Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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No_hapid

No_samplehapid

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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
NXN_chr17_794310_984776	949673	C C	CCCCCTGC others(162): Show CCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	242	0.0041	169	c.360 others(188): Show c.360+29645_360+29646insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAGAA others(162): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	296	0.0034	169	c.-18 others(178): Show c.-185_-184insCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		150		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAGAA others(162): Show AGAAAGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	296	0.0034	169	c.-18 others(178): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		150		chr13	TogoVar
OR1F1_chr16_3183204_3211556	3197841	A A	AGGAGAGG others(162): Show AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGGAGAGGGAGAAGGAGAGGGAGAGGGAG AAGGAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0076 a0002c0002t0012g0076	1	328	0.0031	169	c.-12 others(186): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4K1_chr14_19925917_19941757	19937355	T T	TATAATAT others(162): Show TATAATATATATATTATATATTATATATATATTATATATATATAATATAT ATTATATATAATATATATATAATATATAATATATATATATAATATATATA ATATATATATTATATATATAATATATATAATATATATATTATATATATAA TATATATTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	252	0.0040	169	c.75 others(178): Show c.753_*754insATAATATATATATTATATATTATATATATATTATAT ATATATAATATATATTATATATAATATATATATAATATATAATATATATA TATAATATATATAATATATATATTATATATATAATATATATAATATATAT ATTATATATATAATATATATTATATATATATAC	OR4K1	ENSG00000155249.5	transcript	ENST00000641172.1	protein_coding		599		chr14	TogoVar
OR5AN1_chr11_59353895_59376714	59356682	A A	AGAGGGGA others(162): Show AGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGGGAAGGGGAGGGGACG GAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGGGG AGGGGAGGGAAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAG GGGGGGAGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0057 a0002c0002t0012g0057	1	358	0.0028	169	c.-26 others(180): Show c.-2604_-2603insGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGG GAAGGGGAGGGGACGGAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGGAGGGGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGGGGAG GGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGG	OR5AN1	ENSG00000176495.3	transcript	ENST00000641998.1	protein_coding		2212		chr11	TogoVar
P2RY8_chrX_1457581_1542185	1468777	C C	CTCCCCTC others(162): Show CTCCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCTCCCCTT CCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCC CTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCT CTCCCCTCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0012 a0001c0001t0031g0012	1	114	0.0088	169	c.-24 others(186): Show c.-24-2196_-24-2195insAGGGGAGGGGGAGAGGGGAGAGGGAAGG GGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGG AGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P4HA2_chr5_132185147_132232853	132208400	G G	GAGGAGGG others(162): Show GAGGAGGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	426	0.0024	169	c.904 others(184): Show c.904-517_904-516insTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCCTCCT	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PARD3_chr10_34104561_34820296	34605950	A A	ATATATAT others(162): Show ATATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATA TATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATAT ATATATCTCCTATATATATCTCTCCTATATATATATCTCCTATATATATC TCTCCTATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0095 a0003c0008t0013g0095	1	100	0.0100	169	c.223 others(188): Show c.223-88792_223-88791insGGAGATATATATATAGGAGAGATATA TATAGGAGATATATATATAGGAGAGATATATATAGGAGATATATATATAG GAGATATATATATATAGGAGATATATATATAGGAGATATATATATATAGG AGATATATATATAGGAGATATATATATATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(162): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGG GGGCGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	221	0.0045	169	c.-95 others(178): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCG GGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCGGCCCA others(162): Show CCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTG CCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCC GCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG03017.hp1 others(1): Show HG01069.hp1 HG01070.hp2 HG03017.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0257 a0001c0001t0002g0262 others(1): Show a0001c0001t0002g0225 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0267	4	292	0.0137	169	c.471 others(184): Show c.471+307_471+308insGGCCCACCCACTGCCCAGATACGGACCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCA GATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909848	A A	ACCCCCCC others(162): Show ACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCC AGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCA CTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCA CCCACTGCCCAGATACAGAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	292	0.0034	169	c.471 others(184): Show c.471+364_471+365insCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATA CGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCC AGATACGGACCCGGCCACCCACTGCCCAGATACAGACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909853	G G	CCCACCCA others(162): Show CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCCAC TGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01099.hp1 others(12): Show HG00438.hp2 HG00673.hp1 HG01099.hp1 HG01261.hp2 HG01934.hp1 HG02015.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp2 NA18941.hp1 NA18955.hp1 NA18955.hp2 NA18982.hp1 NA19068.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0001c0001t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0144 others(12): Show a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0002g0249 a0001c0001t0002g0255 a0002c0006t0001g0174	15	292	0.0514	169	c.471 others(181): Show c.471+367delGinsCCCACCCACTGCCCAGATACGGACCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCCCTCCACCCACTGCCCAGATACGGACCCCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(162): Show GTGTGTGTGGTGCCCACGCGGCGCGTGATTGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0113 a0005c0016t0001g0113	1	332	0.0030	169	c.511 others(188): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGATTGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(162): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	358	0.0028	169	c.143 others(184): Show c.143-394_143-393insCTGGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(162): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0251 a0001c0001t0005g0251	1	358	0.0028	169	c.143 others(184): Show c.143-324_143-323insCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(162): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	358	0.0028	169	c.143 others(184): Show c.143-267_143-266insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(162): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG01243.hp1 HG01891.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0054 a0009c0015t0001g0055 a0009c0015t0001g0054 a0009c0015t0001g0055	2	410	0.0049	169	c.980 others(184): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(162): Show TATGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATATC TATAGATTGGATATCTATATCTAGAGATATCTATAGATTAGATATCTATG ATATCTATATCTAGAGATATCTATAGATTGATATCTATATCTAGAGATAT CTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG06807.hp1 HG01884.hp2 HG02647.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0030 a0001c0001t0005g0033 a0001c0001t0005g0034	3	346	0.0087	169	c.176 others(188): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATAGATATCAATCTATAGATATCTCTAGATATAGATATCATAGA TATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATC TCTAGATATAGATATCCAATCTATAGATATCTCTAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	401739	G G	GCCCCGCT others(162): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	216	0.0046	169	c.173 others(188): Show c.1737+1034_1737+1035insCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLD4_chr14_104919879_104938236	104933612	C C	CGGGAGGG others(162): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGCGACCCGCGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp2 HG00733.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0008 a0001c0001t0001g0027	2	426	0.0047	169	c.64 others(178): Show c.648_*649insGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGG GAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCGCGGCT GAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGC GGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGT	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		377		chr14	TogoVar
PLD4_chr14_104919879_104938236	104933612	C C	CGGGAGGG others(162): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	2	426	0.0047	169	c.64 others(178): Show c.648_*649insGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGG GAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCT GAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGC GGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGT	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		377		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	108692	A A	GGTGCAGA others(162): Show GGTGCAGATGGCTGGTGTAGACAGACTGGGTGCAGATGGCTGGTGTAGAC AGACTGGGTGCAGATGGCTGGGTGTAGACAGACTGGGTGCAGATGGCTGG TGTAGACAGACTGGGTGCAGATGGCTGGTGTAGACAGACTGGGTGCAGAT GGCTGGTGTAGACAGACTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0020 a0006c0073t0020	a0006c0073t0020g0193 a0006c0073t0020g0193	1	210	0.0048	169	c.46- others(184): Show c.46-4560_46-4559insGGTGCAGATGGCTGGTGTAGACAGACTGGG TGCAGATGGCTGGTGTAGACAGACTGGGTGCAGATGGCTGGGTGTAGACA GACTGGGTGCAGATGGCTGGTGTAGACAGACTGGGTGCAGATGGCTGGTG TAGACAGACTGGGTGCAGATGGCTGGTGTAGACAGACTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19			chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137517913	C C	CTCACTCA others(162): Show CTCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCA CTCTGTCCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCATC CCTCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCC ACTCTGTCCACTCCATCCCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0151 a0008c0014t0001g0151	1	188	0.0053	169	c.108 others(188): Show c.1084+2003_1084+2004insTGGGATGGAGTGGACAGAGTGGAGTG AGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGA GTGGACAGAGTGGAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGT GAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518738	C C	CCACTCCA others(162): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCAC TCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GCTCACTCCATCCCCCACTCACTCATTCCACTCTGTCCACTCCATCCTCA CTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 NA20300.hp2 HG01243.hp1 HG02145.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0005g0188 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0005g0188	3	188	0.0160	169	c.108 others(188): Show c.1084+1178_1084+1179insAGCAGAGTGGAGTGAGTGAGTGAGGA TGGAGTGGACAGAGTGGAATGAGTGAGTGGGGGATGGAGTGAGCAGAGTG GAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POTEC_chr18_14502339_14548600	14543632	T T	TGCGGGGC others(162): Show TGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCG CGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCG CGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGGCGCGCGTGCGGGG CGCGCGTGCGGGGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 NA18957.hp1 NA19087.hp2 HG00741.hp2 NA18957.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0006 a0001c0001t0003g0091 a0001c0001t0003g0094	3	388	0.0077	169	c.-48 others(178): Show c.-487_-486insGCGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCC CGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGC CCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGCGCCCCGCACGCGC GCCCCGCACGCGCGCCCCGCACGCGCGCCCCGC	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding		33		chr18	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(162): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTGTATATATATGTATATATGTATATATATGTATAT ATATACATATATATACATATATATACATATATATACACACACATATATAT ACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 HG02080.hp1 HG02080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0002g0068 a0002c0006t0001g0013 a0001c0001t0002g0068 a0002c0006t0001g0013	2	170	0.0118	169	c.106 others(188): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATATGT ATATATATGTATATATATACATATATATACATATATATACATATATATAC ACACACATATATATACACACACACACATAATACATATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(162): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTGTATATATATGTATATATGTATATATATGTATAT ATATATACATATATATACATATATACATATATATACACACACATATATAT ACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	170	0.0059	169	c.106 others(188): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATATGT ATATATATGTATATATATATACATATATATACATATATACATATATATAC ACACACATATATATACACACACACACATAATACATATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATATA others(162): Show TGTATATATTATATACATACATGTATGTATATATTATATACATACATGTA TGTATATATTATATACATACATGTATGTATATATTATATACATACATGTA TGTATATATTATATACATACATGTATGTATATATTATATACATACATGTA TGTATATATTATATACATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG01109.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0002g0153 a0001c0001t0001g0111 a0001c0001t0002g0153	2	168	0.0119	169	c.303 others(188): Show c.303+34087_303+34088insGTATGTATATAATATATACATACATG TATGTATATAATATATACATACATGTATGTATATAATATATACATACATG TATGTATATAATATATACATACATGTATGTATATAATATATACATACATG TATGTATATAATATATACATACATGTATGTATATAATATATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP1R16A_chr8_144472982_144507121	144505532	T T	TTGCGTTC others(162): Show TTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTC CCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTCCCCCGCCG CCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTCCCCGCCGCCCCGCCC CACTCCCCCCGCGCCCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0199 a0001c0001t0019g0199	1	356	0.0028	169	c.36 others(180): Show c.3629_*3630insTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGC GCCCACGGTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGG TGCGTTCCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTC CCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGG	PPP1R16A	ENSG00000160972.10	transcript	ENST00000435887.2	protein_coding		3412		chr8	TogoVar
PPP2R5C_chr14_101756709_101932977	101782577	C C	CTCTGTCT others(162): Show CTCTGTCTCTTTCTCCCCCCCTTTCCACTTTCTCTCTTTCTCCCCCCTTC CCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCATTCCCCTCCCTCTCT CCCCCTTCCCTTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCATTCCCCT CCCTCTCTCCCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	138	0.0073	169	c.94- others(184): Show c.94-3441_94-3440insTCTGTCTCTTTCTCCCCCCCTTTCCACTTT CTCTCTTTCTCCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTC CCCATTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCC TCCCTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PRKCA_chr17_66297613_66815743	66799518	T T	TGGGGTGG others(162): Show TGGGGTGGTGATGGTGGTGGGTGGTGGTGGTGGTGGTGATGGTATGGTGG TGGTGATGGTGATGGTGATGGTGGTGGTGGTGAGGTGGTGGGTGGTGGTG GGGGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGGTG GTGTGGTGGTGGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0019 a0001c0002t0003g0019	1	178	0.0056	169	c.185 others(188): Show c.1855-4353_1855-4352insGGTGGTGATGGTGGTGGGTGGTGGTG GTGGTGGTGATGGTATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGAGGTGGTGGGTGGTGGTGGGGGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGGTGGTGTGGTGGTGGTGGTGGTGGG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122093	G G	GGTAGTTA others(162): Show GGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATT TAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18943.hp2 NA18968.hp2 HG02273.hp2 NA18943.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0057 a0001c0001t0001g0244 a0001c0001t0012g0058 a0001c0001t0001g0057 a0001c0001t0001g0244 a0001c0001t0012g0058	3	286	0.0105	169	c.335 others(188): Show c.335-13167_335-13166insAGTTAGGATCATGGCTGTAGTTAGCG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGG TGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122487	G G	GGTAGTTA others(162): Show GGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATT TAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02896.hp1 HG01517.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0205 a0001c0002t0001g0211	2	286	0.0070	169	c.335 others(188): Show c.335-12773_335-12772insAGTTAGGATCATGGCTGTAGTTAGCG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGG TGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122640	G G	GGTAGTTA others(162): Show GGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATT TAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0195 a0001c0003t0010g0195	1	286	0.0035	169	c.335 others(188): Show c.335-12620_335-12619insAGTTAGGATCATGGCTGTAGTTAGCG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGG TGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROSER2_chr10_11818356_11877277	11849079	T T	TGGGAGGC others(162): Show TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCA GTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAC TCCATCTCAAAAAAAAAAAATGCAAAAATTAGCCAGGCATGATGGCGGGC ACCTGTAATCCCAGGTACTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0195 a0003c0004t0006g0195	1	348	0.0029	169	c.-81 others(186): Show c.-81-2887_-81-2886insTGGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAA AAAAAAAAAATGCAAAAATTAGCCAGGCATGATGGCGGGCACCTGTAATC CCAGGTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACC	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11849102	G G	GCTTGAAC others(162): Show GCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGC ACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAATGC AAAAATTAGCCAGGCATGATGGCGGGCACCTGTAATCCCAGGTACTCGGG AGGCTGAGGCAGGAGAATCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03209.hp1 HG03225.hp2 others(1): Show HG01167.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0097 a0003c0004t0006g0158 a0003c0004t0006g0194 others(1): Show a0003c0004t0006g0097 a0003c0004t0006g0158 a0003c0004t0006g0194 a0003c0004t0006g0196	4	348	0.0115	169	c.-81 others(186): Show c.-81-2887_-81-2886insTGGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAA AAAAAAAAAATGCAAAAATTAGCCAGGCATGATGGCGGGCACCTGTAATC CCAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(162): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTCTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCTCTCCACCTCCCCT CCCTCTCTCCACCTTCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	227	0.0044	169	c.23 others(180): Show c.2337_*2338insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCTCTCTCTCCCTCCCTCT CTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54134245	C C	CTCCCTCT others(162): Show CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	227	0.0044	169	c.28 others(180): Show c.2813_*2814insTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2533		chr19	TogoVar
RASA3_chr13_113972783_114137623	114120110	C C	CCCCCCTT others(162): Show CCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAG CCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAG GGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTC CAGCCAGGCGTCGATCAGGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	6	67	0.0896	169	c.55+ others(186): Show c.55+12324_55+12325insCCCTGATCGACGCCTGGCTGGAGAGAAG GGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGA CGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGCCTGGCTGGAGAG AGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAAGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(162): Show CTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCAC CCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCC CCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19091.hp1 HG02055.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0011 a0001c0002t0003g0089 a0001c0001t0001g0011 a0001c0002t0003g0089	2	344	0.0058	169	c.233 others(188): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAG CGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGC ACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(162): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	448	0.0022	169	c.48 others(180): Show c.4815_*4816insAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(162): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	448	0.0022	169	c.48 others(180): Show c.4815_*4816insAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(162): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0129 a0001c0007t0001g0129	1	448	0.0022	169	c.47 others(180): Show c.4781_*4782insTAATAATAATAATAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(162): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	448	0.0022	169	c.47 others(180): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
ROCK2_chr2_11174759_11349636	11330945	G G	GGAGGAGG others(162): Show GGAGGAGGAGGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGAGGG GGGAGGAAGGGGGGAGGAGGAGGGGGAGGAGGGAGTAGGAGGGGGGAGGA GGACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGGAGGG AGGAGGAAGGAGGAGTGGGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0091 a0002c0002t0038g0091	1	320	0.0031	169	c.141 others(188): Show c.141+13050_141+13051insTCCCACTCCTCCTTCCTCCTCCCTCC TCCTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCC CCCCTCCTACTCCCTCCTCCCCCTCCTCCTCCCCCCTTCCTCCCCCCTCC TACTGCGTCCTCCCCCCTCCTACTCCATCCTCCCCTCCTCCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330956	G G	GGGGGGAG others(162): Show GGGGGGAGGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGA GGGGGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGGAGTAGGAGGGGGGAG GAGGACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGGAG GGAGGAGGAAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0211 a0001c0001t0007g0211	1	320	0.0031	169	c.141 others(188): Show c.141+13039_141+13040insTCCCTCCTCCTTCCTCCTCCCTCCTC CTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCCCC CCTCCTACTCCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTAC TGCGTCCTCCCCCCTCCTACTCCATCCTCCCTCCTCCTCCCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPS6KA2_chr6_166404364_166632251	166449870	C C	CATGACAG others(162): Show CATGACAGACTACCACAGGGACCACCACAGGAACCACTACAGGGACCACC ATGGAGACCACCACAGGGACCGCCATGGGAACCACCATGAGGACCGCCAT GGGAACCACCATGAGGACCACCATGGGAACCACCATGGGGACCACCAGGG AGATCACCATTGGAAACACT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01169.hp2 others(26): Show HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01978.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp2 NA18956.hp2 NA19009.hp1 NA19077.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0022 others(11): Show a0001c0005 a0001c0009 a0001c0022 a0001c0029 a0001c0038 a0001c0042 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0052 a0001c0054 a0001c0061 a0001c0062	a0001c0005t0001 a0001c0005t0003 a0001c0005t0012 others(15): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0012 a0001c0005t0028 a0001c0009t0001 a0001c0022t0004 a0001c0022t0017 a0001c0029t0018 a0001c0038t0018 a0001c0042t0014 a0001c0045t0043 a0001c0046t0004 a0001c0047t0030 a0001c0048t0002 a0001c0052t0004 a0001c0054t0001 a0001c0061t0015 a0001c0062t0040	a0001c0005t0001g0101 a0001c0005t0001g0142 a0001c0005t0001g0162 others(26): Show a0001c0005t0001g0101 a0001c0005t0001g0142 a0001c0005t0001g0162 a0001c0005t0001g0170 a0001c0005t0003g0074 a0001c0005t0003g0084 a0001c0005t0003g0132 a0001c0005t0012g0014 a0001c0005t0028g0180 a0001c0009t0001g0109 a0001c0009t0001g0152 a0001c0009t0001g0161 a0001c0009t0001g0177 a0001c0009t0001g0218 a0001c0009t0001g0219 a0001c0022t0004g0071 a0001c0022t0004g0237 a0001c0022t0017g0189 a0001c0029t0018g0004 a0001c0038t0018g0002 a0001c0042t0014g0043 a0001c0045t0043g0123 a0001c0046t0004g0154 a0001c0047t0030g0222 a0001c0048t0002g0098 a0001c0052t0004g0148 a0001c0054t0001g0228 a0001c0061t0015g0073 a0001c0062t0040g0144	29	244	0.1189	169	c.120 others(188): Show c.1207-1022_1207-1021insAGTGTTTCCAATGGTGATCTCCCTGG TGGTCCCCATGGTGGTTCCCATGGTGGTCCTCATGGTGGTTCCCATGGCG GTCCTCATGGTGGTTCCCATGGCGGTCCCTGTGGTGGTCTCCATGGTGGT CCCTGTAGTGGTTCCTGTGGTGGTCCCTGTGGTAGTCTGTCAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20			chr6	TogoVar
SAMD11_chr1_918923_949574	934254	G G	GTGGGCGG others(162): Show GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCG TTACAGATGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GGGGGCGGCTCCGTTACAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0006 a0013c0020t0006	a0013c0020t0006g0302 a0013c0020t0006g0302	1	434	0.0023	169	c.843 others(186): Show c.843-1513_843-1512insGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTCCGTTACAGATGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGGCGGCTCCGTTACAGATGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934371	C C	CGGGGGAG others(162): Show CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0281 a0004c0008t0006g0281	1	434	0.0023	169	c.843 others(186): Show c.843-1401_843-1400insGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar

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