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
PNKP_chr19_49856204_49872576	49865428	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG00609.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0102 a0016c0018t0001g0102	1	430	0.0023	0	c.199 others(5): Show c.199-2A>G		PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding	3/16						chr19	TogoVar
POFUT2_chr21_45258935_45292895	45265636	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0143 a0005c0009t0001g0143	1	436	0.0023	0	c.113 others(6): Show c.1137-1G>A		POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	8/8						chr21	TogoVar
POLR3B_chr12_106352748_106515198	106427179	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA19057.hp2 NA19064.hp2 NA19081.hp2 NA20300.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0016 a0001c0001 a0001c0011 a0005c0016	a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 a0005c0016t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0257 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0009g0053 a0001c0011t0001g0162 a0005c0016t0001g0027	58	304	0.1908	1	c.110 others(7): Show c.1102-3dupT		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	12/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
POMK_chr8_43088515_43128434	43097519	TAAAG TAAAG	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant 5_prime_UTR_variant intron_variant	HIGH	HG01192.hp1 HG01884.hp1 HG01884.hp2 others(5): Show HG01192.hp1 HG01884.hp1 HG01884.hp2 HG02896.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0015 a0001c0001t0002g0065 a0001c0001t0002g0066 others(3): Show a0001c0001t0002g0015 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0008t0002g0068	8	276	0.0290	-4	c.-20 others(15): Show c.-209-1_-207delGAAA		POMK	ENSG00000185900.11	transcript	ENST00000331373.10	protein_coding	2/5				6023	INFO_REALIGN_3_PRIME	chr8	TogoVar
POMZP3_chr7_76604986_76632279	76618302	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0028 a0004c0012t0028	a0004c0012t0028g0207 a0004c0012t0028g0207	1	423	0.0024	0	c.228 others(5): Show c.228-2A>G		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6						chr7	TogoVar
POP5_chr12_120573764_120586402	120581256	ACCTGCGG others(23): Show ACCTGCGGCAGGCGAGAGGAAGGTGGACACT	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0019	1	392	0.0026	-30	c.21- others(38): Show c.21-29_21delAGTGTCCACCTTCCTCTCGCCTGCCGCAGG	p.Arg others(3): Show p.Arg7fs	POP5	ENSG00000167272.11	transcript	ENST00000357500.5	protein_coding	2/5	61/1086	21/492	7/163			chr12	TogoVar
POTEC_chr18_14502339_14548600	14513787	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02735.hp1 HG03927.hp1 others(16): Show HG00621.hp1 HG02735.hp1 HG03927.hp1 HG04184.hp1 NA18946.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18974.hp1 NA18983.hp1 NA18991.hp2 NA18993.hp2 NA19004.hp2 NA19009.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp2	a0003 a0012 a0003 a0012	a0003c0004 a0012c0014 a0003c0004 a0012c0014	a0003c0004t0004 a0003c0004t0050 a0003c0004t0051 others(1): Show a0003c0004t0004 a0003c0004t0050 a0003c0004t0051 a0012c0014t0004	a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0020 others(11): Show a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0020 a0003c0004t0004g0231 a0003c0004t0004g0232 a0003c0004t0004g0233 a0003c0004t0004g0235 a0003c0004t0004g0236 a0003c0004t0004g0237 a0003c0004t0004g0238 a0003c0004t0050g0003 a0003c0004t0051g0234 a0012c0014t0004g0019 a0012c0014t0004g0230	19	388	0.0490	0	c.141 others(6): Show c.1410-2A>G		POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10						chr18	TogoVar
PP2D1_chr3_19980346_20017264	19986183	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02572.hp2 HG02622.hp1 others(8): Show HG01884.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0005c0006t0002 a0002c0002t0002 a0005c0006t0002	a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 others(3): Show a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0005c0006t0002g0013 a0005c0006t0002g0178 a0005c0006t0002g0180	11	396	0.0278	0	c.109 others(6): Show c.1091-1G>A		PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding	2/2						chr3	TogoVar
PPEF1_chrX_18702645_18832917	18782354	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	224	0.0045	1	c.726 others(6): Show c.726-3dupT		PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	7/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
PPP1R14A_chr19_38246237_38261374	38252302	TCACCTCG others(54): Show TCACCTCGACAGGTTTCCCACATGACTTCAGGAGTCCCTAAAACCCCCAA CCAAGAACAAAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18949.hp1 NA18949.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0073 a0004c0007t0001g0073	1	426	0.0024	-61	c.283 others(73): Show c.283-25_315+3delTTTTGTTCTTGGTTGGGGGTTTTAGGGACTCCT GAAGTCATGTGGGAAACCTGTCGAGGTG		PPP1R14A	ENSG00000167641.11	transcript	ENST00000301242.9	protein_coding	3/4						chr19	TogoVar
PPP4R3B_chr2_55542292_55622622	55577357	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0352 a0001c0001t0003g0352	1	382	0.0026	0	c.156 others(6): Show c.1565-1G>C		PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	10/16						chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50437479	G G	GTCCC GTCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG01884.hp1 HG02572.hp2 others(4): Show HG00423.hp2 HG01884.hp1 HG02572.hp2 HG03041.hp2 NA18942.hp2 NA19064.hp1 NA19090.hp1	a0004 a0008 a0009 a0004 a0008 a0009	a0004c0009 a0008c0012 a0009c0016 others(1): Show a0004c0009 a0008c0012 a0009c0016 a0009c0030	a0004c0009t0030 a0008c0012t0020 a0009c0016t0008 others(1): Show a0004c0009t0030 a0008c0012t0020 a0009c0016t0008 a0009c0030t0027	a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 others(4): Show a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 a0008c0012t0020g0079 a0009c0016t0008g0221 a0009c0016t0008g0222 a0009c0030t0027g0069	7	340	0.0206	4	c.168 others(17): Show c.1684-6_1684-3dupTCCC		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAMEF4_chr1_12874212_12891201	12875534	CTAGCTAA others(5989): Show CTAGCTAAAATGACAAAACCCTGTCTCTACTAAAAACTGATAATAATAAT AATACAAAAATTAATCAGGTGTGGTGTTGCATGCCTGTAATCCCAGCTAC TCTGGAGGCTGAGACAGGAGCATTGCTGGAATCCTGGAGGCAGAAGTTGC AGTGAACAGAGATCGTACCTCTGCACTCCAGCACGGATGACAGAAGGAGA CTCCATCTCCAAAATAAATAAATAAATAAACTCAAGGCTGGGTGCGGTGG CTCATGCCTATAGGAACTCACTCCCAGCAATTTAGGAGGCCGAGGCAGGT GGATCGCTTGAGCCCAGAATTTCAAGACCAGTCTGGGCAACATGGTGAAG CCTGGTCTTCACTAAGAATACAAAAATAAGTCAGGCATGATGGTGCATGC CTGTTGTTCCAGCTACTAGGGGGACTGAGGCAGGGAGATCACCTGAGCCT AGGAGGTCAAGGCTGCAGTAAGCCGTGATCATGCCACTGCACTCCAATCT GGACAACAGAGTGAGACTTTGTCTCCAAATAAAATAAAATAAAATAAAAT AAAATAAACTCAATATTTTTTAAAACTGTAATGTTTCCTTTCAAAGCTAA AATTGTATTATTCTAAATATATTTTAAAGAAGAAATGATTATTGTTCAGT GTCTTTAAAATTAGTTTTTAAAATCTCATTTGTTTTGACATTTCAAACCA AGTTAAGTATTCTTTTTCTCACCCTCCTTGAGACGGAGTCTTCCTCTTTC ACCCAGGCTGGAGTGCAGTGGTGCATTCTTGGCTCACTGCAACCTTTGCC TCGCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGACTATCTGGGATT ACAGGCACCTGTCACCACGCCAGGCTAATTTTTTGTATTTTTCGTAGAGA CGGGGTTTCATCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGA TCTGCCCACCTCGGCCTCCCAAAGTGCCAGGAATACAGGCATGAACCACC ACACCTGGCCATTAACCATTCTTGAAATATCACGTTGCATTCTTTAAAAG TTCTAATCTTTCATATACATAAATTACAACACAAATATTTATACTCTAAT AGTATTCACATTATAGTAAATTTTTTTTCATGCTCTGTCGCCCAGGCTGG AGTGAAGTGGTGCCATCTCGTCTCATTGCAACCCTCACCTCCCGGGTTCA AGTGATTGTCCTGCCTCAGCCTCCTGAATACCTGGGATTACAGGCGAATG CCACCACTCCCAGCAAATTTTGTGTATTTTTAGTAGAGATGGGGTTTCAC CATGTTGGCCAGGCTGGTCTCAAAATCCTGAGGCTGCCTTGGCCTCCCAA AGTGCTGGGATTAGAGGTGTGAGACACCATGCCCGGCCATAATAATAAAT CTTATTTTATCTTTTTTTTTGAGACGGAGTTTTGCTAGGGTTGCCCAGGC TGGAGTGCAATGGCTCAGTCTGAGCTCACCGCAACCTCCACCTCCAGGTT CAAATGATTCTCCCGCCTCAGCCTATCGAGTAGCTGCAATTACAGACGTG CGCCACCACGCCTGGCTAATTTTTTGTATTTTAAGTAGAGAAGGGTTTTC TTCATGTTGCTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCT GCCTCAGCCTCCCAAAGTGCTGGAATTACAGGTATGACTCACTGCACCTG GCTCATAATAGTACATTTTTAAAAACACCATAAAATATAATCCTTGCAAC ACTCAATTATACCATCTGGTCGGATCTATCAGCAGATGGCACCCGAGACA TACGGATTGGAAATTTTGATCTTATTATGAATGAATCCAGTCCAGAAATG CCCACCCTGCCCCCTGCTGGCTCCTGGGGCTCTGCTCTTTGGGGCAATCA TGATGAAATTGTGGCAGAGAGTAGAAGTTGAGCCCCATTGCATGCCCTGA GTTCTTGTTGCCTCTCTATTATCAGGAAAAGGAGGTGAGATTGAAAGATG AAAAGTGCTGGGACTTCTGCTGAGAAGAGAAAAAAGAACAAGATGTATTG ATCTTACTGTATGCCAGACCCCATGCCAAGCCCTAAACATGAACCATCTC ATTGGATCCTACCAAGGTCCCATAAGCTGTTGGACATCATCATCCTCATT TTACAGGAAGCTGAGGCTCTAGGCTAACATCCCTGACAGCAACACCAGCC CCTGAGTACACAGCAGGATCCTTCACTTGGGTGCCCATTATGCAGAATTC CTCAGCACAGGGAAGGTCACTCATCACCCACAGGCCCTTGATCGTTATCC ACCCTTTGATGCTGTCAGATTCCAGAACACGCTGCACTAGTCTCTTCCTT CATAGGGAGAGAGGGGAGGTGTTATGAGAAAATCTCTCATCAATCTGACC TAGCTCCCCCAAAAGATGTAACTTTTAAAATGTCAGATGGAAATATTTAA AAAGTGTTATATGCCTGTATAGTTTTAGTATTTTACTTAAAGGGAATGTG GCTGTCTTTACTGGCTACAACCAGTTTAATTCAAGAAGGGCTGCTGGTCA TCAGGAGAACAAGCAAGGGTTGATGCTGCCCAGAGTCTCCAGCTAATACA CAATATGGACATCCCCTTCCAGGGCAGCGGGAAGAGAGTGGCTCCTTGTG CAGTGAAGCTGACATCCACCAACTAAGGCTTCTGGAAGCATGTGGAGACT CACAGGGAGTGGGCAGGGTCTCAGCATCTGGATAGCGGTGAAAGACCCTG AGAAGAAGGTGCTTTCCGTGTGGATTGGCTCACTGTTCTTGCCCAGCAAT GTTCCAGGCCTTTGGTGTCCACCTAGTGTGTATTAACCCACTGAACAGCC ACAGAAACTAACAAGGAGTTAACAGACATCTAAAGAAGTGAAGAACTGGA GGAGGCCAAGCCAAGCGTGGTGGTCCACGCCTATACTCCCTGCATTTTGG GAGGCCAAGGCAGGAGAATCACAAGCTCAGGAGTTCCAGATCAGCCTGGG GAAGACAGCGAGGCCTTGTCTCTACTAAAAAGAAGTATCCAGGTGTGGTG GCTCACACAGCTGTAGTCATAGCTACTCAGGAGGCTGAGGTGGGTGGATC GCTTGAACCCCGGAAATTGAGGTTGCAGTGAGGTATGATTGTGCCACTGC ACTGTAGCCTGAGTGACAGGAGACCTTTAAAAAACAAACAAACAAAAAAG CCTGACACAGTGGCTCACACCTGTAACCCCAGCACTTTGGTAGGCCTACT TGCATGAATCACCCAAAGTCAGGAGTTTGAGACCAGCCTGACCAACATAG TGAGGAAACCCTGTCTCTACTAAACATACACAAATTAGCTGGGCATGGTG GTGCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCAT TTAAACCCCAGGTGGAGGTTGCAGTCAGCTCAGATGGCACCATTGCACTC TAAACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCCAATAAAAGAA TGGGAGGAAACTGATTACAATAACCAAATTTCATTTAAATGCCTTGATTT TCTTGGGCTGCATCTTATTGATTGGACAACTCAGTCAGTGCCTTTTGTTT TTTCCATCAATAACTGAAGATTCCTGAGGCTTAAACTGGAAAACAGGTTA CTTAATAATAGAGGGCACCAGACAGATTCTGCTCAGTTTTCCTTTATTTC TGATTGTTTCTTTACAACCATCCATGCAAGAGTAACTCCCTCATGTATTC TCAAGCCTGAATTCCACTCTAGACATTCAGATTCCCATTTTCGACTCTAC AGGACACAGGTCCCCAAAGTCCCATCGAATCCATGGCAACATTTCCCCCA AGTCCGGCCCCTGCTTGATCAGCTTTCCTTTCCCACTTTCAGAGCCTATG TGTGAAATGATGGGTTCTGTGCTCCCTTTAGGATGTACCTAAGACCTAGG TTTTAGTTTCCAAGTGTCCAGAAGAAAGCGTTTGACATACCCATCCAAAT AGGCAGGCATTCAACAGCAGTATTGATCTGCCTCCAGGTCATAAAATGAC CTGTTGCCACAGTCAGGGCAGTAGTCAGTACAGAACAAGATCCTCTTGGG GTGCCTTAAGTCCCTCACTCTGTTCATCAGCTCAGCCCTAATTTGAGCAA ATCTGCTCCAGCAGAGAGTACCATCAGCACCATAACTCTCCCGGGGGGCA GGATACAGCTCCACGCATAAGTTTTTGAGTATGATTGTGTGGCTCAGCAG GTTCTCCAGGGTGGCCATGCAGATGGGATTTCCACAGAAGCTGAAGGTGT TGAGCTCAAAGCAGCGGCTCAGGGCAGGCAAGATGGCGTTGACTTGGGAG TCTATGATGCCACAGTCATCTAAATCCAGGTACTCAAGGGTGGCTGCAAC TTTTTCTAGGAGAATTTGGAGAGGCACAAGACTGTAATTGGTCAGTCTGA TGCCACTCAGGTCCAGGGTCTTTAGTTGACTGATACTCGGGCACTGGGAT AGATGCTTCAAGTCTGATTCCAAAAGCACACAGTTAGTTATTGTGAGGAA CTTTAACGAGGTCTTCAGACAGCTGGGGAGAGAGAGCAAGAAGTTAATTC TGGGGAATCATAGGGGTGAGTGGAGGGTGGTGGGGAATGGCTTCAAGGTA ATGGATGGAGACCTTTTTGCCCAAGTCCAGGGTCATTCTGATGGCCTGAT GGTCAACACTTAGGATGATGTGTGATGAAGAGCTTTGCCACCGAGGTCAA TTCCACTTTAGACCCGGCCCAGTAACTCACACCTGTAATCCCAGCACTTT GGGAGGCTGAGACTGGTGGATTCCTTGAGATCAGGAGTTTGAGACCAGCC TGCTGAACATGGCAAAACCTCCTCTCTACTAAAAATCCAAAAATTAGCCA GGTGTGGTGGGGGGAGCCTGCAATTCCAGCTACTTGGGAAGCTGAGGCAG AAGAATCGCTTGAACCCAGGAGGTGTAGGTTGCAGTGAGCAGAGATCATG CCACTACACTCCAGCCTGGGTGACAGAGAGAGACTCTGTATTAAAAAAAA AAAAGGAGAAAAAATAATTCCATTTGAGGCTGAGTCACTTCACCATCATT TATAGGAATGGATCAAGTTCACAGAATCCCTAAAGCTCCCTTTCCTCATC TGTCAGGCAGAAAACCACATCCCTGGGCCACAGGAGCCCAGTGGAGATTC AGGCATAAAGGACAAACCCAGACAGGATCCTGCAACATCAGCTACGGTGG GCGGGCTGCAGGCGTCCCTGACATGCCTGTATCATCAGCAAACCATCTAT CACTTTCACCATTCTTTGTGCCTGCACCCTGACCCTCTGTTTCAGAATCA TGCATTGCCTAGATAATTAATTTACCTGGAGCTCAAAAGAAACTTTTACA ACAGGGAATTAGAGATGGGATCATTCATGTTCACCAAACTGTGGGGCACA AAGCTGATTTTCTGACAAGTGCAGGTTTGCTGAACATTCCCCTCTTCAGT GCCCACTTCACTTCCCTACTTCACATCATCTTCTTAAAAATTATCTTGTT GGCTGGGCGTGGTAGCTCTCGCCTATAATCCCAGCACTTTGGGAGTCCAT GGTGGGTGGATCACCTGAAGTCAGGAGTTGGAGAATAACCTGGCCAACAT GGTGAAACCCTGTCTCTACTTAAAATATAAAAATTAGCCAGGTGTGGTGG CTCACGCCTGTAATCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCGCA TGAACCTGGGAGGCAGAAGTTGCTGCGAGCTGAGATGTCACAACTGCACT GTAGCCTAGACGATCAAAGAGAAACTCCATCTCAGAAAAAAAAAGTTATC TTGTTTGTTTTTACTTTTGTTTATTCATTTCTGACAGGGGTCTTGGTATG TTAGCCAGACTGGTCTTAAACTCCTAGGCTCAAGCTATCCTCTTGCCTCA GACTCCCAAAGTGATAGGATTACAGGCATGAGCCACCGCCCCTGGCG	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show HG01891.hp2 HG02615.hp1 HG02622.hp2 HG03225.hp2 NA18906.hp2	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0005 a0000c0007t0005	a0000c0007t0005g0010 a0000c0007t0005g0074 a0000c0007t0005g0010 a0000c0007t0005g0074	5	324	0.0154	-5996	c.875 others(13): Show c.875+324_*4009del		PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	4/4						chr1	TogoVar
PRAMEF5_chr1_13249198_13268435	13260220	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03139.hp1 HG03139.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0048 a0021c0015t0008g0048	1	142	0.0070	0	c.288 others(5): Show c.288-2A>T		PRAMEF5	ENSG00000270601.5	transcript	ENST00000622421.3	protein_coding	2/3						chr1	TogoVar
PRB3_chr12_11260914_11274707	11268099	GGTACGTT others(53): Show GGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTC CTGGAGGAGGT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02809.hp1 HG03579.hp1 HG01891.hp2 HG02809.hp1 HG03579.hp1	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0002 a0000c0014t0002	a0000c0014t0002g0018 a0000c0014t0002g0018	3	443	0.0068	-60	c.101 others(70): Show c.101-11_149delACCTCCTCCAGGAAAGCCAGAAGGACGACGCCCAC AAGGAGGAAACCAGCCCCAACGTAC	p.Gly others(4): Show p.Gly34fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	187/1227	101/1056	34/351			chr12	TogoVar
PRDM7_chr16_90051566_90082331	90064602	CGGGGTTT others(6131): Show CGGGGTTTCGCTAGTTTGGCCAGGCTGGTCTAGAACTCCTCACCTCAAGT GATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATATGTAAGAGCCC CCGCACCCAGCCCATGCTAATTCTTTTTTTTTTTTGAGAGGGAGTCTCAC TCTGTTGCCTAAGCTGGAGTGCAGTGGCACGATCTCAGCTAACTGCAGCC TCCATCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGTT GGGATTACAGGTGTCCACCACCATGCCCAGCTGATTTTTGTAGTTTTAGT AGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCT CAGGTAATCTGCCCACCTCTGCCTCTCAAAGTGCTGGGATTACAGGTGTG AGCCACTGCCTCCGGCACTAATTCTTAATATTGTAGTGAACATGAAAGAT AATAATGTTCACCAAAGTGTTTTTTGAGCTACTTAATACAGTATGAATGT GAGATTAATAATTATTCTCGCCAGGCACAGTGGCTCACACCTGTAATCCC AGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAATTTGA GACCAGTCTGGCCAACCCTGTCTCTACAAAAAATACAAAAAACTAGCCGG GTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGG AGAACAACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTGAAAAAAAA AAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAATAATTTTTCTCAC AGACTGGGTGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCA AGGTAGTAGGATGGCTTGAGCCCAGGAGTTCAAGACCAGCCTGAGCTACA CGGCAAAACCCTGCCTGTACAAAACACATAAAAATTAGCTGGGCATGGTG GTGCATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCAC ACTAACCTAGGAGATGGAGGCTGCAGTAAGCCGAGATTGAGCCATTGCAC TGCAGCCTTGGCGCAAGAGCCAGACTCTGTCTCAAACTACCCCCTGCCCC TGTAGAAAAATAACAAACGAAAATTATCTCATAGTCCTGATATATCTCTA CAGTTGAAATCTAACTCAAAGATATTTTCAGCATTCCTTGACCCTGTTAC TTATAGTTTAATTCATAAGCTTGGAATCAATCATTCAGAAAACACTCAGG AGGCTCTCAGAGGCCCTGAGCTGGGCTTGGGAGTTCTAAGAAGAATCAGG AAGGGACTAGACTCCTGAAGAGCTCACAATGAAGAGGCAGCAGGCAGGCT AAACAAATAATTCCAAATAACATGACAGTTCCCTAATTGGAGCCCAGAGG AAGGAGCTGTTACTGCCTTCTACAGGAATGAGCATTTGAAATTGGTTCCA GAAGAATATATTTTTACTTAATAGGGTGTAACCTATATGAAGTCCTAAAC CATTTTCTTATTTGTTGTTTCTCAATCTTCGAACCTGAAACCCTTCAGGG CTGGAAGCTGCTTCCTCTGATCAGAATGGGTCCCTTATGAGGGTAGGGAC CCTATCTTCTTCTGGTACCATCCACAGTATGAATTGTCTATTTACTTGGA AGCTTCCCTTAATCAGAGTGTTTTAGTGCAAATCTGACTTTACTACAACA GAGAAAAACTGAGGTTGAAAAATCAATTGGACGAATGATGTAAAGACATA TGGGTAAGACAGCATAAACTTTATAAAACTATGAAACTTTTAATGATCTT GTAAGTGCTTTAGAGAAGGAGTTTTGGATTAGACTGCACCAACACTGAAT GTGATCCCAGGGATATAACTGAACATTTTTATACCTCAGTTTCCTAACCT GTAAAATGGCTATAGTTATAGTACCTACTTAATAGGTACTATATGTGAAG TTGAATAGGTACTATATGTAAAGTTTATTCATGTAAAATGCTTAAAAAAG TCTGAAAATACTGAGAAAATAACCCATGGTAGCGATTATTGTTGCTGTTC TTATTAACTCTTAAAATAATGATGATGGCAGACACTGCGCTAAAGAGATC AGGAGAGGAAGGCAGTAGTTCCTAGGATAGTCTGTACATTCTCCTTCTCT TACCTGTATTTGGATCTATGAGGAAGGTTTCTTGTCAACAGGATTTGGGA GATACTTACCTTCTGGTGTTTACTCTGTTCTCCTCTGAAGGCCATCCAAG GAGGTTTGACTAAGAGGTGATGAGAAATCAGTGGTTTGGTTGGTAAATGT TTCCAAACTCTAGAGATTTTTTTTTCTTTTTGATATGGAGTCTCCCTCTG TCGCCCAGGCTGGAGTGCAGTGGCACAATCTCCCCTCACTGCAACCTCCG CCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTTGTGAGTTGTTGGGA ACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGCATTTTTAGTAGA GATGGGGTTTCTCCATGTTGGCGATGCTGGTCTCGAACTCCTGACCTTAG GTGATCCACCTGCCTCGGACTCCCAAAGTGCTGAGATTACAGGCGTGAGC CACTATGCTTGGCCTAACTCTGGAGTTTCTCATTAGAGACAGAGAATTCT GAATCAGAGAGTGATGATTCCAAGTATTATCCAAGGGCAATTTGGAAATG TTTTCTGAAGTATCATTAAGGCCTATGCTTCTATTGGGGGCATTGCTAAT TTTCTTAAGATTTAAAAAAATAGATAAAACTTCATCTTTGTTTCAGCCTA TCTGTAAAGGTATACCTAATAAGGTGTTTATTACATTAATTTTTAAAACG TAAATTGACCTTTCATGACAAACACACTGAACAAACTAGGAATAGAAGGA AATCACCTCGACGTAAAAAGGTCATATAAGAAAAGCCCTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGGGGC GCGAGGTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAGGCCATTCTCC TGCCTTAGCCTCCTGAGTAGCTGGGACTGCAGGTGCCTGCCACCACGCCC AGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGGTCTCCTGACCTTGTGATCCTCCCACCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCGAAAAGCCAAAT TTTTAACATCATAGTCGATGATGAAAAACTGAAAGCCTTCCTTCTAAGGT CATAAACAAGGTAAGGATTTCCAGTCTTGCTACTTCTAGTCAACATAGTC CTGTAAGTCGTAGCCTGAGCAATTAGGCCAGTAAAATAAATAAAAGGCAT CCAAATGGAAAGGAAGAAGTAAAATTATCTCTGTTTGCAGATGACATGAT CTTACATGCAGAAAACTATAATGATTCATTAGCTGGGCATGGTGGCGGGC ACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAT CTGGGAGGCAGAGGTTGCAGTGAACCGAGATCATGCTACTGCACTCCAGC TTGGGCGACAGAGCGAGACTCCATCTAAAAAAATAAATAAAAATAAAAAA TAAAACTATAAAGATTTTACCAAAAAATTGTTAGAAGTAATACACGAATT TGGGCTGGGCATGGTGGCTCAAGCCTATAATCCCAGCACTTTAGGAGGCA GAGGTGGGGGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTG ACGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATGGC ATGAACCTTGGAAGTGGAGCTTGTAGTGAGCCGATATCATGCCACTGCAC TCCAGCCTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AGAAGTAATACATGAATTCAGCATACAAAAGCAACACCCCAAATCAGTTG TGTTTCTATTTAGTAAAAATGAGCAATCCAAAAAGGAAATTAAGAAAAAA ATCCCAATCACAATAGCATCAAAAAGAATAGAATAATTAGGAATAAACTT AACCAAGGAGGCAAAAACTTGAACACTGAAAACTACAAAACAGTGCCGAC AGAAATTTAAGGAGACACAAATAGATGGAAGACATCCTGTGTTCGTGGAT TTGAAGACTTAATATTGTTAACATGTTCATACTATCAAAATGATTTATAG ATTCAATGTCCTGTCTATCAAAATGCCAATGCTATTATTTTCAGAAATGG AAAAATATCCAAAAAATCATATAGAATCTCTAAGGACCCAGAATAGCCGA AACAATCTTGAAAAAGAAGGATAAAGTTGAAGGCCTCACACTTCCTGATT TCAAAGCATATTACAAAGCTACAGTAATCAGAAAAGTATGGTACTGGTAT AAAGACAGACCTATAGACCAATGGAACAGAATAGAGAGGCCAGAAATAAA CCCTCGTGTATATGGTCAAATGATCTTCAGCAATGATGCCAAGACTACAC AATGGAGGAAAGGACAGTCTGCAAGAAATTGTGTTGGGAAAACTGGATAT ACATATGCAAAAGAGAAGACAGACTCTTACCACATATCTCATATAAAAAT TAACTCAAAATAGATTAAAGACTGAAATGTAAGGTCTATAAGTACAGAAC TTCAAGAAGAAAACACAGAGGAAAAGCTTCATGACATTGAAATGAACAAT AACTTCTTGTATATGACACCAAAAGCATAAGCAATAAAAGCAAAAATAGA CAAGTAGGACTACATCAAACTTAAAAACTTCTGTGTAGCAAAGAAAACAA TCAACACAGTGTCAAGGCATCCTACAGAGTGGAAGAAAATATATGCAAAC CATGTATCTGATAAAGGGTTAATGTTGCTGAGTGCAGTGGCACATGACTA TAGTTCAGCTATTCAGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAG TTCGAGACCAGCCAGGGCAACATAGTGAGACCTCTGTCTCAAAAAAAAGA AGATAAAGAGTTAATATCCAGGCCAGGCACTGTGGCTCATGGGTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGTCAGGAGTTC ATGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAG AAGATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGAATAATCGCTGGAACCTGGGATGGGGAGGTGGTAGTGAG CTGAGATCACGCCATTGCACTCCAGCCGGGGTGACAAGAGCGAAACTCTG TCTGAAAAAAAAAAACAAAAAACAAAAAAACGAAGAAAGAGTTAATATCC AGAATATATGAAGAACTCCTATAATACAACAACAAAACAAATAATTAAAT AATGGGTGCTATGGGCTGAATTTTGTTTCCCCCAAATTCATATGCTGAAG CACATTTAATACCTCAATATGATGGTATTTAAAGATGGAGCCACTGGTAG GTAATTAGGGCTAGGTGATGTCATGAGGGTGGGACCCTTAGGATGACATT AGTGCTTTTGGTTGGGTGCGGTGTCTCATGCCTGTAATCCCAGCACTTTG GGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCT GGTCAGCATGGTAAAACCCCATCTCCACTGAAAATACAAAAATTAGCTGA TGTGCCCCTGTAGTCCCAGCTATGTGGGGGGCTGAGGCAGGAGAATTGCT TGAACCCGGGAGGTGGAGTTTGCAGTGAGCCGAGATTGCACCACTGAACT CCAGCCTGTGGCAACAGAATGAGGCTGTCTAAAAAAAAATCTTCTAGTAG GTATTATTGCTTTTATAAGAGGAAGAGAGAAATTTCTTCTCCTTCCTGCT GTTGGCACACAAATAATTCATGTAAATACACAGTGAGCTGGAGGCTGACT ACAAGTCAGGAAGAGAGCCCTCACTGGAACCCAACCATG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show HG00099.hp2 HG02145.hp2 HG02280.hp2 HG02970.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0010 a0006c0006 a0006c0010	a0006c0006t0003 a0006c0006t0011 a0006c0006t0022 others(1): Show a0006c0006t0003 a0006c0006t0011 a0006c0006t0022 a0006c0010t0003	a0006c0006t0003g0107 a0006c0006t0003g0109 a0006c0006t0003g0196 others(5): Show a0006c0006t0003g0107 a0006c0006t0003g0109 a0006c0006t0003g0196 a0006c0006t0003g0197 a0006c0006t0011g0108 a0006c0006t0022g0043 a0006c0010t0003g0198 a0006c0010t0003g0199	9	392	0.0230	-6138	c.302 others(16): Show c.302-3830_352-835del		PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding	5/11						chr16	TogoVar
PRL_chr6_22282246_22302036	22290354	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	446	0.0022	0	c.313 others(5): Show c.313-1G>C		PRL	ENSG00000172179.13	transcript	ENST00000306482.2	protein_coding	3/4						chr6	TogoVar
PRODH2_chr19_35794988_35817845	35807122	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	428	0.0023	0	c.598 others(5): Show c.598-1G>A		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9						chr19	TogoVar
PRPF3_chr1_150316533_150358233	150324880	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00639.hp2 HG00733.hp1 others(49): Show HG00438.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp1 NA18953.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0022 others(48): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0327 a0001c0001t0001g0330	52	362	0.1437	3	c.-48 others(14): Show c.-48-5_-48-3dupTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF3_chr1_150316533_150358233	150324880	C C	CTTTT CTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(297): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0004g0160 a0001c0001t0005g0322 a0001c0001t0006g0158 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0006t0001g0193 a0001c0007t0001g0258 a0002c0005t0001g0149	306	362	0.8453	4	c.-48 others(15): Show c.-48-6_-48-3dupTTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPH_chr12_49290147_49303686	49297147	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	382	0.0026	0	c.871 others(5): Show c.871-1G>A		PRPH	ENSG00000135406.15	transcript	ENST00000257860.9	protein_coding	4/8						chr12	TogoVar
PRPH_chr12_49290147_49303686	49297957	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18961.hp1 NA18961.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0015 a0008c0009t0001g0015	1	382	0.0026	0	c.126 others(6): Show c.1268-1G>C		PRPH	ENSG00000135406.15	transcript	ENST00000257860.9	protein_coding	7/8						chr12	TogoVar
PRRC1_chr5_127512640_127560085	127528976	CATTGTAC others(3191): Show CATTGTACTAACGTGTACTGAGGTGGGGATGTGGAACATTCAGTGATAAG TAAGATAGGACAGTTCAAGTCTGCATTTATAAATGTATATCAGTATTTAG TTGTGTAAGTTGTATAAGCTGGCTGATTTTTCTTTTAAATTTTTCTTTAC TCATCTTTCCCAATTTTTTTTGCAATGAATTTTGAAATCATTCTGCCAAG TTCCAATATTCTGCTAAGGGTTTGTTTGCAATTTTATTATTATAATTATA ATTTATTATTATATTAAAGATTTAAAATTGGTAGATGATTGGCTGATTTG TAGTATTTGAGCTTCATGTTTCAGGAATGTGGCATTTTTCTAAGCTTGTT TATTTTTTAATACCCCTCTGTACTTTTTTAAAAAGTTTTTTTTTGCATAC AGACTACAACATTTTGTCCCTCGTTAAGAGCATGTGTCAGTGTGTTTGTC ATGAGTTGTAATACCCAGTTCAACTCTATAGGTCTTGTAAATAGTAAGTC ATGATGTTTCAGCATATGGTTGGTTGGCAGTCTTAAATTTCAATTTTATG AACTCATCTTTTCCTGAGTCACCTTAGTTTAATGGCAGATTGGAAGATGG GGAATCATGGCAGGTTAGTCAGATGCCATCTCAGGAGGCACTGCTCCCTG GAGTGTCTTTTACCCTTTGTGAAGTATCGCACAAGAAGGAATACTCAAGA CTTGGTTCCTTTTAGTAGTAACGGCTCTAAGAATCCAGAGGAATAGATCT GAATATAAATGGCGAGTTTGGGAATGTACAAAACAAGAAACAAGAAGTAG GAAAAAGAAGAAACTAGTAGAAGATAGCAAAATGTTGTACGTTAAGGTAA TAAGTAACTGTTCTGCCCCCAGACGAGAGGTGTTTTTACTCTTTTTATTT TTTTTATTAGGGAACAAGTATGGACTTACGTAGACACCTGATTGGGACCT TTATTTGGGACCCTAAGGGACAAGTTTTGCCCAATCTTTTATATAAATAA GTAGAAGTGAAATTATATATATGTATATACACACACATATATATGTATAT ATAGTATAGCATCCTTTCCATACCCATGCTACTCAAAGCGTGATCTGTAG ATTGCTGCTGGTCTACACACTGCTGAGTCAGGAAAAAAAATTGAGAGTAT CATTTAGAAACTTAATAGCAATTTGATATTGTCATGACCTTATATATCTT ACAAAAGTACTGGTTTAGGATGCATTGGAAACTTTTAAAAAAGTTTTCTT CACAATCATGAAGATCATGGTGTTCCTCACTTAGAGTGAATACTTACATA TTGATTTGTTTTATGCAGGGTGTGGCTGGGAATCCTATGGTGAAGTCTGT GCTTGATAAGACAAAACATTCAGTAGAAAGCATGATTACAACGCTGGACC CTGGCATGGCTCCCTATATCAGTATGTACATAAGTTAGACCGGTATCTGC CATTTTTTTTTTAAGGGTATGTCCACATCAGCCACTAATTGTAATTCTCT GTTCGTTTCCACTGATTGTGTAATCAGTGGAAATTCTTATTATATTCTTG CATTAATTTAATTGTCAGTCTTATTTTTTGGTGTTACTAATTCATCTTTT TTAAAAGTCATTAAATAAATTTTGAAAATCCCACAGAATGATCCTAGAAG GAGTAAAAACCATGAATTATTGGTATACTTGCTGATTTTAATTTTAAATA TAGGTTAGCATTGCTTTATATGAATTTTACTTTATTCACTACTGACATTT GAAGTGATGTTTGTTTCATACTTTTTTTTTTTTTTACATTTCTCCTGTTA TCTATTTTAATTAAATGTTTGTGTGTAATTGAGGGATAATATTTTTGGAG GAAGCAAATCTAGTTAATAATATCTAATGACTGGGTATATTGGGAAAGCT ATTTTTAACCACCTCTGAACACTAATCATCCAGAATCATCCAGACAGTTG ATAGATACTGTCTGCTATTTAATTTTTATGTACATATCCAATATGTGAAA AAATATCACAAGGCTTAGTGACCAATTATTAGTAATTCTGTAAAAGATAA CTTTTAAGTCAAAATTGTGCAGCAGGTACCTGAACAGCGATTTCAGTGGC AATAAAAAGCCAATAGCTTTCACAAGTCTTGACTATGTTGGTAGTTTACT GTCTAGTAAATATCAAAAGATAAGGCCTAGCAATTGTTAAGTGTCTTTAT TGAATGCTTCTGCCAGGCACTTTCTCATAAGAGCTCTGCAAGGTAGGTAT TTTCCTCAAGTTTTGGACGAGGAATCTAGGTTTGGAGGGATGTAAGTTAT CACCCTAGATCACACAACTTGGTGGAGCTGTATTGAACTCATGCTCAATT TTTTTACACTTAGCCACTTTGCTTCCCTTGTAGTAGAAAATTGAATCAAG CATTAAATCAACTGAGTTGTTCTTTGTGTTTGTAACTGTCCAAAGAATTC AAAATTGGAGTCCACCATATATGTTCTTTTCTTTGCAAGTACATATTTTG AATGAAGGAAAAAAAGGAATTAATATTTTTGGAGCTTTTGCTGTTTTAAT GGCTGTACTATGTTAGACTATGAAAGCAATTACCTTATTTAATCCTTAGA GCAAACCCTATGAGGTGCCAGGTGTTTTTATTCTTCTTCTTCTTTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGACTGGAGT GCAGTGGCGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGT TATTCTTATGTCTCAGTCTTCTGAGTAGCTGGGACTACAGCCGTGTGCCA CCACGCCCAGCTAATTTTTGGTAGAGACGGGGTTTCTCCATGTTGGCCAG GCTGGATAGCAGGCATTTTTCTACAAAGAAACAAGCTCAGTGACTTCCAC AAGGTAAAGAAGCTAGTAAATGATAAAGGTAGAGCCATCAAGAAAAATGT GTAACACCGAAGGGGAAAAAAGAAAGGTACAGAAATGAAATTTCTATTAT TAGCAAATGTCATAACTTTATCAGCTTTAAAAAGTAATAAAATCGAATTT AAGAAAGCTGACATCTTTACTGACAGCAAAGCATCACCATTCTGATCTAA CAAAACAACTCAAAGTAAATCTTAAGGTTTTTTTTTTTGTTGTTTTTTTT TTGAGGTGGAGTCTCACTCTACCGCCAGGCTGGAGTGCAGTGGTGCAAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02293.hp2 HG02293.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0120 a0006c0010t0001g0120	1	340	0.0029	-3198	c.655 others(17): Show c.655-1317_758-1449del		PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding	5/9						chr5	TogoVar
PRRG2_chr19_49576316_49596004	49590370	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02818.hp2 HG02970.hp2 HG02818.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0084 a0002c0002t0002g0072 a0002c0002t0002g0084	2	346	0.0058	0	c.591 others(5): Show c.591-1G>A		PRRG2	ENSG00000126460.11	transcript	ENST00000246794.10	protein_coding	6/6						chr19	TogoVar
PSG4_chr19_43187702_43210638	43204252	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19060.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0002 a0014 a0018 others(1): Show a0002 a0014 a0018 a0019	a0002c0002 a0014c0020 a0018c0038 others(1): Show a0002c0002 a0014c0020 a0018c0038 a0019c0037	a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0014c0020t0003 a0018c0038t0006 a0019c0037t0003	a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0162 others(22): Show a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0174 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0006g0171 a0002c0002t0006g0173 a0002c0002t0006g0175 a0002c0002t0017g0165 a0002c0002t0018g0172 a0014c0020t0003g0041 a0018c0038t0006g0183 a0019c0037t0003g0169	42	300	0.1400	0	c.65- others(4): Show c.65-1G>A		PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5						chr19	TogoVar
PSMB10_chr16_67929506_67941850	67934906	CGGCGGTG others(86): Show CGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGT GATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0013 a0003c0006t0001g0013	1	304	0.0033	-93	c.559 others(103): Show c.559-51_600delTAAGTTAACAGCAGAGAGAGCCCGTTAGGTCTCAC ACACCCATCACCGCAGCTGGAGGCTGCTCAGGGGCTGCTGGTGGAAGCCG TCACCGCC	p.Leu others(13): Show p.Leu187_Gly201del	PSMB10	ENSG00000205220.12	transcript	ENST00000358514.9	protein_coding	7/8	701/977	559/822	187/273			chr16	TogoVar
PSMG3_chr7_1562332_1575032	1567851	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	368	0.0027	0	c.217 others(5): Show c.217-1G>A		PSMG3	ENSG00000157778.9	transcript	ENST00000288607.3	protein_coding	1/1						chr7	TogoVar
PSRC1_chr1_109274556_109288145	109282738	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG02257.hp2 HG02258.hp1 others(6): Show HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02818.hp2 HG02970.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	9	438	0.0206	0	c.-38 others(5): Show c.-38-2A>G		PSRC1	ENSG00000134222.16	transcript	ENST00000369909.7	protein_coding	1/7						chr1	TogoVar
PTCD3_chr2_86101235_86147157	86111112	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	398	0.0025	0	c.195 others(5): Show c.195-1G>A		PTCD3	ENSG00000132300.19	transcript	ENST00000254630.12	protein_coding	3/23						chr2	TogoVar
PTEN_chr10_87858625_87976930	87960876	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01175.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG02970.hp1 HG03486.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19059.hp2 NA19066.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0084 a0001c0001t0099	a0001c0001t0002g0009 a0001c0001t0002g0144 a0001c0001t0002g0211 others(84): Show a0001c0001t0002g0009 a0001c0001t0002g0144 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0004g0009 a0001c0001t0004g0210 a0001c0001t0004g0212 a0001c0001t0004g0223 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0238 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0273 a0001c0001t0004g0277 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0006g0101 a0001c0001t0009g0102 a0001c0001t0009g0119 a0001c0001t0010g0124 a0001c0001t0011g0235 a0001c0001t0011g0267 a0001c0001t0011g0268 a0001c0001t0015g0108 a0001c0001t0015g0109 a0001c0001t0015g0110 a0001c0001t0015g0112 a0001c0001t0016g0215 a0001c0001t0016g0276 a0001c0001t0016g0289 a0001c0001t0017g0229 a0001c0001t0017g0239 a0001c0001t0017g0255 a0001c0001t0018g0259 a0001c0001t0018g0262 a0001c0001t0018g0263 a0001c0001t0019g0260 a0001c0001t0019g0261 a0001c0001t0019g0284 a0001c0001t0023g0111 a0001c0001t0023g0113 a0001c0001t0023g0114 a0001c0001t0038g0246 a0001c0001t0039g0265 a0001c0001t0043g0270 a0001c0001t0044g0253 a0001c0001t0045g0283 a0001c0001t0046g0237 a0001c0001t0047g0241 a0001c0001t0048g0221 a0001c0001t0049g0264 a0001c0001t0050g0245 a0001c0001t0051g0294 a0001c0001t0052g0236 a0001c0001t0053g0274 a0001c0001t0054g0216 a0001c0001t0055g0285 a0001c0001t0056g0269 a0001c0001t0084g0194 a0001c0001t0099g0209	87	322	0.2702	1	c.802 others(6): Show c.802-3dupT		PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN20_chr10_46906428_47007322	46999718	TGCTTTCT others(223): Show TGCTTTCTCCTGAAAACCTATTAAAATAGTCTTCCTTATCCATTGGGCTA AGTTAAAAATAGCACATTTTCTTGTGAGTGAAAATGAGATCTTTCTGATT AAATCTTGACATCTCTTTCACCCTTTTTGGCAATCTGTGAATTTGTGTTT TTCCCCCATGTGGATCATACAAAATTACTGTCATCTTATTACAGTTCAAC ATCATGGATATAGTGGCCCAAATGAGAGAAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0010 a0008c0008t0010	a0008c0008t0010g0199 a0008c0008t0010g0199	1	312	0.0032	-230	c.113 others(13): Show c.1135-193_1171del	p.Phe others(5): Show p.Phe379fs	PTPN20	ENSG00000204179.11	transcript	ENST00000374339.5	protein_coding	10/11		1135/1263	379/420			chr10	TogoVar
PTPN23_chr3_47376021_47418435	47412512	AGCTGCAC others(11): Show AGCTGCACCTCAGGTTCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0133 a0002c0033t0001g0133	1	332	0.0030	-18	c.431 others(29): Show c.4318-1_4334delGCTGCACCTCAGGTTCTG	p.His others(6): Show p.His1441fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	24/25		4318/4911	1440/1636			chr3	TogoVar
PTPN4_chr2_119754922_119989899	119956825	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp2 HG02109.hp2 others(8): Show HG01243.hp2 HG01891.hp2 HG02109.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0002c0002t0016 others(1): Show a0001c0001t0002 a0002c0002t0004 a0002c0002t0016 a0002c0002t0035	a0001c0001t0002g0234 a0002c0002t0004g0241 a0002c0002t0004g0243 others(8): Show a0001c0001t0002g0234 a0002c0002t0004g0241 a0002c0002t0004g0243 a0002c0002t0004g0244 a0002c0002t0004g0245 a0002c0002t0004g0247 a0002c0002t0004g0248 a0002c0002t0004g0249 a0002c0002t0016g0242 a0002c0002t0016g0246 a0002c0002t0035g0250	11	252	0.0437	1	c.198 others(7): Show c.1981-3dupT		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRH_chr19_55176247_55214501	55207200	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19010.hp1 NA19010.hp1	a0023 a0023	a0023c0046 a0023c0046	a0023c0046t0007 a0023c0046t0007	a0023c0046t0007g0182 a0023c0046t0007g0182	1	378	0.0027	0	c.52- others(4): Show c.52-1G>T		PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19						chr19	TogoVar
PTPRQ_chr12_80439235_80685273	80484408	T T	TTTTC TTTTC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show HG00438.hp1 HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG02148.hp1 HG02717.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18977.hp2 NA18984.hp2 NA18991.hp1 NA19076.hp1 NA19080.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2	a0003 a0005 a0009 others(14): Show a0003 a0005 a0009 a0010 a0014 a0015 a0016 a0025 a0028 a0030 a0031 a0032 a0033 a0034 a0047 a0048 a0054	a0003c0003 a0003c0079 a0005c0004 others(16): Show a0003c0003 a0003c0079 a0005c0004 a0009c0017 a0009c0069 a0010c0007 a0014c0012 a0015c0020 a0016c0027 a0025c0080 a0028c0067 a0030c0074 a0031c0072 a0032c0071 a0033c0070 a0034c0073 a0047c0039 a0048c0038 a0054c0046	a0003c0003t0001 a0003c0003t0002 a0003c0079t0001 others(20): Show a0003c0003t0001 a0003c0003t0002 a0003c0079t0001 a0005c0004t0005 a0009c0017t0002 a0009c0017t0004 a0009c0069t0005 a0010c0007t0002 a0010c0007t0004 a0014c0012t0001 a0015c0020t0001 a0016c0027t0001 a0016c0027t0004 a0025c0080t0003 a0028c0067t0002 a0030c0074t0002 a0031c0072t0002 a0032c0071t0003 a0033c0070t0001 a0034c0073t0003 a0047c0039t0003 a0048c0038t0004 a0054c0046t0003	a0003c0003t0001g0105 a0003c0003t0001g0107 a0003c0003t0002g0104 others(31): Show a0003c0003t0001g0105 a0003c0003t0001g0107 a0003c0003t0002g0104 a0003c0003t0002g0106 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0079t0001g0111 a0005c0004t0005g0091 a0009c0017t0002g0093 a0009c0017t0002g0100 a0009c0017t0004g0098 a0009c0069t0005g0092 a0010c0007t0002g0168 a0010c0007t0002g0169 a0010c0007t0002g0170 a0010c0007t0004g0164 a0014c0012t0001g0047 a0014c0012t0001g0067 a0014c0012t0001g0086 a0015c0020t0001g0090 a0016c0027t0001g0097 a0016c0027t0004g0095 a0025c0080t0003g0103 a0028c0067t0002g0004 a0030c0074t0002g0099 a0031c0072t0002g0132 a0032c0071t0003g0131 a0033c0070t0001g0102 a0034c0073t0003g0096 a0047c0039t0003g0156 a0048c0038t0004g0041 a0054c0046t0003g0089	34	178	0.1910	4	c.118 others(17): Show c.1187-6_1187-3dupTCTT		PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	8/44					INFO_REALIGN_3_PRIME	chr12	TogoVar
PTRH1_chr9_127708807_127720663	127715194	C C	CCTGCGGG others(3): Show CCTGCGGGCGG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	348	0.0029	10	c.97- others(20): Show c.97-10_97-1dupCCGCCCGCAG		PTRH1	ENSG00000187024.15	transcript	ENST00000543175.5	protein_coding	1/4						chr9	TogoVar
PTTG1IP2_chr7_90464639_90518397	90487326	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02132.hp2 HG02148.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp1 NA18955.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0235 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0003c0005t0001g0281	72	384	0.1875	0	c.193 others(5): Show c.193-1G>A		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	2/6						chr7	TogoVar
PUSL1_chr1_1303597_1316677	1310876	CGGCTCTG others(10): Show CGGCTCTGGGTCACAGGT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01361.hp2 HG02257.hp1 others(1): Show HG00738.hp1 HG01361.hp2 HG02257.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	352	0.0114	-17	c.700 others(27): Show c.700-15_701delGGCTCTGGGTCACAGGT	p.Val others(5): Show p.Val234fs	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding	7/8		700/912	234/303		INFO_REALIGN_3_PRIME	chr1	TogoVar
PVALEF_chr17_81160507_81188166	81181121	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02717.hp2 HG02886.hp2 HG02896.hp2 others(3): Show HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 NA19043.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0010 a0004c0006 a0005c0010	a0004c0006t0009 a0005c0010t0017 a0004c0006t0009 a0005c0010t0017	a0004c0006t0009g0034 a0004c0006t0009g0058 a0004c0006t0009g0105 others(2): Show a0004c0006t0009g0034 a0004c0006t0009g0058 a0004c0006t0009g0105 a0004c0006t0009g0171 a0005c0010t0017g0251	6	408	0.0147	0	c.-10 others(6): Show c.-104-2A>G		PVALEF	ENSG00000225180.8	transcript	ENST00000637878.2	protein_coding	3/6						chr17	TogoVar
PVR_chr19_44638910_44671162	44661248	CCAGCATT others(39): Show CCAGCATTATTCCTTCCTGACGACTTCCCCTCCTATTTCCCCAGGTA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19054.hp2 NA19054.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0099 a0008c0009t0099	a0008c0009t0099g0087 a0008c0009t0099g0087	1	412	0.0024	-46	c.115 others(58): Show c.1151-40_1156delCATTATTCCTTCCTGACGACTTCCCCTCCTATT TCCCCAGGTACAG	p.Ser others(19): Show p.Ser384_Glu386delinsLys	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	7/8		1151/1254	384/417		INFO_REALIGN_3_PRIME	chr19	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0023 a0008c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0009t0003 a0001c0012t0002 a0001c0015t0003 a0001c0017t0002 a0001c0021t0002 a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0016t0003 a0003c0010t0002 a0003c0010t0003 a0003c0019t0002 a0004c0011t0002 a0004c0022t0002 a0005c0013t0002 a0007c0023t0002 a0008c0020t0001	a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0114 others(188): Show a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0005g0291 a0001c0002t0001g0221 a0001c0002t0003g0001 a0001c0002t0003g0005 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0036 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0051 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0132 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0190 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0003t0002g0006 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0054 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0004 a0001c0005t0002g0015 a0001c0005t0002g0040 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0200 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0005t0002g0205 a0001c0006t0001g0166 a0001c0006t0002g0011 a0001c0006t0002g0033 a0001c0006t0002g0048 a0001c0006t0002g0135 a0001c0006t0002g0141 a0001c0006t0002g0156 a0001c0006t0002g0157 a0001c0006t0002g0167 a0001c0006t0002g0171 a0001c0006t0002g0180 a0001c0006t0002g0201 a0001c0006t0002g0252 a0001c0006t0002g0273 a0001c0006t0002g0274 a0001c0007t0001g0284 a0001c0007t0002g0052 a0001c0007t0002g0276 a0001c0007t0002g0277 a0001c0007t0002g0278 a0001c0007t0002g0282 a0001c0007t0002g0283 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0007t0002g0287 a0001c0007t0002g0288 a0001c0009t0002g0056 a0001c0009t0002g0057 a0001c0009t0002g0063 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0055 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0042 a0001c0017t0002g0078 a0001c0021t0002g0280 a0002c0004t0001g0028 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0161 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0264 a0002c0008t0001g0024 a0002c0008t0001g0025 a0002c0008t0001g0064 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0019 a0003c0010t0002g0059 a0003c0010t0003g0020 a0003c0010t0003g0021 a0003c0010t0003g0058 a0003c0010t0003g0060 a0003c0019t0002g0271 a0004c0011t0002g0034 a0004c0011t0002g0168 a0004c0011t0002g0169 a0004c0022t0002g0279 a0005c0013t0002g0008 a0007c0023t0002g0289 a0008c0020t0001g0281	253	390	0.6487	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19						chr14	TogoVar
PZP_chr12_9143840_9213395	9196687	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	334	0.0030	0	c.868 others(5): Show c.868-2A>T		PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	8/35						chr12	TogoVar
RAB24_chr5_177296198_177308719	177301989	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18978.hp2 NA18978.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0029 a0004c0006t0002g0029	1	404	0.0025	0	c.485 others(5): Show c.485-2A>T		RAB24	ENSG00000169228.14	transcript	ENST00000303251.11	protein_coding	6/7						chr5	TogoVar
RAB34_chr17_28709284_28722868	28715508	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0017 a0003c0007t0001g0017	1	346	0.0029	0	c.380 others(5): Show c.380-1G>C		RAB34	ENSG00000109113.20	transcript	ENST00000395245.9	protein_coding	5/9						chr17	TogoVar
RAB3GAP2_chr1_220143293_220277453	220196400	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	378	0.0027	0	c.812 others(5): Show c.812-2A>G		RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding	9/34						chr1	TogoVar
RAB40A_chrX_103494130_103524489	103500824	GTTC GTTC	G G	splice_acceptor_variant others(2): Show splice_acceptor_variant 5_prime_UTR_variant intron_variant	HIGH	HG01109.hp1 HG02258.hp1 HG02451.hp2 others(11): Show HG01109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0069 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0069 a0001c0001t0002g0072	14	266	0.0526	-3	c.-70 others(12): Show c.-70-1_-69delGAA		RAB40A	ENSG00000172476.4	transcript	ENST00000304236.2	protein_coding	3/3				69		chrX	TogoVar
RAD17_chr5_69364818_69419801	69371436	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp1 HG00642.hp1 HG01243.hp1 others(25): Show HG00609.hp1 HG00642.hp1 HG01243.hp1 HG02074.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18960.hp2 NA18969.hp1 NA18987.hp2 NA18988.hp2 NA18997.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19078.hp1 NA19085.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0002 a0010c0011t0002 a0001c0001t0002 a0010c0011t0002	a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 others(25): Show a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0353 a0010c0011t0002g0352	28	359	0.0780	1	c.-27 others(7): Show c.-279-3dupC		RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51B_chr14_67814779_68483093	67864961	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01123.hp2 HG01175.hp1 HG01261.hp1 others(4): Show HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01981.hp1 HG02055.hp2 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0002g0011 a0001c0001t0004g0029	7	84	0.0833	1	c.316 others(6): Show c.316-3dupT		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	67864961	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01175.hp2 HG02615.hp2 HG03831.hp1 others(1): Show HG01175.hp2 HG02615.hp2 HG03831.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0034 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0005g0033	4	84	0.0476	2	c.316 others(13): Show c.316-4_316-3dupTT		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAMAC_chr15_82981210_82996057	82989008	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0047 a0003c0003t0008g0047	1	438	0.0023	0	c.-9- others(4): Show c.-9-2A>T		RAMAC	ENSG00000169612.4	transcript	ENST00000304191.4	protein_coding	2/3						chr15	TogoVar

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