAM16_chr16_4335251_4356321	4344272	C C	CCGTGAGA others(31): Show CCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02486.hp1 others(14): Show HG01891.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230	17	367	0.0463	38	c.4-9 others(49): Show c.4-982_4-981insCAGAACCCCCTCCTCTCACGGAACCCCCTCCTCT CACG		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PAM16_chr16_4335251_4356321	4344329	C C	CGTGAGAG others(31): Show CGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	367	0.0027	38	c.4-1 others(51): Show c.4-1039_4-1038insACAGAACCCCCTCCTCTCACACAATCCCCTCC TCTCAC		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PAM16_chr16_4335251_4356321	4344356	A A	AGAGGGGG others(31): Show AGAGGGGGTTCTGTGTGAGAGGAGGGGGTTCTGTGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	367	0.0027	38	c.4-1 others(51): Show c.4-1066_4-1065insCTCTCACAGAACCCCCTCCTCTCACACAGAAC CCCCTC		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	188	0.0053	38	c.211 others(57): Show c.211-16261_211-16260insTATATATATATATATATATATATATA TATATATATAAA		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr5	TogoVar

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