Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
PLXDC2_chr10_19811432_20294856	20140405	A A	AAATATCT others(11): Show AAATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp1 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0061 a0001c0001t0017 a0001c0001t0061	a0001c0001t0017g0144 a0001c0001t0061g0030 a0001c0001t0017g0144 a0001c0001t0061g0030	2	180	0.0111	18	c.542 others(35): Show c.542-2890_542-2889insAATATCTATCTATCTATC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13			chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20189476	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03704.hp2 HG03927.hp1 HG02559.hp1 HG03704.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0046 a0002c0002t0007 a0002c0002t0120 a0001c0001t0046 a0002c0002t0007 a0002c0002t0120	a0001c0001t0046g0008 a0002c0002t0007g0037 a0002c0002t0120g0044 a0001c0001t0046g0008 a0002c0002t0007g0037 a0002c0002t0120g0044	3	180	0.0167	18	c.106 others(39): Show c.1061+12079_1061+12096dupTATATATATATATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20189504	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0051 a0001c0001t0122g0051	1	180	0.0056	18	c.106 others(39): Show c.1061+12096_1061+12097insTATATATATATATATACA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20194190	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03834.hp1 HG02080.hp2 HG03834.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0074 a0003c0003t0042 a0001c0001t0074 a0003c0003t0042	a0001c0001t0074g0110 a0003c0003t0042g0022 a0001c0001t0074g0110 a0003c0003t0042g0022	2	180	0.0111	18	c.106 others(39): Show c.1061+16803_1061+16820dupGTGTGTGTGTGTGTGTGT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20284330	T T	TATATATA others(11): Show TATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 HG02055.hp2 HG02723.hp1 HG01975.hp1 HG02055.hp2 HG02723.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0040 a0004c0004t0076 a0004c0004t0039 a0004c0004t0040 a0004c0004t0076	a0004c0004t0039g0134 a0004c0004t0040g0007 a0004c0004t0076g0129 a0004c0004t0039g0134 a0004c0004t0040g0007 a0004c0004t0076g0129	3	180	0.0167	18	c.45 others(29): Show c.4512_*4513insTATATATATATATATACA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	14/14	4513	INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208056972	C C	CAAGGGTG others(11): Show CAAGGGTGGAAAGGGCTTG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0072 a0004c0006t0072	a0004c0006t0072g0204 a0004c0006t0072g0204	1	312	0.0032	18	c.273 others(37): Show c.2739-2435_2739-2434insCAAGCCCTTTCCACCCTT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	13/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208168723	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18951.hp1 NA18960.hp1 HG00544.hp1 NA18951.hp1 NA18960.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0006 a0008c0011t0049 a0008c0011t0082 a0001c0001t0006 a0008c0011t0049 a0008c0011t0082	a0001c0001t0006g0119 a0008c0011t0049g0304 a0008c0011t0082g0232 a0001c0001t0006g0119 a0008c0011t0049g0304 a0008c0011t0082g0232	3	312	0.0096	18	c.137 others(39): Show c.1372-26261_1372-26260insAAAAAAAAAAAAAAAAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208186709	T T	TTTTGTTT others(11): Show TTTTGTTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0028 a0001c0001t0058g0028	1	312	0.0032	18	c.137 others(39): Show c.1371+23570_1371+23571insCAAAAAACAAAAAACAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02015.hp2 HG02698.hp1 others(5): Show HG01981.hp1 HG02015.hp2 HG02698.hp1 HG02735.hp2 NA18942.hp1 NA18951.hp1 NA18971.hp2 NA19063.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0051 a0005c0007 a0005c0065 others(1): Show a0002c0051 a0005c0007 a0005c0065 a0008c0011	a0002c0051t0086 a0005c0007t0022 a0005c0007t0039 others(5): Show a0002c0051t0086 a0005c0007t0022 a0005c0007t0039 a0005c0007t0081 a0005c0007t0090 a0005c0065t0044 a0008c0011t0010 a0008c0011t0082	a0002c0051t0086g0234 a0005c0007t0022g0278 a0005c0007t0039g0190 others(5): Show a0002c0051t0086g0234 a0005c0007t0022g0278 a0005c0007t0039g0190 a0005c0007t0081g0239 a0005c0007t0090g0255 a0005c0065t0044g0231 a0008c0011t0010g0280 a0008c0011t0082g0232	8	312	0.0256	18	c.137 others(35): Show c.1371+279_1371+296dupAAAAAAAAAAAAAAAAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151409	A A	AGGAGGAG others(11): Show AGGAGGAGGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01346.hp2 HG02165.hp2 others(1): Show HG00621.hp1 HG01346.hp2 HG02165.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0001c0001t0001 a0001c0004t0001 a0001c0011t0001	a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0004t0001g0013 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0004t0001g0013 a0001c0011t0001g0051	4	88	0.0455	18	c.466 others(37): Show c.4661-2764_4661-2763insCCTCCTCCTTCCTCCTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132172758	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03017.hp2 HG03239.hp1 HG02809.hp1 HG03017.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0013 a0001c0002t0023 a0001c0008t0002 a0001c0001t0013 a0001c0002t0023 a0001c0008t0002	a0001c0001t0013g0086 a0001c0002t0023g0032 a0001c0008t0002g0008 a0001c0001t0013g0086 a0001c0002t0023g0032 a0001c0008t0002g0008	3	88	0.0341	18	c.401 others(37): Show c.4017+2002_4017+2019dupTATTATTATTATTATTAT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	21/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132178713	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0005 a0001c0038t0005	a0001c0038t0005g0011 a0001c0038t0005g0011	1	88	0.0114	18	c.387 others(35): Show c.3874+956_3874+973dupGTGTGTGTGTGTGTGTGT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	20/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188995	A A	AAAGGAAA others(11): Show AAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	88	0.0114	18	c.285 others(37): Show c.2857-1389_2857-1388insCTTTCCTTTCCTTTCCTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132191772	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01257.hp1 others(14): Show HG00099.hp2 HG00621.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01943.hp1 HG02055.hp1 HG02080.hp1 HG02809.hp2 HG03139.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 NA18952.hp1 NA19074.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0017 a0001c0029 a0001c0032 a0001c0033 a0002c0036 a0005c0040	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0003t0002 a0001c0014t0008 a0001c0014t0009 a0001c0017t0003 a0001c0029t0001 a0001c0032t0002 a0001c0033t0001 a0002c0036t0006 a0005c0040t0015	a0001c0001t0001g0045 a0001c0001t0010g0053 a0001c0001t0014g0044 others(14): Show a0001c0001t0001g0045 a0001c0001t0010g0053 a0001c0001t0014g0044 a0001c0002t0001g0003 a0001c0002t0004g0006 a0001c0002t0004g0025 a0001c0002t0010g0057 a0001c0003t0002g0046 a0001c0003t0002g0049 a0001c0014t0008g0034 a0001c0014t0009g0056 a0001c0017t0003g0088 a0001c0029t0001g0015 a0001c0032t0002g0012 a0001c0033t0001g0042 a0002c0036t0006g0031 a0005c0040t0015g0040	17	88	0.1932	18	c.285 others(37): Show c.2856+2272_2856+2289dupGAGAGAGAGAGAGAGAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132312149	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp1 HG02809.hp2 others(3): Show HG00639.hp1 HG02258.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0030 a0001c0001 a0001c0002 a0001c0030	a0001c0001t0003 a0001c0001t0014 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0002t0003 a0001c0002t0023 a0001c0030t0017	a0001c0001t0003g0087 a0001c0001t0014g0044 a0001c0002t0003g0005 others(3): Show a0001c0001t0003g0087 a0001c0001t0014g0044 a0001c0002t0003g0005 a0001c0002t0003g0064 a0001c0002t0023g0032 a0001c0030t0017g0065	6	88	0.0682	18	c.137 others(39): Show c.1372-13945_1372-13928dupATTATTATTATTATTATT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132365358	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp1 HG00639.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0087 a0001c0002t0003g0064 a0001c0001t0003g0087 a0001c0002t0003g0064	2	88	0.0227	18	c.137 others(39): Show c.1372-67137_1372-67136insGCACGCGCACACACACAC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132365360	T T	TGCGCGCG others(11): Show TGCGCGCGCGCGTGCGTGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0053 a0001c0001t0010g0053	1	88	0.0114	18	c.137 others(39): Show c.1372-67139_1372-67138insGCACGCACGCGCGCGCGC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132365360	T T	TGTGCGCG others(11): Show TGTGCGCGCGCGTGCGTGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20300.hp1 HG03239.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0004 a0001c0001t0001 a0001c0007t0004	a0001c0001t0001g0048 a0001c0007t0004g0029 a0001c0001t0001g0048 a0001c0007t0004g0029	2	88	0.0227	18	c.137 others(39): Show c.1372-67139_1372-67138insGCACGCACGCGCGCGCAC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132365360	T T	TGTGTGTG others(11): Show TGTGTGTGTGCGTGCGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0002 a0001c0013t0007g0002	1	88	0.0114	18	c.137 others(39): Show c.1372-67139_1372-67138insGCACGCACGCACACACAC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132558940	C C	CACCAATC others(11): Show CACCAATCCCAAAGGCCTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0030 a0001c0024t0008g0030	1	88	0.0114	18	c.-87 others(37): Show c.-87+17464_-87+17481dupAAGGCCTTTGGGATTGGT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563350	T T	TCTCCTCC others(11): Show TCTCCTCCTTCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0042 a0001c0033t0001g0042	1	88	0.0114	18	c.-87 others(37): Show c.-87+13054_-87+13071dupGAGGAGGAGAAGGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307765	A A	AAGGAGGG others(11): Show AAGGAGGGGGAGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0117 a0002c0005t0002g0117	1	302	0.0033	18	c.-28 others(27): Show c.-287_-286insCCCCTCCCTCCCCCTCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		120		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307776	G G	GGGGAGGG others(11): Show GGGGAGGGGAGGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0016 a0002c0009t0002g0016	1	302	0.0033	18	c.-29 others(27): Show c.-298_-297insTCTTCCCCCTCCCCTCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		131		chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94268588	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 NA19030.hp2 HG02257.hp1 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0009 a0001c0007 a0001c0009	a0001c0007t0003 a0001c0009t0003 a0001c0007t0003 a0001c0009t0003	a0001c0007t0003g0174 a0001c0007t0003g0197 a0001c0009t0003g0237 a0001c0007t0003g0174 a0001c0007t0003g0197 a0001c0009t0003g0237	3	298	0.0101	18	c.359 others(37): Show c.3597+3370_3597+3387dupTTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXND1_chr3_129550214_129611676	129595921	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04199.hp1 HG00735.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0050 a0001c0020 a0002c0050	a0001c0020t0001 a0002c0050t0009 a0001c0020t0001 a0002c0050t0009	a0001c0020t0001g0132 a0002c0050t0009g0120 a0001c0020t0001g0132 a0002c0050t0009g0120	2	416	0.0048	18	c.131 others(37): Show c.1312-6412_1312-6395dupTGTGTGTGTGTGTGTGTG	PLXND1	ENSG00000004399.13	transcript	ENST00000324093.9	protein_coding	1/35			chr3	TogoVar
PLXND1_chr3_129550214_129611676	129595921	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01517.hp2 others(8): Show HG00140.hp2 HG01069.hp2 HG01517.hp2 HG03688.hp2 NA18970.hp1 NA18975.hp1 NA18997.hp2 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA20905.hp2	a0001 a0003 a0030 a0001 a0003 a0030	a0001c0002 a0003c0007 a0030c0060 a0001c0002 a0003c0007 a0030c0060	a0001c0002t0002 a0003c0007t0001 a0030c0060t0002 a0001c0002t0002 a0003c0007t0001 a0030c0060t0002	a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0104 others(7): Show a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0204 a0003c0007t0001g0027 a0003c0007t0001g0103 a0030c0060t0002g0070	11	416	0.0264	18	c.131 others(37): Show c.1312-6395_1312-6394insTGTGTGTGTGTGTGTGCG	PLXND1	ENSG00000004399.13	transcript	ENST00000324093.9	protein_coding	1/35			chr3	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG03225.hp1 NA20300.hp2 HG01257.hp2 HG03225.hp1 NA20300.hp2	a0004 a0009 a0004 a0009	a0004c0005 a0009c0011 a0009c0018 a0004c0005 a0009c0011 a0009c0018	a0004c0005t0002 a0009c0011t0001 a0009c0018t0001 a0004c0005t0002 a0009c0011t0001 a0009c0018t0001	a0004c0005t0002g0180 a0009c0011t0001g0253 a0009c0018t0001g0131 a0004c0005t0002g0180 a0009c0011t0001g0253 a0009c0018t0001g0131	3	416	0.0072	18	c.-33 others(29): Show c.-3365_-3364insATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853444	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02818.hp1 HG02896.hp2 others(3): Show HG01175.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0001g0241 a0001c0002t0002g0204 a0001c0004t0001g0036 others(1): Show a0001c0002t0001g0241 a0001c0002t0002g0204 a0001c0004t0001g0036 a0001c0004t0001g0037	6	416	0.0144	18	c.-33 others(29): Show c.-3373_-3372insGTATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3313		chr1	TogoVar
PMEL_chr12_55949105_55971042	55955270	T T	TTACCTAT others(11): Show TTACCTATATATATATATA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03471.hp1 HG03579.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0209 a0001c0003t0001g0044 a0001c0003t0001g0209	3	396	0.0076	18	c.185 others(31): Show c.1850+3_1850+4insTATATATATATATAGGTA	PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding	10/10			chr12	TogoVar
PMEPA1_chr20_57643396_57715015	57683548	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02004.hp2 HG02257.hp1 others(6): Show HG01891.hp2 HG02004.hp2 HG02257.hp1 HG02922.hp1 HG03209.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0003t0001 a0002c0004t0011 a0002c0004t0019	a0001c0001t0001g0076 a0001c0001t0009g0204 a0001c0002t0005g0054 others(6): Show a0001c0001t0001g0076 a0001c0001t0009g0204 a0001c0002t0005g0054 a0001c0002t0010g0070 a0001c0002t0010g0180 a0001c0002t0015g0210 a0001c0003t0001g0261 a0002c0004t0011g0055 a0002c0004t0019g0205	9	360	0.0250	18	c.110 others(37): Show c.110-23852_110-23851insGCACACACACACACACAC	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMEPA1_chr20_57643396_57715015	57683550	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG02896.hp2 others(4): Show HG01109.hp1 HG02615.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03540.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0009 a0001c0002t0007 a0001c0002t0026 others(4): Show a0001c0001t0009 a0001c0002t0007 a0001c0002t0026 a0001c0003t0004 a0001c0005t0001 a0002c0004t0017 a0002c0004t0050	a0001c0001t0009g0186 a0001c0002t0007g0190 a0001c0002t0026g0189 others(4): Show a0001c0001t0009g0186 a0001c0002t0007g0190 a0001c0002t0026g0189 a0001c0003t0004g0184 a0001c0005t0001g0187 a0002c0004t0017g0324 a0002c0004t0050g0188	7	360	0.0194	18	c.110 others(37): Show c.110-23854_110-23853insGCACACACACACACACAC	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMEPA1_chr20_57643396_57715015	57683552	T T	TGTGTGTG others(11): Show TGTGTGTGTGCGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp2 HG02109.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0006 a0001c0001t0014 a0001c0003t0006	a0001c0001t0014g0035 a0001c0003t0006g0159 a0001c0001t0014g0035 a0001c0003t0006g0159	2	360	0.0056	18	c.110 others(37): Show c.110-23856_110-23855insGCACACACGCACACACAC	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMEPA1_chr20_57643396_57715015	57683552	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0191 a0001c0001t0009g0191	1	360	0.0028	18	c.110 others(37): Show c.110-23856_110-23855insGCACACACACACACACAC	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMF1_chr1_156208007_156245042	156236831	C C	CACTGCCC others(11): Show CACTGCCCAACATAGATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	364	0.0028	18	c.564 others(33): Show c.564+350_564+367dupCTGCCCAACATAGATATA	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PMM1_chr22_41571900_41594840	41594339	G G	GGGGGGGT others(11): Show GGGGGGGTGGGGGGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	330	0.0030	18	c.-45 others(29): Show c.-4535_-4534insACCGCCCCCCCACCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4500		chr22	TogoVar
PMM2_chr16_8792839_8854325	8827748	A A	ATATATAT others(11): Show ATATATATATGCACACATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0299 a0001c0001t0004g0299	1	408	0.0025	18	c.639 others(37): Show c.639+14651_639+14652insGCACACATTTATATATAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	408	0.0025	18	c.41 others(29): Show c.4152_*4153insCTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01934.hp2 HG02572.hp1 others(8): Show HG01167.hp2 HG01934.hp2 HG02572.hp1 HG02965.hp1 NA18953.hp1 NA18956.hp1 NA18962.hp1 NA18975.hp1 NA18975.hp2 NA19002.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0039 a0002c0002t0036 a0001c0001t0002 a0001c0001t0039 a0002c0002t0036	a0001c0001t0002g0140 a0001c0001t0002g0201 a0001c0001t0002g0217 others(8): Show a0001c0001t0002g0140 a0001c0001t0002g0201 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0257 a0001c0001t0002g0272 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0039g0268 a0002c0002t0036g0199	11	408	0.0270	18	c.41 others(29): Show c.4152_*4153insTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMP22_chr17_15224779_15270326	15263583	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG03209.hp1 HG02055.hp1 HG02145.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0050 a0001c0001t0006g0055 a0001c0001t0006g0056	3	426	0.0070	18	c.-35 others(35): Show c.-35+1570_-35+1571insTGTGTGTGTGTGTGTGCG	PMP22	ENSG00000109099.16	transcript	ENST00000312280.9	protein_coding	1/4			chr17	TogoVar
PMPCA_chr9_136405658_136428761	136416900	G G	GCCTGGTC others(11): Show GCCTGGTCATGCTGTCTTC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	390	0.0026	18	c.634 others(31): Show c.634-50_634-33dupCCTGGTCATGCTGTCTTC	PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
PMS1_chr2_189779450_189882629	189792688	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	234	0.0043	18	c.132 others(33): Show c.132+762_132+779dupATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189835902	G G	GGGTGACA others(11): Show GGGTGACAGAATAAGACCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0229 a0003c0004t0001g0229	1	234	0.0043	18	c.583 others(35): Show c.583-8062_583-8061insGGTGACAGAATAAGACCC	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	5/12			chr2	TogoVar
PMS1_chr2_189779450_189882629	189860839	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTGAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03831.hp1 NA18983.hp2 HG03139.hp1 HG03831.hp1 NA18983.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0006 a0001c0001 a0009c0006	a0001c0001t0001 a0009c0006t0001 a0001c0001t0001 a0009c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0128 a0009c0006t0001g0232 a0001c0001t0001g0024 a0001c0001t0001g0128 a0009c0006t0001g0232	3	234	0.0128	18	c.185 others(37): Show c.1857-2904_1857-2903insTTTTTTTTTTTTTTTGAG	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12			chr2	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18956.hp1 HG01496.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0155 a0001c0001t0001g0171	2	234	0.0086	18	c.234 others(35): Show c.2342+443_2342+460dupAAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009964	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0035 a0001c0010t0011g0035	1	408	0.0025	18	c.-94 others(27): Show c.-946_-945insATATATATATATATATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		916		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009968	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0331 a0006c0007t0006g0331	1	408	0.0025	18	c.-95 others(27): Show c.-950_-949insATATATATATATATATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		920		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009972	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0098 a0001c0002t0036g0098	1	408	0.0025	18	c.-95 others(27): Show c.-954_-953insATATATATATATATATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		924		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	408	0.0025	18	c.-95 others(27): Show c.-956_-955insATATATATTTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG02129.hp1 HG00280.hp2 HG01192.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0119 a0001c0002t0002g0240 a0001c0003t0001g0008 a0001c0002t0002g0119 a0001c0002t0002g0240 a0001c0003t0001g0008	3	408	0.0074	18	c.-95 others(27): Show c.-956_-955insATATATATATTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03942.hp1 HG04184.hp1 others(8): Show HG02615.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18973.hp1 NA18990.hp1 NA18994.hp2 NA19011.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0013 a0017 a0026	a0001c0002 a0002c0013 a0008c0011 others(3): Show a0001c0002 a0002c0013 a0008c0011 a0013c0022 a0017c0044 a0026c0036	a0001c0002t0002 a0001c0002t0031 a0002c0013t0001 others(4): Show a0001c0002t0002 a0001c0002t0031 a0002c0013t0001 a0008c0011t0002 a0013c0022t0002 a0017c0044t0001 a0026c0036t0027	a0001c0002t0002g0205 a0001c0002t0002g0244 a0001c0002t0002g0264 others(8): Show a0001c0002t0002g0205 a0001c0002t0002g0244 a0001c0002t0002g0264 a0001c0002t0002g0275 a0001c0002t0031g0269 a0002c0013t0001g0176 a0002c0013t0001g0266 a0008c0011t0002g0256 a0013c0022t0002g0261 a0017c0044t0001g0181 a0026c0036t0027g0230	11	408	0.0270	18	c.-95 others(27): Show c.-956_-955insATATATATATATTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar

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