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 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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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
OCA2_chr15_27749875_28104315	27913864	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAGCAAGCAAGCA AGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp1 HG02723.hp2 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0017 a0001c0005 a0004c0017	a0001c0005t0001 a0004c0017t0001 a0001c0005t0001 a0004c0017t0001	a0001c0005t0001g0110 a0004c0017t0001g0104 a0001c0005t0001g0110 a0004c0017t0001g0104	2	110	0.0182	-64	c.207 others(85): Show c.2079+12199_2079+12262delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23			chr15	TogoVar
OPCML_chr11_132409981_133537501	133458227	CACGTGTG others(57): Show CACGTGTGTGTATATATACACATATATATACACGTGTGTGTATATATACA CACATATATACACGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0060 a0001c0001t0009g0060	1	68	0.0147	-64	c.61+ others(81): Show c.61+73973_61+74036delACGTGTATATATGTGTGTATATATACAC ACACGTGTATATATATGTGTATATATACACACACGT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPN3_chr1_241588124_241645369	241624082	GCACTGTG others(57): Show GCACTGTGGACCCTCTTCCACCTGTCCTGCCTCCCCACGCCAGGCCAGGC ACTCTATGCTCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	2	410	0.0049	-64	c.373 others(83): Show c.373+15736_373+15799delTCTGGAGCATAGAGTGCCTGGCCTGG CGTGGGGAGGCAGGACAGGTGGAAGAGGGTCCACAGTG	OPN3	ENSG00000054277.14	transcript	ENST00000366554.3	protein_coding	1/3			chr1	TogoVar
OPN3_chr1_241588124_241645369	241624202	TGCTCCAG others(57): Show TGCTCCAGACACTGTGGACCCTCTTTCACCTGTCCTGCCTCTCCACGCCA GGCCAGGCACTCTAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01070.hp1 others(32): Show HG00639.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp2 HG02074.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02723.hp2 HG02896.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp1 NA18965.hp2 NA18983.hp2 NA19003.hp1 NA19011.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0008 a0001c0001 a0001c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0005c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0002g0068 a0001c0001t0008g0273 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0020g0074 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0003g0045 a0001c0003t0003g0048 a0005c0008t0001g0072	35	410	0.0854	-64	c.373 others(83): Show c.373+15616_373+15679delGTAGAGTGCCTGGCCTGGCGTGGAGA GGCAGGACAGGTGAAAGAGGGTCCACAGTGTCTGGAGC	OPN3	ENSG00000054277.14	transcript	ENST00000366554.3	protein_coding	1/3			chr1	TogoVar
OR13J1_chr9_35864463_35875401	35872081	TCCATACC others(57): Show TCCATACCCAGCCTCACCCACCCTTCCCACTCTCCCATACCCAGACTCAC CCTCCCCCCACTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	462	0.0022	-64	c.-17 others(75): Show c.-1744_-1681delGAGAGTGGGGGGAGGGTGAGTCTGGGTATGGGAG AGTGGGAAGGGTGGGTGAGGCTGGGTATGG	OR13J1	ENSG00000168828.6	transcript	ENST00000377981.4	protein_coding		1681		chr9	TogoVar
OR14A16_chr1_247809660_247829119	247825926	GTGTATAT others(57): Show GTGTATATATATGTGTATATATATGTGTGTGTATATATATACACACACAT ATATATACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(25): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0002 a0001c0003t0001 a0001c0008t0002	a0001c0003t0001g0002 a0001c0003t0001g0025 a0001c0003t0001g0033 others(2): Show a0001c0003t0001g0002 a0001c0003t0001g0025 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0008t0002g0032	28	342	0.0819	-64	c.-21 others(75): Show c.-2168_-2105delTGTGTGTGTATATATATGTGTGTGTATATATATA CACACACATATATATACACATATATATACA	OR14A16	ENSG00000196772.5	transcript	ENST00000641093.1	protein_coding		1808		chr1	TogoVar
OR6C70_chr12_55464200_55475138	55474799	CAAATATA others(57): Show CAAATATATATTCTCATAAAAATATTCAAAGTATACATTAGATACAAAAT TCCAAAGAAGTTTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0000 a0001c0004t0000	a0001c0004t0000g0000 a0001c0004t0000g0000	1	442	0.0023	-64	c.-47 others(75): Show c.-4725_-4662delACAAACTTCTTTGGAATTTTGTATCTAATGTATA CTTTGAATATTTTTATGAGAATATATATTT	OR6C70	ENSG00000184954.4	transcript	ENST00000327335.4	protein_coding		4662		chr12	TogoVar
OR6J1_chr14_22625929_22649352	22636337	TCTCCCTC others(57): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03471.hp2 HG03491.hp1 others(1): Show HG02897.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0004 a0002c0002t0054 a0009c0009t0002 a0002c0002t0004 a0002c0002t0054 a0009c0009t0002	a0002c0002t0004g0184 a0002c0002t0054g0268 a0009c0009t0002g0003 a0002c0002t0004g0184 a0002c0002t0054g0268 a0009c0009t0002g0003	4	362	0.0111	-64	c.-27 others(81): Show c.-27-1563_-27-1500delGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL2_chr20_62233521_62301183	62270676	CCCTCTCT others(57): Show CCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTC CTTGTCCCTCTCTGG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	348	0.0029	-64	c.259 others(81): Show c.259-1416_259-1353delCCTCTCTGGGTCCTCTCCTTGTCCCTCT CTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGG	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSBPL2_chr20_62233521_62301183	62270699	CCCTCTCT others(57): Show CCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTG GGTCCTCTCCTTGTC	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0278 a0001c0001t0024g0278	1	348	0.0029	-64	c.259 others(81): Show c.259-1416_259-1353delCCTCTCTGGGTCCTCTCCTTGTCCCTCT CTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGG	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSGEPL1_chr2_189741660_189767792	189742865	GACACACA others(57): Show GACACACACACACACACACACACACACACTAGAATTACCTGACACACACA CACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	358	0.0028	-64	c.42 others(75): Show c.4268_*4331delGTGTGTGTGTGTGTGTGTGTGTGTCAGGTAATTC TAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		3794		chr2	TogoVar
OSTF1_chr9_75083514_75152265	75128527	CATATATA others(57): Show CATATATATATATATATATTTTGTCCATATATATATATATATATATATTT TGTCCATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0359 a0001c0001t0012g0359	1	366	0.0027	-64	c.132 others(79): Show c.132+925_132+988delATTTTGTCCATATATATATATATATATATA TTTTGTCCATATATATATATATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
P2RX5_chr17_3668227_3701155	3699881	GGAAGGAA others(57): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	362	0.0028	-64	c.-39 others(75): Show c.-3940_-3877delTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3727		chr17	TogoVar
P2RY8_chrX_1457581_1542185	1524645	ACATCCAT others(57): Show ACATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01070.hp1 others(12): Show HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01258.hp1 HG01975.hp2 HG02056.hp1 HG02451.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA18961.hp1 NA18966.hp1 NA19056.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0029 a0001c0003t0012 a0002c0002t0004 a0002c0005t0006 a0006c0008t0005	a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 others(12): Show a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0101 a0001c0001t0002g0060 a0001c0001t0008g0061 a0001c0001t0014g0052 a0001c0001t0029g0054 a0001c0003t0012g0001 a0002c0002t0004g0008 a0002c0005t0006g0058 a0006c0008t0005g0051	15	114	0.1316	-64	c.-25 others(83): Show c.-25+12212_-25+12275delAGTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGAATGGATGGATGGATGGATGGATG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PACSIN1_chr6_34461076_34540223	34536172	TACTCCTC others(57): Show TACTCCTCCAAACTTACCTCTATGTGAAGCCCTGCTTTTAGCCAAACAGA GAAATCTTCAAATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	310	0.0032	-64	c.36 others(75): Show c.3643_*3706delACTCCTCCAAACTTACCTCTATGTGAAGCCCTGC TTTTAGCCAAACAGAGAAATCTTCAAATAA	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding		950		chr6	TogoVar
PAK5_chr20_9532370_9844076	9766382	ATATATGT others(57): Show ATATATGTATATATATATTCAAGCAGAATATATATGTATATATATATTCA AGCAGAATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01081.hp2 others(30): Show HG00099.hp2 HG00639.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01981.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18983.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0002c0001 a0002c0015 a0003c0003 a0007c0012	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(15): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0025 a0001c0004t0004 a0001c0005t0008 a0001c0006t0003 a0001c0009t0003 a0001c0011t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0015t0001 a0003c0003t0003 a0003c0003t0006 a0007c0012t0010	a0001c0002t0002g0045 a0001c0002t0002g0110 a0001c0002t0002g0146 others(30): Show a0001c0002t0002g0045 a0001c0002t0002g0110 a0001c0002t0002g0146 a0001c0002t0002g0158 a0001c0002t0002g0163 a0001c0002t0003g0011 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0003g0166 a0001c0002t0004g0188 a0001c0002t0006g0162 a0001c0002t0006g0169 a0001c0002t0007g0120 a0001c0002t0025g0206 a0001c0004t0004g0051 a0001c0005t0008g0200 a0001c0006t0003g0075 a0001c0006t0003g0077 a0001c0006t0003g0160 a0001c0009t0003g0003 a0001c0011t0003g0205 a0002c0001t0001g0137 a0002c0001t0001g0148 a0002c0001t0001g0164 a0002c0001t0002g0079 a0002c0001t0005g0063 a0002c0001t0005g0155 a0002c0001t0005g0173 a0002c0015t0001g0090 a0003c0003t0003g0088 a0003c0003t0003g0184 a0003c0003t0006g0072 a0007c0012t0010g0151	33	208	0.1587	-64	c.-16 others(85): Show c.-161-55011_-161-54948delCATATATATTCTGCTTGAATATAT ATATACATATATATTCTGCTTGAATATATATATACATATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035573	TTGTGTTA others(57): Show TTGTGTTATATATAACATATATAGGATATGTTGTGTGTTATATATAACAT ATATAGGATATGTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01978.hp2 NA18747.hp1 others(1): Show HG00423.hp1 HG01978.hp2 NA18747.hp1 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0021	a0001c0001t0001g0028 a0002c0002t0003g0013 a0002c0002t0004g0119 others(1): Show a0001c0001t0001g0028 a0002c0002t0003g0013 a0002c0002t0004g0119 a0002c0002t0021g0019	4	222	0.0180	-64	c.582 others(83): Show c.582+19664_582+19727delGTGTTATATATAACATATATAGGATA TGTTGTGTGTTATATATAACATATATAGGATATGTTGT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PARD6G_chr18_80152232_80252514	80208023	GGTATCAA others(57): Show GGTATCAAATCACTGCAGCATTTAGATTTCACTGTATCAAATCACTGCAG CATTTAGATTTCACT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0091 a0001c0001t0022g0091	1	382	0.0026	-64	c.73- others(79): Show c.73-5155_73-5092delAGTGAAATCTAAATGCTGCAGTGATTTGAT ACAGTGAAATCTAAATGCTGCAGTGATTTGATAC	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	1/2			chr18	TogoVar
PATL1_chr11_59631716_59674037	59672310	CTATATAT others(57): Show CTATATATATATATATATATATATATATATATATATATATATATATGGTT TTTTTTGTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG03516.hp1 HG02723.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166	3	276	0.0109	-64	c.-34 others(75): Show c.-3479_-3416delTATATATACAAAAAAAACCATATATATATATATA TATATATATATATATATATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3274		chr11	TogoVar
PAXBP1_chr21_32728899_32776755	32771885	AGAGAGAG others(57): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02647.hp1 others(13): Show HG00735.hp1 HG02109.hp1 HG02647.hp1 HG02965.hp1 HG03130.hp1 HG03540.hp2 HG03704.hp1 HG04115.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18990.hp2 NA19060.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0226	16	360	0.0444	-64	c.-28 others(73): Show c.-281_-218delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		131		chr21	TogoVar
PBX3_chr9_125742373_125972377	125899298	AATATACA others(57): Show AATATACATATATGTATATATTTTTATATAAATATATACATATATGTATA TATTTTTATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(47): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01884.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02129.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02922.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG04228.hp2 NA18939.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18979.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0002t0003 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014	a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 others(47): Show a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0018 a0001c0001t0005g0251 a0001c0001t0009g0003 a0001c0001t0009g0013 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0002t0003g0142 a0001c0002t0004g0118 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0013g0134 a0001c0002t0014g0151	50	294	0.1701	-64	c.275 others(83): Show c.275-16352_275-16289delTACATATATGTATATATTTTTATATA AATATATACATATATGTATATATTTTTATATAAATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45932974	GGCCATGC others(57): Show GGCCATGCCGTTCTGAGATGAATGAACACATCGGCCATGCTGTCTTGAGA TGAATGAACACATCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	292	0.0034	-64	c.856 others(81): Show c.856+2166_857-2179delTGCTGTCTTGAGATGAATGAACACATCA GCCATGCCGTTCTGAGATGAATGAACACATCGGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92484153	ATATATGT others(57): Show ATATATGTATATATGTATATATATGTATGTATATATATGTATATATGTAT ATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	154	0.0065	-64	c.336 others(85): Show c.3367+15837_3367+15900delGTATATATGTATATATATGTATGT ATATATATGTATATATGTATATATGTATATATATGTATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	54306999	AATATATA others(57): Show AATATATATATATATACATATATATATATATGTGTGTGTGTGTATATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0074 a0001c0001t0014g0074	1	102	0.0098	-64	c.876 others(83): Show c.876+10208_876+10271delATATATATATATATATATATATACAC ACACACACATATATATATATATGTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54307017	TATATATA others(57): Show TATATATATATATGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG02109.hp1 others(1): Show HG01167.hp1 HG01192.hp1 HG02109.hp1 HG03540.hp1	a0003 a0007 a0008 others(1): Show a0003 a0007 a0008 a0026	a0003c0003 a0007c0007 a0008c0010 others(1): Show a0003c0003 a0007c0007 a0008c0010 a0026c0033	a0003c0003t0019 a0007c0007t0003 a0008c0010t0001 others(1): Show a0003c0003t0019 a0007c0007t0003 a0008c0010t0001 a0026c0033t0017	a0003c0003t0019g0060 a0007c0007t0003g0065 a0008c0010t0001g0091 others(1): Show a0003c0003t0019g0060 a0007c0007t0003g0065 a0008c0010t0001g0091 a0026c0033t0017g0023	4	102	0.0392	-64	c.876 others(83): Show c.876+10190_876+10253delGTATATATATATATATATATATATAT ATATATATATATATACACACACACACATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54306999	AATATATA others(57): Show AATATATATATATATACATATATATATATATGTGTGTGTGTGTATATATA TATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0068 a0010c0010t0003g0068	1	94	0.0106	-64	c.876 others(83): Show c.876+10208_876+10271delATATATATATATATATATATATACAC ACACACACATATATATATATATGTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307017	TATATATA others(57): Show TATATATATATATGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03540.hp1 HG01192.hp1 HG03540.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0026 a0001c0001 a0026c0026	a0001c0001t0001 a0026c0026t0001 a0001c0001t0001 a0026c0026t0001	a0001c0001t0001g0083 a0026c0026t0001g0056 a0001c0001t0001g0083 a0026c0026t0001g0056	2	94	0.0213	-64	c.876 others(83): Show c.876+10190_876+10253delGTATATATATATATATATATATATAT ATATATATATATATACACACACACACATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCMTD2_chr20_64250748_64281226	64277674	ACTCTGAA others(57): Show ACTCTGAACAACTGTGGACCTTGTGCTTATGTCTTTCCCTTCTCTTTCTC TTGGAGACAGAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01168.hp1 others(9): Show HG00099.hp1 HG00741.hp1 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG03654.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011	a0001c0001t0005g0007 a0001c0001t0005g0032 a0001c0001t0005g0077 others(4): Show a0001c0001t0005g0007 a0001c0001t0005g0032 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0116 a0001c0001t0009g0007 a0001c0001t0011g0046	12	332	0.0361	-64	c.40 others(75): Show c.4075_*4138delCTCTGAACAACTGTGGACCTTGTGCTTATGTCTT TCCCTTCTCTTTCTCTTGGAGACAGAGATG	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding		1449		chr20	TogoVar
PCNT_chr21_46319156_46450769	46365835	CGTTCACT others(57): Show CGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCA CTGTCGTGGGGTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01515.hp1 others(40): Show HG01109.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0004 a0005 a0015 others(7): Show a0004 a0005 a0015 a0022 a0037 a0038 a0039 a0040 a0041 a0060	a0004c0004 a0004c0023 a0004c0071 others(12): Show a0004c0004 a0004c0023 a0004c0071 a0005c0008 a0005c0016 a0005c0024 a0005c0069 a0015c0025 a0022c0034 a0037c0073 a0038c0070 a0039c0068 a0040c0072 a0041c0074 a0060c0053	a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 others(14): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0023t0003 a0004c0071t0001 a0005c0008t0001 a0005c0016t0001 a0005c0024t0001 a0005c0069t0001 a0015c0025t0001 a0022c0034t0001 a0037c0073t0001 a0038c0070t0001 a0039c0068t0001 a0040c0072t0001 a0041c0074t0001 a0060c0053t0001	a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0096 others(40): Show a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0110 a0004c0004t0003g0119 a0004c0004t0006g0101 a0004c0023t0003g0091 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0071t0001g0106 a0005c0008t0001g0083 a0005c0008t0001g0084 a0005c0008t0001g0085 a0005c0008t0001g0086 a0005c0008t0001g0087 a0005c0008t0001g0088 a0005c0016t0001g0112 a0005c0016t0001g0113 a0005c0016t0001g0114 a0005c0016t0001g0116 a0005c0024t0001g0070 a0005c0024t0001g0071 a0005c0024t0001g0072 a0005c0069t0001g0095 a0015c0025t0001g0094 a0015c0025t0001g0117 a0015c0025t0001g0118 a0022c0034t0001g0324 a0022c0034t0001g0325 a0037c0073t0001g0111 a0038c0070t0001g0115 a0039c0068t0001g0069 a0040c0072t0001g0107 a0041c0074t0001g0108 a0060c0053t0001g0326	43	332	0.1295	-64	c.261 others(81): Show c.2610-737_2610-674delCAGGGTTCTGTTCACTGCCGTGGGGTTC TATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	14/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE4D_chr5_58964038_59898726	59200220	TGTATACA others(57): Show TGTATACATACATATGTGTATGTACAGCTACACGTATACATACATATGTG TATGTACAGCTACAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG03486.hp1 HG01884.hp1 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0011 a0001c0005t0004 a0001c0001t0001 a0001c0001t0011 a0001c0005t0004	a0001c0001t0001g0015 a0001c0001t0011g0017 a0001c0005t0004g0074 a0001c0001t0001g0015 a0001c0001t0011g0017 a0001c0005t0004g0074	3	74	0.0405	-64	c.648 others(81): Show c.648-6748_648-6685delTTGTAGCTGTACATACACATATGTATGT ATACGTGTAGCTGTACATACACATATGTATGTATAC	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDIA5_chr3_123062025_123167104	123151843	GCCTTCCT others(57): Show GCCTTCCTTCCTGCCCTCCTTCCTTCCTGCCCGCCTTCCTGCCTGCCTTC CTTCCTGCCTGCCTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02886.hp2 HG02976.hp2 HG01167.hp1 HG02886.hp2 HG02976.hp2	a0005 a0008 a0005 a0008	a0005c0012 a0008c0015 a0005c0012 a0008c0015	a0005c0012t0001 a0008c0015t0001 a0005c0012t0001 a0008c0015t0001	a0005c0012t0001g0049 a0005c0012t0001g0050 a0008c0015t0001g0220 a0005c0012t0001g0049 a0005c0012t0001g0050 a0008c0015t0001g0220	3	332	0.0090	-64	c.127 others(83): Show c.1273+1487_1273+1550delTCCTGCCCTCCTTCCTTCCTGCCCGC CTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDK1_chr2_172551090_172613669	172610851	TCCACCCT others(57): Show TCCACCCTCCTCGGCCTCCCATAGTGGCTGGGATTACAGGCGTGAGCCAC TGCACCCAGCCTCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0296 a0001c0001t0047g0296	1	342	0.0029	-64	c.14 others(77): Show c.14883_*14946delCCACCCTCCTCGGCCTCCCATAGTGGCTGGGA TTACAGGCGTGAGCCACTGCACCCAGCCTCTA	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding		2183		chr2	TogoVar
PDXK_chr21_43714129_43767299	43741124	CGTAGTAA others(57): Show CGTAGTAACCATCCCTGACAGTGCAGGGGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18941.hp2 NA18962.hp1 HG00408.hp2 NA18941.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0046 a0001c0001t0002 a0001c0001t0046	a0001c0001t0002g0121 a0001c0001t0002g0211 a0001c0001t0046g0027 a0001c0001t0002g0121 a0001c0001t0002g0211 a0001c0001t0046g0027	3	358	0.0084	-64	c.143 others(79): Show c.143-541_143-478delTAGTAACCATCCCTGACAGTGCAGGGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977001	GCAACCCC others(57): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCAC	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0053 a0008c0012t0002g0053	1	408	0.0025	-64	c.215 others(81): Show c.2150-441_2150-378delGTGGGGGGAGCGGGAGGCGGTTCCCGGG GTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(57): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02630.hp2 NA18959.hp2 HG00099.hp2 HG02630.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0238 a0001c0001t0001g0296 a0001c0001t0001g0162 a0001c0001t0001g0238 a0001c0001t0001g0296	3	350	0.0086	-64	c.51 others(75): Show c.5139_*5202delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PINX1_chr8_10759961_10844875	10833578	AGACGACT others(57): Show AGACGACTGGGGTGCGGGAGGCTGGAGAAGAATGACAACTGGGGTGCGGG AGGCTGGAGAAGAAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG02717.hp2 HG01255.hp2 HG01934.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0003 a0001c0006t0001 a0001c0003t0003 a0001c0006t0001	a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0006t0001g0088 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0006t0001g0088	3	352	0.0085	-64	c.130 others(79): Show c.130-658_130-595delATTCTTCTCCAGCCTCCCGCACCCCAGTTG TCATTCTTCTCCAGCCTCCCGCACCCCAGTCGTC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6			chr8	TogoVar
PIP4K2A_chr10_22529854_22719578	22664130	CATATATA others(57): Show CATATATATATACATATATATACACATATATATATATACATATATATATA TACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0022 a0003c0009t0011g0022	1	206	0.0049	-64	c.144 others(83): Show c.144+49989_144+50052delATGTATATATATGTATATATATATAT GTATATATATATATGTGTATATATATGTATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PITPNC1_chr17_67372281_67702256	67518457	TTAAATAA others(57): Show TTAAATAAATAATGGGGTTGAAATCTCTACCAGGGCTGTTTCAGTACTTA TTTGGAAGAAGGATG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01496.hp1 others(1): Show HG00735.hp1 HG01192.hp1 HG01496.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0160 a0001c0001t0003g0021 a0001c0001t0009g0159 others(1): Show a0001c0001t0001g0160 a0001c0001t0003g0021 a0001c0001t0009g0159 a0001c0001t0016g0001	4	218	0.0184	-64	c.49- others(81): Show c.49-14343_49-14280delAAATAAATAATGGGGTTGAAATCTCTAC CAGGGCTGTTTCAGTACTTATTTGGAAGAAGGATGT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PKD2L1_chr10_100283149_100335228	100314985	AGGAAGGA others(57): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG04184.hp1 HG04204.hp1 HG03486.hp2 HG04184.hp1 HG04204.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0001 a0008c0012t0001 a0001c0002t0001 a0008c0012t0001	a0001c0002t0001g0013 a0008c0012t0001g0017 a0008c0012t0001g0018 a0001c0002t0001g0013 a0008c0012t0001g0017 a0008c0012t0001g0018	3	306	0.0098	-64	c.349 others(83): Show c.349+14162_349+14225delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLCH2_chr1_2471289_2510532	2483877	GGGTGGCG others(57): Show GGGTGGCGCTGACTCCCGTGTGGGGGGGCGCTGACTCCCGTGTGGGGGGG CGCTGACTCCCGTGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0014 a0014	a0014c0048 a0014c0048	a0014c0048t0002 a0014c0048t0002	a0014c0048t0002g0124 a0014c0048t0002g0124	1	383	0.0026	-64	c.646 others(79): Show c.646-568_646-505delTGGCGCTGACTCCCGTGTGGGGGGGCGCTG ACTCCCGTGTGGGGGGGCGCTGACTCCCGTGTGG	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLEKHN1_chr1_961482_980865	977001	GCAACCCC others(57): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18988.hp1 HG03130.hp2 NA18988.hp1	a0002 a0002	a0002c0008 a0002c0017 a0002c0008 a0002c0017	a0002c0008t0009 a0002c0017t0004 a0002c0008t0009 a0002c0017t0004	a0002c0008t0009g0144 a0002c0017t0004g0101 a0002c0008t0009g0144 a0002c0017t0004g0101	2	422	0.0047	-64	c.24 others(75): Show c.2427_*2490delCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCA ACCCCGGGAACCGCCTCCCGCTCCCCCCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1137		chr1	TogoVar
PLIN2_chr9_19110761_19132492	19122486	TACCATAT others(57): Show TACCATATAGCCTAGGTATATAGCAGGCTATACACCATATAGCCTAGGTA TATAGCAGGCTATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00733.hp1 others(50): Show HG00099.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02486.hp1 HG02572.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp2 NA18945.hp2 NA18947.hp2 NA18959.hp2 NA18968.hp1 NA18972.hp2 NA18983.hp2 NA18994.hp1 NA19002.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19079.hp1 NA19083.hp2 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0005t0001 a0002c0003t0004 a0002c0003t0009	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0032 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0124 a0001c0001t0008g0055 a0001c0001t0010g0097 a0001c0005t0001g0036 a0002c0003t0004g0025 a0002c0003t0004g0026 a0002c0003t0004g0054 a0002c0003t0009g0052	53	448	0.1183	-64	c.309 others(81): Show c.309+1015_309+1078delGTATAGCCTGCTATATACCTAGGCTATA TGGTGTATAGCCTGCTATATACCTAGGCTATATGGT	PLIN2	ENSG00000147872.10	transcript	ENST00000276914.7	protein_coding	4/7			chr9	TogoVar
PLSCR4_chr3_146187335_146256105	146254969	CCAGTCTC others(57): Show CCAGTCTCAAGTGCTTCCTGTACAGCCTGCAGAACCAATTAAACCTCTTT TCTTTATAAATTACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02258.hp2 others(11): Show HG01243.hp1 HG02055.hp2 HG02258.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03927.hp2 HG03942.hp2 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(9): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0002c0002t0007 a0002c0002t0013 a0002c0002t0016 a0002c0002t0026 a0002c0002t0032 a0003c0003t0001 a0005c0005t0009 a0005c0005t0015 a0005c0005t0021	a0001c0001t0001g0010 a0001c0001t0012g0299 a0002c0002t0003g0307 others(10): Show a0001c0001t0001g0010 a0001c0001t0012g0299 a0002c0002t0003g0307 a0002c0002t0007g0306 a0002c0002t0013g0305 a0002c0002t0016g0303 a0002c0002t0026g0304 a0002c0002t0032g0302 a0003c0003t0001g0300 a0003c0003t0001g0301 a0005c0005t0009g0317 a0005c0005t0015g0318 a0005c0005t0021g0314	14	380	0.0368	-64	c.-40 others(75): Show c.-4095_-4032delAGTAATTTATAAAGAAAAGAGGTTTAATTGGTTC TGCAGGCTGTACAGGAAGCACTTGAGACTG	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		3865		chr3	TogoVar
PLXDC2_chr10_19811432_20294856	20026809	CTTTATAA others(57): Show CTTTATAATATATTCTAATATATAGAATATACTTTTATAATATATTCTAA TATATAGAATACACT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19088.hp1 HG01891.hp2 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0126 a0003c0003t0009 a0002c0002t0126 a0003c0003t0009	a0002c0002t0126g0157 a0003c0003t0009g0180 a0002c0002t0126g0157 a0003c0003t0009g0180	2	180	0.0111	-64	c.325 others(83): Show c.325-20031_325-19968delTACTTTTATAATATATTCTAATATAT AGAATACACTTTTATAATATATTCTAATATATAGAATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20026838	TACTTTTA others(57): Show TACTTTTATAATATATTCTAATATATAGAATACACTTTTATAATATATTC TAATATATAGAATAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01884.hp1 HG01975.hp1 others(6): Show HG01071.hp1 HG01884.hp1 HG01975.hp1 HG02055.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG03041.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0066 a0004c0004t0039 a0004c0004t0040 a0004c0004t0076	a0001c0001t0001g0133 a0001c0001t0004g0107 a0001c0001t0010g0013 others(6): Show a0001c0001t0001g0133 a0001c0001t0004g0107 a0001c0001t0010g0013 a0001c0001t0010g0063 a0001c0001t0017g0106 a0001c0001t0066g0170 a0004c0004t0039g0134 a0004c0004t0040g0007 a0004c0004t0076g0129	9	180	0.0500	-64	c.325 others(83): Show c.325-19814_325-19751delTAGAATACACTTTTATAATATATTCT AATATATAGAATACACTTTTATAATATATTCTAATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNC1_chr12_94143577_94312675	94177137	ATGTGTGT others(57): Show ATGTGTGTGTGTGTATATATATATGTATATATATATATACGTATATATAT GTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	298	0.0034	-64	c.120 others(83): Show c.1204-4307_1204-4244delGTGTGTGTGTGTATATATATATGTAT ATATATATATACGTATATATATGTATATATATATACGT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94177147	GTGTATAT others(57): Show GTGTATATATATATGTATATATATATATACGTATATATATGTATATATAT ATACGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01099.hp1 others(14): Show HG00140.hp2 HG00642.hp1 HG01099.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp2 HG02015.hp2 HG02040.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03654.hp2 HG04115.hp1 HG04115.hp2 NA18948.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0003c0017 a0003c0032	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0009t0001 a0001c0012t0002 a0003c0017t0005 a0003c0032t0002	a0001c0002t0001g0206 a0001c0002t0001g0232 a0001c0002t0001g0249 others(14): Show a0001c0002t0001g0206 a0001c0002t0001g0232 a0001c0002t0001g0249 a0001c0003t0001g0280 a0001c0004t0001g0025 a0001c0004t0001g0219 a0001c0004t0001g0224 a0001c0004t0003g0226 a0001c0004t0005g0209 a0001c0004t0005g0225 a0001c0004t0006g0244 a0001c0004t0006g0256 a0001c0009t0001g0247 a0001c0009t0001g0248 a0001c0012t0002g0202 a0003c0017t0005g0294 a0003c0032t0002g0211	17	298	0.0571	-64	c.120 others(83): Show c.1204-4295_1204-4232delATATATATATGTATATATATATATAC GTATATATATGTATATATATATACGTATATATATATGT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94177155	ATATATGT others(57): Show ATATATGTATATATATATATACGTATATATATGTATATATATATACGTAT ATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18950.hp1 HG03942.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0006 a0001c0006t0001 a0001c0002t0006 a0001c0006t0001	a0001c0002t0006g0297 a0001c0006t0001g0155 a0001c0002t0006g0297 a0001c0006t0001g0155	2	298	0.0067	-64	c.120 others(83): Show c.1204-4285_1204-4222delGTATATATATATATACGTATATATAT GTATATATATATACGTATATATATATGTGTGTGTATAT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
POLE_chr12_132618762_132692342	132684989	ACACAGGC others(57): Show ACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCAC ACAATCCCAGTACTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02922.hp1 NA18966.hp2 others(1): Show HG00438.hp2 HG02922.hp1 NA18966.hp2 NA19067.hp2	a0001 a0017 a0001 a0017	a0001c0002 a0017c0034 a0001c0002 a0017c0034	a0001c0002t0002 a0001c0002t0009 a0017c0034t0002 a0001c0002t0002 a0001c0002t0009 a0017c0034t0002	a0001c0002t0002g0196 a0001c0002t0002g0250 a0001c0002t0009g0249 others(1): Show a0001c0002t0002g0196 a0001c0002t0002g0250 a0001c0002t0009g0249 a0017c0034t0002g0152	4	292	0.0137	-64	c.62+ others(79): Show c.62+2201_62+2264delGAGTACTGGGATTGTGTGATACAGTAACCA GTCAATGGTAGCTCTCTGTGAATGAGAGCCTGTG	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
POTED_chr21_13604777_13650823	13645208	GACAGGCC others(57): Show GACAGGCCAACATTCAACTTCAGGAAATCCAGAGAACCTCAGTAAGATAT GCCATGAGAAGATCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	3	416	0.0072	-64	c.36 others(75): Show c.3643_*3706delACAGGCCAACATTCAACTTCAGGAAATCCAGAGA ACCTCAGTAAGATATGCCATGAGAAGATCA	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	11/11	3643		chr21	TogoVar

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