Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP4R3C_chrX_27455207_27468341	27458637	T T	TGGCCGCC others(30): Show TGGCCGCCCCGTCCGGGATGTGAGGAGCACCTCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02257.hp1 HG02257.hp2 others(8): Show HG01496.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG03098.hp1 HG03453.hp1 NA18522.hp1 NA19240.hp1 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0000 a0002c0005t0004g0000	11	325	0.0339	37	c.21 others(48): Show c.2160_*2161insGGGCAGAGGTGCTCCTCACATCCCGGACGGGGCG GCC	PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding		1569		chrX	TogoVar
PPP4R3C_chrX_27455207_27468341	27458830	A A	AAGGAAAA others(30): Show AAGGAAAAAAAGATAGAGAGGAGAGAGAGATTCCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0000 a0002c0004t0003g0000	1	325	0.0031	37	c.19 others(48): Show c.1967_*1968insGCTGGGAATCTCTCTCTCCTCTCTATCTTTTTTT CCT	PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding		1376		chrX	TogoVar
PPP4R3C_chrX_27455207_27468341	27458843	A A	AGTGGGGA others(30): Show AGTGGGGAGCACCTCTGCCCAGCCACCCCGTCTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	1	325	0.0031	37	c.19 others(48): Show c.1954_*1955insCTCCCAGACGGGGTGGCTGGGCAGAGGTGCTCCC CAC	PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding		1363		chrX	TogoVar
PPP4R3C_chrX_27455207_27468341	27458843	A A	AGTGGGGA others(30): Show AGTGGGGAGCGCCTCTGCCCAGCCACCCCGTCTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(195): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(6): Show a0001c0001 a0001c0008 a0002c0002 a0002c0004 a0002c0005 a0003c0003 a0003c0011 a0006c0009 a0007c0010	a0001c0001t0001 a0001c0008t0001 a0002c0002t0003 others(8): Show a0001c0001t0001 a0001c0008t0001 a0002c0002t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0010 a0002c0005t0004 a0003c0003t0003 a0003c0011t0003 a0006c0009t0001 a0007c0010t0001	a0001c0001t0001g0000 a0001c0008t0001g0000 a0002c0002t0003g0000 others(8): Show a0001c0001t0001g0000 a0001c0008t0001g0000 a0002c0002t0003g0000 a0002c0004t0002g0000 a0002c0004t0003g0000 a0002c0004t0010g0000 a0002c0005t0004g0000 a0003c0003t0003g0000 a0003c0011t0003g0000 a0006c0009t0001g0000 a0007c0010t0001g0000	198	325	0.6092	37	c.19 others(48): Show c.1954_*1955insCTCCCAGACGGGGTGGCTGGGCAGAGGCGCTCCC CAC	PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding		1363		chrX	TogoVar
PPP4R3C_chrX_27455207_27468341	27458853	G G	GCCTCTGC others(30): Show GCCTCTGCCCAGCCACCCCGTCTGGGAGGTGGGGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG02976.hp1 others(2): Show HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03579.hp1 NA20129.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0000 a0004c0006t0005g0000	5	325	0.0154	37	c.19 others(48): Show c.1944_*1945insTGCTCCCCACCTCCCAGACGGGGTGGCTGGGCAG AGG	PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding		1353		chrX	TogoVar
PPP4R3C_chrX_27455207_27468341	27458890	G G	GCCTCTGC others(30): Show GCCTCTGCCCAGCCACCCCGTCTGGGAGGTGGGGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19077.hp2 NA19002.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	325	0.0062	37	c.19 others(48): Show c.1907_*1908insTGCTCCCCACCTCCCAGACGGGGTGGCTGGGCAG AGG	PPP4R3C	ENSG00000224960.5	transcript	ENST00000412172.4	protein_coding		1316		chrX	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	256	0.0039	37	c.-22 others(48): Show c.-2221_-2220insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2118		chr1	TogoVar
PRAME_chr22_22542701_22564265	22558030	T T	TGGGGAAA others(30): Show TGGGGAAAGGGAGACAGGGTGGGGGAGGGGTGGGCATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0210 a0002c0002t0003g0210	1	399	0.0025	37	c.-11 others(54): Show c.-113-487_-113-451dupCATGCCCACCCCTCCCCCACCCTGTCTC CCTTTCCCC	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding	1/5			chr22	TogoVar
PRC1_chr15_90961040_90999535	90976362	T T	TTGAACTC others(30): Show TTGAACTCCTGACCTCATGATCAAGACCAGGCTGGTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0014 a0001c0001t0022	a0001c0001t0014g0162 a0001c0001t0022g0161 a0001c0001t0014g0162 a0001c0001t0022g0161	2	376	0.0053	37	c.120 others(54): Show c.1203+313_1203+314insGGACCAGCCTGGTCTTGATCATGAGGTC AGGAGTTCA	PRC1	ENSG00000198901.14	transcript	ENST00000394249.8	protein_coding	9/14			chr15	TogoVar
PRC1_chr15_90961040_90999535	90976412	C C	CTCATGAT others(30): Show CTCATGATCAAGACCAGGCTGGTCTTGAACTCCTGACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp2 HG02055.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0180 a0001c0002t0017g0190 a0001c0002t0001g0180 a0001c0002t0017g0190	2	376	0.0053	37	c.120 others(54): Show c.1203+263_1203+264insAGTCAGGAGTTCAAGACCAGCCTGGTCT TGATCATGA	PRC1	ENSG00000198901.14	transcript	ENST00000394249.8	protein_coding	9/14			chr15	TogoVar
PRCP_chr11_82817936_82905430	82841053	A A	AATATATA others(30): Show AATATATATATATATATATATATAAATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0016 a0006c0009t0016	a0006c0009t0016g0117 a0006c0009t0016g0117	1	320	0.0031	37	c.922 others(54): Show c.922-1629_922-1628insATATATATATTATTTATATATATATATA TATATATAT	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	6/8			chr11	TogoVar
PRDM16_chr1_3064203_3443621	3181782	A A	AGTCTTAC others(30): Show AGTCTTACACGCGCAGTCTTACACACGGTCGTCACACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0029 a0001c0001t0001 a0002c0003t0029	a0001c0001t0001g0055 a0002c0003t0029g0106 a0001c0001t0001g0055 a0002c0003t0029g0106	2	210	0.0095	37	c.38- others(52): Show c.38-4334_38-4333insGCGCAGTCTTACACACGGTCGTCACACGGT CTTACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3361837	A A	AGGAGGGC others(30): Show AGGAGGGCAGGTGGTGAGAAGTGACTGTGGCCCAGGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0033 a0001c0001t0086g0033	1	210	0.0048	37	c.439 others(56): Show c.439-23288_439-23252dupTGGCCCAGGAGGGAGGGCAGGTGGTG AGAAGTGACTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDX4_chrX_23662493_23691397	23665838	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	349	0.0029	37	c.-17 others(48): Show c.-1733_-1732insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAG	PRDX4	ENSG00000123131.13	transcript	ENST00000379341.9	protein_coding		1654		chrX	TogoVar
PREP_chr6_105268218_105408082	105371500	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0171 a0001c0004t0008g0171	1	212	0.0047	37	c.595 others(54): Show c.595+1868_595+1869insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	5/14			chr6	TogoVar
PREX1_chr20_48619252_48832999	48706918	C C	CATATTTT others(30): Show CATATTTTTAGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0152 a0004c0004t0001g0152	1	268	0.0037	37	c.783 others(54): Show c.783+1341_783+1342insCCCCCCCCCCCCCCCCCCCCCCCCCCCC TAAAAATAT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	6/39			chr20	TogoVar
PRKCA_chr17_66297613_66815743	66347941	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0147 a0001c0001t0100g0147	1	178	0.0056	37	c.205 others(56): Show c.205+41833_205+41834insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTT others(30): Show TCTTTCTTCTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0037 a0001c0005t0020g0037	1	148	0.0068	37	c.205 others(56): Show c.205+44618_205+44619insTCTTCTCTTTCTTTCTTTCTTTCTTC CTTCCTTCCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2123213	G G	GTGGTTAG others(30): Show GTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	286	0.0035	37	c.335 others(56): Show c.335-12048_335-12047insGGTTAGGGTCGTGGTGGTTAGGGTCA CGGTGGTGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51858053	A A	AATATATA others(30): Show AATATATATACATATTATACATATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp1 HG02965.hp1 HG01123.hp1 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0002t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0003	a0001c0001t0005g0064 a0001c0001t0007g0007 a0001c0002t0003g0014 a0001c0001t0005g0064 a0001c0001t0007g0007 a0001c0002t0003g0014	3	64	0.0469	37	c.699 others(56): Show c.699-49446_699-49445insACATATTATACATATATATAATATAT ATTATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161351051	A A	ATTTTATA others(30): Show ATTTTATATATTTATATTTAAAATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	32	0.0313	37	c.128 others(54): Show c.1286-877_1286-841dupATATATTTATATATATTTTAAATATAAA TATATAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161873982	A A	ATATATTA others(30): Show ATATATTATATGTAAAATATAATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	32	0.0313	37	c.735 others(56): Show c.735-88075_735-88074insATATATATTTTATATATTATATTTTA CATATAATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3685261	A A	ATCCTTCC others(30): Show ATCCTTCCTTTCTCCCTTTTTCCTTCCTCTTCTTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(75): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18966.hp1 NA18973.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0011 a0003c0010 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0060 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0082 a0001c0001t0089 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0109 a0001c0001t0111 a0001c0001t0113 a0001c0001t0122 a0001c0001t0130 a0001c0002t0059 a0001c0005t0019 a0002c0003t0010 a0002c0003t0105 a0002c0003t0112 a0002c0003t0115 a0002c0011t0120 a0003c0010t0008 a0004c0006t0034	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 others(75): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0003g0041 a0001c0001t0003g0062 a0001c0001t0004g0014 a0001c0001t0004g0026 a0001c0001t0004g0104 a0001c0001t0005g0016 a0001c0001t0005g0027 a0001c0001t0005g0091 a0001c0001t0006g0012 a0001c0001t0007g0157 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0009g0006 a0001c0001t0010g0182 a0001c0001t0013g0056 a0001c0001t0014g0020 a0001c0001t0014g0025 a0001c0001t0014g0034 a0001c0001t0016g0137 a0001c0001t0018g0111 a0001c0001t0020g0155 a0001c0001t0023g0158 a0001c0001t0027g0102 a0001c0001t0028g0114 a0001c0001t0029g0166 a0001c0001t0029g0167 a0001c0001t0030g0140 a0001c0001t0031g0121 a0001c0001t0037g0002 a0001c0001t0040g0048 a0001c0001t0043g0052 a0001c0001t0048g0078 a0001c0001t0049g0083 a0001c0001t0050g0049 a0001c0001t0052g0057 a0001c0001t0054g0071 a0001c0001t0056g0090 a0001c0001t0060g0101 a0001c0001t0067g0065 a0001c0001t0068g0063 a0001c0001t0070g0046 a0001c0001t0072g0098 a0001c0001t0075g0087 a0001c0001t0076g0008 a0001c0001t0082g0112 a0001c0001t0089g0152 a0001c0001t0093g0115 a0001c0001t0094g0107 a0001c0001t0096g0138 a0001c0001t0097g0148 a0001c0001t0098g0108 a0001c0001t0109g0177 a0001c0001t0111g0179 a0001c0001t0113g0183 a0001c0001t0122g0175 a0001c0001t0130g0173 a0001c0002t0059g0081 a0001c0005t0019g0106 a0001c0005t0019g0133 a0001c0005t0019g0141 a0002c0003t0010g0188 a0002c0003t0010g0189 a0002c0003t0105g0171 a0002c0003t0112g0208 a0002c0003t0115g0186 a0002c0011t0120g0207 a0003c0010t0008g0178 a0004c0006t0034g0001	78	227	0.3436	37	c.167 others(56): Show c.167-10496_167-10495insAGGAAAGAAGAGGAAGGAAAAAGGGA GAAAGGAAGGA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	1/8			chrX	TogoVar
PROK2_chr3_71766655_71790148	71786018	G G	GCCCCTTA others(30): Show GCCCCTTAAGCCCTAGGTACGCAGCTCTCTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	438	0.0023	37	c.-96 others(46): Show c.-967_-966insGAAAGAAGAGAGAGCTGCGTACCTAGGGCTTAAGGG G	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding		871		chr3	TogoVar
PRPF31_chr19_54110754_54136713	54114783	A A	ACCCCTCC others(30): Show ACCCCTCCTCCCTGAGATCCTAGAATCCAGGCCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03710.hp2 HG02258.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0103 a0001c0009t0001g0089 a0001c0001t0001g0103 a0001c0009t0001g0089	2	227	0.0088	37	c.-10 others(48): Show c.-1023_-1022insCCCCTCCTCCCTGAGATCCTAGAATCCAGGCCCC CAG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		970		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54114789	C C	CCTCCCTG others(30): Show CCTCCCTGAGATCCTAGAATCCAGGCCCCCAGCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp2 others(32): Show HG00099.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02148.hp1 HG02273.hp2 HG02559.hp2 HG02572.hp1 HG02738.hp2 HG02818.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03669.hp2 HG04184.hp1 HG04184.hp2 NA18952.hp1 NA18960.hp2 NA18983.hp2 NA19010.hp2 NA19012.hp1 NA19079.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0008t0001g0029	35	227	0.1542	37	c.-10 others(48): Show c.-1017_-1016insCTCCCTGAGATCCTAGAATCCAGGCCCCCAGCCC CTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		964		chr19	TogoVar
PRPF3_chr1_150316533_150358233	150349281	G G	GAGTGGAG others(30): Show GAGTGGAGCAATGGAATGTAAGATGTAATCAGTGAATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	362	0.0028	37	c.190 others(53): Show c.1905+65_1905+101dupGTGGAGCAATGGAATGTAAGATGTAATCA GTGAATAA	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR12_chr19_49586182_49631439	49620768	A A	AGGGCTGG others(30): Show AGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00642.hp2 others(22): Show HG00408.hp1 HG00423.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02155.hp2 HG02273.hp1 NA18954.hp1 NA18970.hp2 NA18980.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19010.hp2 NA19080.hp1 NA19089.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0004c0011t0002	a0001c0001t0001g0247 a0001c0002t0001g0047 a0001c0002t0001g0154 others(22): Show a0001c0001t0001g0247 a0001c0002t0001g0047 a0001c0002t0001g0154 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0151 a0004c0011t0002g0072	25	322	0.0776	37	c.562 others(54): Show c.5623+317_5623+353dupCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGT	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0038 a0038	a0038c0041 a0038c0041	a0038c0041t0011 a0038c0041t0011	a0038c0041t0011g0078 a0038c0041t0011g0078	1	316	0.0032	37	c.79 others(48): Show c.7922_*7923insATATATATATATATATATATATATATTTTTTTTT TTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA18947.hp2 HG01256.hp2 HG01258.hp1 NA18947.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0002 a0001c0001t0001 a0005c0005t0002	a0001c0001t0001g0080 a0005c0005t0002g0212 a0005c0005t0002g0213 a0001c0001t0001g0080 a0005c0005t0002g0212 a0005c0005t0002g0213	3	216	0.0139	37	c.-51 others(54): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTT	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(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA20129.hp1 NA18949.hp1 NA20129.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0025 a0001c0001 a0024c0025	a0001c0001t0001 a0024c0025t0001 a0001c0001t0001 a0024c0025t0001	a0001c0001t0001g0090 a0024c0025t0001g0034 a0001c0001t0001g0090 a0024c0025t0001g0034	2	216	0.0093	37	c.-51 others(54): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	336	0.0030	37	c.665 others(56): Show c.6651+1236_6651+1237insTATATATATATATATATATATATATA TATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34			chr1	TogoVar
PRUNE2_chr9_76606376_76911114	76774450	C C	CTTTATTT others(30): Show CTTTATTTATTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0035 a0005c0035	a0005c0035t0001 a0005c0035t0001	a0005c0035t0001g0104 a0005c0035t0001g0104	1	240	0.0042	37	c.756 others(56): Show c.756+49181_756+49182insATAAATAAATAAATAAATAAATAAAT AAATAAATAAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TATTTATT others(30): Show TATTTATTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG03195.hp2 others(1): Show HG02572.hp1 HG02922.hp2 HG03195.hp2 NA20752.hp2	a0005 a0007 a0009 others(1): Show a0005 a0007 a0009 a0031	a0005c0005 a0007c0006 a0009c0010 others(1): Show a0005c0005 a0007c0006 a0009c0010 a0031c0050	a0005c0005t0003 a0007c0006t0001 a0009c0010t0004 others(1): Show a0005c0005t0003 a0007c0006t0001 a0009c0010t0004 a0031c0050t0006	a0005c0005t0003g0075 a0007c0006t0001g0186 a0009c0010t0004g0013 others(1): Show a0005c0005t0003g0075 a0007c0006t0001g0186 a0009c0010t0004g0013 a0031c0050t0006g0112	4	240	0.0167	37	c.756 others(56): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAATAAATA AATAAATAAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PSD3_chr8_18522303_19018703	18769687	A A	ATACAGAT others(30): Show ATACAGATTTGCCTATTCAGGACATGTGAAATAAATGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0001 a0010c0034t0001	a0010c0034t0001g0058 a0010c0034t0001g0058	1	228	0.0044	37	c.208 others(56): Show c.2083-4186_2083-4150dupCCATTTATTTCACATGTCCTGAATAG GCAAATCTGTA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	8/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0140	1	378	0.0027	37	c.87+ others(52): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT ATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184335	T T	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01106.hp2 others(41): Show HG00323.hp2 HG00733.hp1 HG01106.hp2 HG01243.hp1 HG01261.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 others(41): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0290 a0001c0001t0007g0370 a0001c0001t0008g0106 a0001c0001t0008g0107 a0001c0001t0008g0122 a0001c0001t0008g0191 a0001c0001t0008g0192 a0001c0001t0026g0289	44	378	0.1164	37	c.481 others(54): Show c.481-2505_481-2504insGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGG	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	430	0.0023	37	c.430 others(54): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSMA6_chr14_35287382_35322493	35288566	A A	AAAAATCA others(30): Show AAAAATCAGGCTTTCAATTTATGTTTGTGTTGAAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	380	0.0026	37	c.-39 others(48): Show c.-3911_-3910insAAAATCAGGCTTTCAATTTATGTTTGTGTTGAAA ATG	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding		3815		chr14	TogoVar
PSMB7_chr9_124348465_124420442	124418327	G G	GGGGGAAG others(30): Show GGGGGAAGGGGCCCAGGGATGGATTCACTTGGACATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	408	0.0025	37	c.-29 others(48): Show c.-2903_-2902insTCATGTCCAAGTGAATCCATCCCTGGGCCCCTTC CCC	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding		2886		chr9	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(30): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG03831.hp1 others(1): Show HG00438.hp2 HG01081.hp1 HG03831.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0002g0052	4	268	0.0149	37	c.571 others(54): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD4_chr1_151249734_151272479	151269895	G G	GCCTCCCA others(30): Show GCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	420	0.0024	37	c.25 others(48): Show c.2552_*2553insCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCA CCA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		2417		chr1	TogoVar
PSME3_chr17_42828397_42848760	42848065	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	264	0.0038	37	c.64 others(48): Show c.6487_*6488insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4306		chr17	TogoVar
PSME4_chr2_53859069_53975993	53940968	T T	TATAATAC others(30): Show TATAATACATATATAAATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG03471.hp2 HG02572.hp1 HG02922.hp2 HG03471.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0018 a0002c0010t0002g0051 a0002c0010t0002g0056 a0002c0010t0002g0018 a0002c0010t0002g0051 a0002c0010t0002g0056	3	384	0.0078	37	c.501 others(52): Show c.501-969_501-968insTTAAATATGTATATATATATATTTATATAT GTATTAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53967649	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAACAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0325 a0001c0005t0001g0325	1	384	0.0026	37	c.242 others(54): Show c.242+2893_242+2894insTTTTTTTTATTTTGTTTTTTTTTTTTTT TTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	326	0.0031	37	c.366 others(54): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT ATATTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	364	0.0028	37	c.905 others(54): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	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(30): Show ATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0036 a0004c0007t0036	a0004c0007t0036g0209 a0004c0007t0036g0209	1	380	0.0026	37	c.-20 others(48): Show c.-2010_-2009insAAAAATATATATATATATATATATATATATATAT ATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0158 a0001c0008t0007g0158	1	380	0.0026	37	c.-20 others(48): Show c.-2010_-2009insAAAAAAAAATATATATATATATATATATATATAT ATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 NA18522.hp1 NA20129.hp1 HG02896.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0008 a0001c0003t0005g0227 a0001c0003t0003g0008 a0001c0003t0005g0227	3	380	0.0079	37	c.-20 others(48): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATATATATAT ATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar

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