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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Results per page.

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
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(32): Show GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp2 HG03579.hp2 HG01255.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0010 a0001c0001t0001 a0001c0003t0001 a0001c0003t0010	a0001c0001t0001g0172 a0001c0003t0001g0147 a0001c0003t0010g0195 a0001c0001t0001g0172 a0001c0003t0001g0147 a0001c0003t0010g0195	3	286	0.0105	39	c.335 others(58): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161874187	A A	AATATATA others(32): Show AATATATATTATATATAATATATAATATATATTATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	32	0.0313	39	c.735 others(58): Show c.735-88280_735-88279insAATATATAATATATATTATATATTAT ATATAATATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3600521	T T	TTTCACTC others(32): Show TTTCACTCATGTAAAATAAAAAGTTCTGGAGATCTGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	227	0.0044	39	c.84 others(50): Show c.8447_*8448insCCAGCAGATCTCCAGAACTTTTTATTTTACATGA GTGAA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding		3818		chrX	TogoVar
PRKX_chrX_3599340_3718649	3600521	T T	TTTCAGTC others(32): Show TTTCAGTCATGTAAAATAAAAAGTTCTGGAGATCTGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(117): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18951.hp2 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0002c0003 a0002c0004 a0002c0011 a0002c0012 a0003c0010 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(89): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0055 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0088 a0001c0001t0089 a0001c0001t0093 a0001c0001t0096 a0001c0001t0097 a0001c0001t0130 a0001c0001t0134 a0001c0001t0135 a0001c0001t0137 a0001c0001t0139 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0024 a0001c0002t0027 a0001c0002t0031 a0001c0002t0035 a0001c0002t0038 a0001c0002t0041 a0001c0002t0045 a0001c0002t0057 a0001c0002t0061 a0001c0002t0064 a0001c0002t0083 a0001c0002t0084 a0001c0002t0102 a0001c0002t0114 a0001c0002t0138 a0001c0005t0019 a0001c0009t0063 a0002c0003t0008 a0002c0003t0011 a0002c0003t0024 a0002c0003t0032 a0002c0003t0104 a0002c0003t0112 a0002c0003t0115 a0002c0003t0116 a0002c0003t0123 a0002c0004t0008 a0002c0004t0011 a0002c0004t0032 a0002c0004t0033 a0002c0004t0106 a0002c0004t0107 a0002c0004t0110 a0002c0004t0125 a0002c0004t0126 a0002c0004t0133 a0002c0011t0120 a0002c0012t0011 a0003c0010t0008 a0004c0006t0034	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 others(117): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0003g0030 a0001c0001t0003g0062 a0001c0001t0005g0010 a0001c0001t0005g0016 a0001c0001t0005g0027 a0001c0001t0005g0091 a0001c0001t0006g0028 a0001c0001t0007g0150 a0001c0001t0007g0157 a0001c0001t0014g0020 a0001c0001t0014g0025 a0001c0001t0014g0034 a0001c0001t0015g0131 a0001c0001t0015g0162 a0001c0001t0016g0137 a0001c0001t0017g0129 a0001c0001t0017g0163 a0001c0001t0018g0111 a0001c0001t0018g0146 a0001c0001t0020g0151 a0001c0001t0020g0155 a0001c0001t0023g0135 a0001c0001t0025g0084 a0001c0001t0026g0021 a0001c0001t0026g0092 a0001c0001t0028g0114 a0001c0001t0030g0132 a0001c0001t0031g0121 a0001c0001t0037g0002 a0001c0001t0042g0032 a0001c0001t0044g0051 a0001c0001t0048g0078 a0001c0001t0049g0083 a0001c0001t0055g0077 a0001c0001t0065g0009 a0001c0001t0066g0094 a0001c0001t0068g0063 a0001c0001t0070g0046 a0001c0001t0071g0066 a0001c0001t0072g0098 a0001c0001t0075g0087 a0001c0001t0080g0124 a0001c0001t0081g0125 a0001c0001t0082g0112 a0001c0001t0088g0144 a0001c0001t0089g0152 a0001c0001t0093g0115 a0001c0001t0096g0138 a0001c0001t0097g0148 a0001c0001t0130g0173 a0001c0001t0134g0222 a0001c0001t0135g0224 a0001c0001t0137g0223 a0001c0001t0139g0227 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0004g0003 a0001c0002t0004g0033 a0001c0002t0004g0075 a0001c0002t0005g0023 a0001c0002t0007g0128 a0001c0002t0007g0134 a0001c0002t0007g0156 a0001c0002t0015g0120 a0001c0002t0016g0118 a0001c0002t0016g0119 a0001c0002t0017g0130 a0001c0002t0018g0142 a0001c0002t0024g0058 a0001c0002t0027g0097 a0001c0002t0031g0164 a0001c0002t0035g0069 a0001c0002t0038g0053 a0001c0002t0041g0088 a0001c0002t0045g0047 a0001c0002t0057g0076 a0001c0002t0061g0037 a0001c0002t0064g0100 a0001c0002t0083g0161 a0001c0002t0084g0117 a0001c0002t0102g0168 a0001c0002t0114g0172 a0001c0002t0138g0221 a0001c0005t0019g0106 a0001c0005t0019g0133 a0001c0005t0019g0141 a0001c0009t0063g0096 a0002c0003t0008g0205 a0002c0003t0011g0216 a0002c0003t0024g0105 a0002c0003t0032g0184 a0002c0003t0104g0170 a0002c0003t0112g0208 a0002c0003t0115g0186 a0002c0003t0116g0195 a0002c0003t0123g0213 a0002c0004t0008g0190 a0002c0004t0011g0209 a0002c0004t0032g0197 a0002c0004t0033g0215 a0002c0004t0106g0214 a0002c0004t0107g0218 a0002c0004t0110g0212 a0002c0004t0125g0211 a0002c0004t0126g0193 a0002c0004t0133g0220 a0002c0011t0120g0207 a0002c0012t0011g0187 a0003c0010t0008g0178 a0004c0006t0034g0001	120	227	0.5286	39	c.84 others(50): Show c.8447_*8448insCCAGCAGATCTCCAGAACTTTTTATTTTACATGA CTGAA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding		3818		chrX	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	364	0.0028	39	c.75+ others(54): Show c.75+4515_75+4516insATATATATATATATATATATATATATATTT TTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	364	0.0028	39	c.75+ others(54): Show c.75+4515_75+4516insATATATATATATATATATATATATATTTTT TTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRPF31_chr19_54110754_54136713	54134028	A A	ACCTCCCC others(32): Show ACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01071.hp2 others(51): Show HG00099.hp1 HG00280.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18960.hp2 NA18983.hp2 NA19012.hp1 NA19057.hp2 NA19079.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0002t0001g0006	54	227	0.2379	39	c.25 others(50): Show c.2596_*2597insCCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCC TCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2316		chr19	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	316	0.0032	39	c.79 others(50): Show c.7922_*7923insATATATATATATATATATATATATATATATTTTT TTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	216	0.0046	39	c.-51 others(56): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0023 a0002c0033t0023	a0002c0033t0023g0163 a0002c0033t0023g0163	1	216	0.0046	39	c.-51 others(56): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTTCTTTCTTTCTT TTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS37_chr7_141831300_141846485	141843547	G G	GTACCGAA others(32): Show GTACCGAATAGCTTATAAGTAAATAATAATAATAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	39	c.-24 others(50): Show c.-2499_-2498insTCTTTTTATTATTATTATTTACTTATAAGCTATT CGGTA	PRSS37	ENSG00000165076.14	transcript	ENST00000350549.8	protein_coding		2063		chr7	TogoVar
PRSS57_chr19_680546_700452	689104	C C	CGGGGCCG others(32): Show CGGGGCCGGAAGGGTGGTCCAGGGGTTAGCAGGAGATGAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0218 a0001c0002t0002g0218	1	442	0.0023	39	c.379 others(56): Show c.379-1917_379-1916insATCATCTCCTGCTAACCCCTGGACCACC CTTCCGGCCCC	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4			chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0039 a0039	a0039c0055 a0039c0055	a0039c0055t0004 a0039c0055t0004	a0039c0055t0004g0170 a0039c0055t0004g0170	1	240	0.0042	39	c.37- others(52): Show c.37-875_37-874insATATATATATATATATATATTTTTTTTTTTTT TTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(32): Show CTTATATATCATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	300	0.0033	39	c.-18 others(50): Show c.-1889_-1888insTTATATATCATATATATATATATATATATATATA TATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	416	0.0024	39	c.870 others(56): Show c.870-1095_870-1094insATATATATATATATATATATATATTTTT TTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0358 a0001c0002t0001g0358	1	416	0.0024	39	c.870 others(56): Show c.870-1095_870-1094insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18594379	A A	AATACATT others(32): Show AATACATTATATATAATATATTATATAATATATAAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0056 a0012c0018t0056	a0012c0018t0056g0201 a0012c0018t0056g0201	1	228	0.0044	39	c.248 others(58): Show c.2481+5946_2481+5984dupATTATTTATATATTATATAATATATT ATATATAATGTAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0276 a0001c0001t0006g0276	1	378	0.0027	39	c.87+ others(54): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT ATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar
PSMB7_chr9_124348465_124420442	124417989	G G	GTGTCTGA others(32): Show GTGTCTGACGCATAATGGGAGCTCAATAAATATTTGTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	408	0.0025	39	c.-25 others(50): Show c.-2565_-2564insTCAACAAATATTTATTGAGCTCCCATTATGCGTC AGACA	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding		2548		chr9	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	268	0.0037	39	c.49- others(56): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(32): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02135.hp2 HG03654.hp2 HG01261.hp2 HG02135.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0009 a0001c0001t0002g0105 a0001c0001t0001g0137 a0001c0001t0002g0009 a0001c0001t0002g0105	3	268	0.0112	39	c.571 others(56): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0321 a0001c0005t0001g0321	1	384	0.0026	39	c.481 others(56): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0290 a0003c0004t0001g0290	1	384	0.0026	39	c.958 others(54): Show c.958-616_958-615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19065.hp2 HG02109.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0301 a0001c0002t0001g0273 a0001c0002t0001g0301	2	364	0.0055	39	c.905 others(56): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0234 a0001c0003t0003g0234	1	380	0.0026	39	c.-20 others(50): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATATATATAT ATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATGTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA21309.hp2 HG02258.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0043 a0001c0003t0003g0229 a0001c0001t0003g0043 a0001c0003t0003g0229	2	380	0.0053	39	c.-20 others(50): Show c.-2010_-2009insAAAAAAAAAAACATATATATATATATATATATAT ATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCHD4_chr6_47851673_48116197	47857125	C C	CTTATGAT others(32): Show CTTATGATCAGTGTTGCTTTACATGTTTTCAGAATAATCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0098 a0001c0002t0098	a0001c0002t0098g0170 a0001c0002t0098g0170	1	182	0.0055	39	c.21 others(52): Show c.21139_*21177dupTGATTATTCTGAAAACATGTAAAGCAACACTG ATCATAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	5/5	21177		chr6	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18979.hp1 HG03492.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0002t0003 a0001c0001t0054 a0001c0002t0003	a0001c0001t0054g0112 a0001c0002t0003g0013 a0001c0001t0054g0112 a0001c0002t0003g0013	2	182	0.0110	39	c.-97 others(60): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTGDR_chr14_52262698_52281724	52275301	A A	ACATACAG others(32): Show ACATACAGGTCTTTTAAAATACAGTAGAAACACCACTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0063 a0001c0001t0017g0063	1	438	0.0023	39	c.33 others(48): Show c.338_*376dupCATACAGGTCTTTTAAAATACAGTAGAAACACCACT GTT	PTGDR	ENSG00000168229.4	transcript	ENST00000306051.3	protein_coding	2/2	377	INFO_REALIGN_3_PRIME	chr14	TogoVar
PTK2B_chr8_27320552_27464386	27320980	C C	CACCAGGC others(32): Show CACCAGGCATCTCATTGGCATACAAAAGGCTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA18957.hp1 HG00609.hp1 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0001 a0001c0001t0003 a0002c0005t0001	a0001c0001t0003g0073 a0002c0005t0001g0074 a0001c0001t0003g0073 a0002c0005t0001g0074	2	328	0.0061	39	c.-47 others(50): Show c.-4739_-4738insACCAGGCATCTCATTGGCATACAAAAGGCTTTTT TTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		4571		chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	328	0.0031	39	c.-38 others(58): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0076 a0001c0008t0010g0076	1	272	0.0037	39	c.-15 others(60): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT ATATTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(32): Show ATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	336	0.0030	39	c.64- others(54): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	370	0.0027	39	c.859 others(56): Show c.859-5436_859-5435insATATATATATATATATATATATATTTTT TTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	370	0.0027	39	c.859 others(56): Show c.859-5436_859-5435insATATATATATATATATATATATATATTT TTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12876296	A A	AAAGAAGA others(32): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 NA18947.hp2 others(8): Show HG01081.hp1 HG02257.hp2 NA18947.hp2 NA18961.hp2 NA18975.hp2 NA18980.hp2 NA18998.hp2 NA19009.hp1 NA19060.hp1 NA19077.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(8): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0025g0027	11	370	0.0297	39	c.69+ others(54): Show c.69+7776_69+7777insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75530723	T T	TATAATAT others(32): Show TATAATATATATTATTATATAATATATATAATATAATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0291 a0001c0001t0041g0291	1	326	0.0031	39	c.64- others(54): Show c.64-3501_64-3463dupTATATTATATTATATATATTATATAATAAT ATATATTAT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	326	0.0031	39	c.64- others(56): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(32): Show GTATATTATATATTTTATATATAATATATTTTGTATATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(46): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp2 HG01074.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02615.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18974.hp2 NA18986.hp1 NA18998.hp2 NA19012.hp2 NA19043.hp1 NA19082.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0014 a0001c0016 a0002c0002 a0004c0010 a0007c0017	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0007 a0001c0016t0001 a0002c0002t0001 a0004c0010t0001 a0007c0017t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(46): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0134 a0001c0001t0001g0158 a0001c0003t0001g0040 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0233 a0001c0003t0001g0255 a0001c0007t0001g0149 a0001c0007t0001g0155 a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0052 a0001c0008t0001g0055 a0001c0008t0001g0165 a0001c0014t0007g0035 a0001c0016t0001g0042 a0002c0002t0001g0296 a0002c0002t0001g0312 a0002c0002t0001g0352 a0004c0010t0001g0002 a0004c0010t0001g0003 a0007c0017t0001g0154	49	356	0.1376	39	c.-12 others(60): Show c.-128-12788_-128-12787insTTTTATATATAATATATTTTGTAT ATTATATATTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	9772644	A A	AGCTTAGT others(32): Show AGCTTAGTATATATCTGTCTCTGATGATATCTGTCTATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0030 a0001c0002t0011g0030	1	34	0.0294	39	c.-36 others(58): Show c.-367-5832_-367-5794dupATATAGACAGATATCATCAGAGACAG ATATATACTAAGC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61638591	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0005 a0001c0014t0015g0005	1	94	0.0106	39	c.85+ others(56): Show c.85+76246_85+76247insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	94	0.0106	39	c.376 others(54): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48053424	G G	GTATAAAA others(32): Show GTATAAAATATATATTATATATTATATACTATATATTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01884.hp1 others(12): Show HG01109.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02896.hp1 HG02976.hp1 HG03098.hp1 HG03540.hp2 HG06807.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0004 a0001c0028 a0002c0001 others(3): Show a0001c0004 a0001c0028 a0002c0001 a0004c0008 a0005c0012 a0007c0009	a0001c0004t0012 a0001c0004t0045 a0001c0028t0040 others(6): Show a0001c0004t0012 a0001c0004t0045 a0001c0028t0040 a0002c0001t0007 a0004c0008t0005 a0005c0012t0036 a0005c0012t0070 a0005c0012t0071 a0007c0009t0016	a0001c0004t0012g0039 a0001c0004t0012g0043 a0001c0004t0012g0044 others(12): Show a0001c0004t0012g0039 a0001c0004t0012g0043 a0001c0004t0012g0044 a0001c0004t0012g0045 a0001c0004t0012g0046 a0001c0004t0045g0042 a0001c0028t0040g0020 a0002c0001t0007g0017 a0002c0001t0007g0040 a0004c0008t0005g0118 a0005c0012t0036g0018 a0005c0012t0036g0041 a0005c0012t0070g0016 a0005c0012t0071g0019 a0007c0009t0016g0006	15	216	0.0694	39	c.97- others(56): Show c.97-56628_97-56590dupAATATATATTATATATTATATACTATAT ATTATATATAA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18999.hp2 NA19082.hp1 HG03834.hp1 NA18999.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0003g0021 a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0003g0021	3	358	0.0084	39	c.195 others(58): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PVR_chr19_44638910_44671162	44668559	T T	TACACATA others(32): Show TACACATATTATATATGTATATAATTATATAATTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0091 a0001c0001t0002 a0001c0001t0091	a0001c0001t0002g0158 a0001c0001t0091g0151 a0001c0001t0002g0158 a0001c0001t0091g0151	2	412	0.0049	39	c.67 others(50): Show c.6748_*6749insACACATATTATATATGTATATAATTATATAATTA TATAC	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2398		chr19	TogoVar
PVR_chr19_44638910_44671162	44668561	C C	CATATATA others(32): Show CATATATAATATGTGTATATAATTATATAATTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03710.hp1 HG04115.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0093 a0001c0001t0010g0092 a0001c0001t0010g0094 a0001c0001t0001g0093 a0001c0001t0010g0092 a0001c0001t0010g0094	3	412	0.0073	39	c.67 others(50): Show c.6750_*6751insATATATAATATGTGTATATAATTATATAATTATA TACAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2400		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51464364	T T	TAATTTTT others(32): Show TAATTTTTAAAAAAATCAATTTTTATAAGTAAAATAACCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG02559.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03209.hp2 HG03516.hp1	a0004 a0006 a0011 others(1): Show a0004 a0006 a0011 a0022	a0004c0041 a0006c0006 a0011c0017 others(1): Show a0004c0041 a0006c0006 a0011c0017 a0022c0042	a0004c0041t0001 a0006c0006t0001 a0011c0017t0001 others(1): Show a0004c0041t0001 a0006c0006t0001 a0011c0017t0001 a0022c0042t0001	a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 others(5): Show a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 a0006c0006t0001g0045 a0006c0006t0001g0046 a0011c0017t0001g0054 a0011c0017t0001g0075 a0022c0042t0001g0044	8	122	0.0656	39	c.813 others(56): Show c.813-6698_813-6697insTGGTTATTTTACTTATAAAAATTGATTT TTTTAAAAATT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	8/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51464364	T T	TAATTTTT others(32): Show TAATTTTTTAAAAAATCAATTTTTATAAGTAAAATAACCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(105): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034	a0001c0001 a0001c0011 a0001c0032 others(37): Show a0001c0001 a0001c0011 a0001c0032 a0001c0046 a0002c0002 a0002c0021 a0002c0037 a0003c0003 a0003c0005 a0003c0033 a0004c0004 a0005c0015 a0005c0018 a0005c0028 a0007c0007 a0008c0008 a0009c0012 a0009c0045 a0010c0009 a0012c0013 a0013c0030 a0014c0014 a0015c0044 a0016c0010 a0017c0016 a0018c0049 a0019c0047 a0020c0035 a0021c0022 a0023c0029 a0024c0026 a0025c0034 a0027c0031 a0028c0038 a0029c0039 a0030c0040 a0031c0020 a0032c0048 a0033c0036 a0034c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0002 a0001c0032t0002 a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0021t0002 a0002c0037t0001 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0003c0005t0003 a0003c0033t0001 a0004c0004t0001 a0004c0004t0003 a0005c0015t0001 a0005c0015t0002 a0005c0018t0001 a0005c0028t0001 a0007c0007t0001 a0007c0007t0002 a0008c0008t0001 a0008c0008t0003 a0009c0012t0001 a0009c0012t0003 a0009c0045t0001 a0010c0009t0001 a0012c0013t0001 a0013c0030t0002 a0014c0014t0001 a0014c0014t0003 a0015c0044t0001 a0016c0010t0002 a0017c0016t0001 a0018c0049t0003 a0019c0047t0001 a0020c0035t0003 a0021c0022t0003 a0023c0029t0001 a0024c0026t0003 a0025c0034t0002 a0027c0031t0002 a0028c0038t0002 a0029c0039t0002 a0030c0040t0001 a0031c0020t0001 a0032c0048t0001 a0033c0036t0001 a0034c0019t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 others(105): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0003g0013 a0001c0011t0002g0100 a0001c0032t0002g0106 a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0002c0021t0002g0092 a0002c0037t0001g0087 a0003c0003t0001g0021 a0003c0003t0001g0051 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0002g0107 a0003c0005t0001g0041 a0003c0005t0001g0070 a0003c0005t0003g0003 a0003c0005t0003g0006 a0003c0005t0003g0010 a0003c0033t0001g0035 a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0005c0015t0001g0030 a0005c0015t0002g0115 a0005c0018t0001g0024 a0005c0018t0001g0085 a0005c0028t0001g0083 a0007c0007t0001g0029 a0007c0007t0001g0031 a0007c0007t0002g0099 a0008c0008t0001g0059 a0008c0008t0001g0064 a0008c0008t0003g0007 a0009c0012t0001g0038 a0009c0012t0003g0012 a0009c0045t0001g0052 a0010c0009t0001g0086 a0010c0009t0001g0088 a0012c0013t0001g0058 a0012c0013t0001g0066 a0013c0030t0002g0105 a0014c0014t0001g0056 a0014c0014t0003g0018 a0015c0044t0001g0061 a0016c0010t0002g0094 a0016c0010t0002g0108 a0017c0016t0001g0062 a0017c0016t0001g0063 a0018c0049t0003g0014 a0019c0047t0001g0074 a0020c0035t0003g0011 a0021c0022t0003g0004 a0023c0029t0001g0055 a0024c0026t0003g0002 a0025c0034t0002g0122 a0027c0031t0002g0121 a0028c0038t0002g0119 a0029c0039t0002g0120 a0030c0040t0001g0060 a0031c0020t0001g0084 a0032c0048t0001g0069 a0033c0036t0001g0091 a0034c0019t0001g0090	108	122	0.8853	39	c.813 others(56): Show c.813-6698_813-6697insTGGTTATTTTACTTATAAAAATTGATTT TTTAAAAAATT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	8/22			chr8	TogoVar
PYDC1_chr16_31210962_31222135	31218682	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATCAGAAAATTTGCTGGGCACGGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	39	c.-16 others(50): Show c.-1693_-1655dupCACCACCGTGCCCAGCAAATTTTCTGATTTTTTT TTTTT	PYDC1	ENSG00000169900.8	transcript	ENST00000302964.4	protein_coding		1548		chr16	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0272 a0001c0001t0036g0272	1	412	0.0024	39	c.49+ others(56): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar

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