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 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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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
PADI1_chr1_17200128_17251007	17235277	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 NA19030.hp1 HG02258.hp2 HG02615.hp2 NA19030.hp1	a0002 a0008 a0002 a0008	a0002c0007 a0008c0025 a0002c0007 a0008c0025	a0002c0007t0001 a0008c0025t0001 a0002c0007t0001 a0008c0025t0001	a0002c0007t0001g0091 a0002c0007t0001g0287 a0008c0025t0001g0042 a0002c0007t0001g0091 a0002c0007t0001g0287 a0008c0025t0001g0042	3	406	0.0074	20	c.131 others(39): Show c.1314-2022_1314-2021insAGGAGGGAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235289	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG04228.hp2 others(1): Show HG00544.hp1 HG00544.hp2 HG04228.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0246 a0001c0002t0001g0272 a0001c0002t0001g0349 others(1): Show a0001c0002t0001g0246 a0001c0002t0001g0272 a0001c0002t0001g0349 a0001c0008t0001g0124	4	406	0.0099	20	c.131 others(39): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAGGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235293	G G	GGGAAGAA others(13): Show GGGAAGAAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0033 a0001c0005t0001g0033	1	406	0.0025	20	c.131 others(39): Show c.1314-2016_1314-2015insAAAGGAAGGAAGGAAGGAAG	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01081.hp2 others(5): Show HG00738.hp1 HG00741.hp1 HG01081.hp2 HG02004.hp1 HG03927.hp1 HG03942.hp1 NA18906.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0001c0008t0002	a0001c0001t0001g0122 a0001c0002t0001g0196 a0001c0002t0002g0249 others(5): Show a0001c0001t0001g0122 a0001c0002t0001g0196 a0001c0002t0002g0249 a0001c0002t0002g0327 a0001c0006t0002g0118 a0001c0006t0002g0285 a0001c0006t0002g0298 a0001c0008t0002g0222	8	406	0.0197	20	c.43 others(31): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PADI2_chr1_17061761_17124451	17087488	G G	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02074.hp2 others(2): Show HG00408.hp2 HG00544.hp2 HG02074.hp2 HG03209.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005	a0001c0002t0001g0146 a0001c0002t0001g0193 a0001c0003t0001g0051 others(2): Show a0001c0002t0001g0146 a0001c0002t0001g0193 a0001c0003t0001g0051 a0001c0003t0001g0058 a0001c0003t0005g0347	5	356	0.0140	20	c.656 others(35): Show c.656-790_656-789insTAAATAAATAAATAAATAAA	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	6/15			chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01081.hp1 others(4): Show HG00738.hp2 HG00741.hp2 HG01081.hp1 HG02004.hp2 HG03942.hp1 NA18972.hp1 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0022 a0001c0002 a0001c0005 a0001c0022	a0001c0002t0001 a0001c0005t0006 a0001c0022t0006 a0001c0002t0001 a0001c0005t0006 a0001c0022t0006	a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0005t0006g0008 others(3): Show a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0005t0006g0008 a0001c0005t0006g0070 a0001c0005t0006g0072 a0001c0022t0006g0019	7	368	0.0190	20	c.-50 others(29): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding		461		chr1	TogoVar
PADI6_chr1_17367196_17406699	17375975	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	412	0.0024	20	c.367 others(35): Show c.367+485_367+486insTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02965.hp2 others(1): Show HG02055.hp1 HG02257.hp2 HG02965.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0005 a0001c0002t0005 a0002c0005t0005 a0001c0001t0005 a0001c0002t0005 a0002c0005t0005	a0001c0001t0005g0293 a0001c0001t0005g0303 a0001c0002t0005g0048 others(1): Show a0001c0001t0005g0293 a0001c0001t0005g0303 a0001c0002t0005g0048 a0002c0005t0005g0344	4	412	0.0097	20	c.368 others(35): Show c.368-807_368-788dupTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17398658	C C	CCCCACCC others(13): Show CCCCACCCACCCACCCACCCA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19011.hp2 NA18984.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0180 a0001c0001t0002g0144 a0001c0001t0002g0180	2	412	0.0049	20	c.169 others(35): Show c.1690-25_1690-24insACCCACCCACCCACCCACCC	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(13): Show GTTTGTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG03471.hp1 HG01123.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0061 a0001c0001t0050g0066 a0001c0001t0050g0061 a0001c0001t0050g0066	2	432	0.0046	20	c.75 others(29): Show c.750_*751insGTTTTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAGE1_chrX_49682447_49700984	49690113	A A	ATATATAT others(13): Show ATATATATGTGTATATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp1 HG02109.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0057 a0001c0001t0001g0058	2	322	0.0062	20	c.293 others(35): Show c.293-571_293-570insCACATATATACACATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102895869	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0302 a0001c0004t0008g0302	1	312	0.0032	20	c.169 others(35): Show c.169-971_169-952dupATATATATATATATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102897465	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0001 a0001c0010t0001g0001	2	312	0.0064	20	c.169 others(37): Show c.169-2567_169-2548dupTATATATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102897492	T T	TATATATA others(13): Show TATATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0239 a0001c0009t0013g0239	1	312	0.0032	20	c.169 others(37): Show c.169-2575_169-2574insTTATATATGTATATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102897492	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp2 HG02717.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0004 a0001c0001t0004 a0001c0006t0004	a0001c0001t0004g0232 a0001c0006t0004g0297 a0001c0001t0004g0232 a0001c0006t0004g0297	2	312	0.0064	20	c.169 others(37): Show c.169-2575_169-2574insTTATATATATATATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	312	0.0032	20	c.169 others(37): Show c.169-4960_169-4941dupTTTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01258.hp2 others(18): Show HG00738.hp2 HG00741.hp2 HG01258.hp2 HG01346.hp2 HG01952.hp2 HG02071.hp2 HG02148.hp2 HG02300.hp2 HG03239.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18941.hp1 NA18942.hp2 NA18970.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp1 NA18995.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 others(18): Show a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0298	21	350	0.0600	20	c.125 others(39): Show c.1253-1797_1253-1778dupTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18977.hp1 NA19057.hp1 others(3): Show NA18972.hp2 NA18977.hp1 NA19057.hp1 NA19085.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0162 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0202	6	302	0.0199	20	c.-21 others(39): Show c.-21-36535_-21-36516dupTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02074.hp1 NA19088.hp1 HG00558.hp1 HG02074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0032	3	178	0.0169	20	c.-48 others(31): Show c.-4885_-4884insAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196751674	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0151 a0001c0002t0013g0151	1	178	0.0056	20	c.-22 others(39): Show c.-22+11519_-22+11538dupTATATATATATATATATATA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196807690	A A	AGGTTAAA others(13): Show AGGTTAAAAATCAAAGAACTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	178	0.0056	20	c.577 others(33): Show c.577-91_577-72dupGGTTAAAAATCAAAGAACTG	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833460	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0119 a0001c0001t0009g0119	1	178	0.0056	20	c.50 others(31): Show c.5055_*5056insATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		814		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833462	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0053 a0001c0001t0037g0053	1	178	0.0056	20	c.50 others(31): Show c.5057_*5058insATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		816		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 NA18954.hp2 NA19085.hp1 HG00280.hp2 NA18954.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0026 a0001c0001t0001g0167 a0001c0001t0015g0169 a0001c0001t0001g0026 a0001c0001t0001g0167 a0001c0001t0015g0169	3	178	0.0169	20	c.50 others(31): Show c.5063_*5064insATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0130 a0001c0001t0039g0130	1	178	0.0056	20	c.50 others(31): Show c.5065_*5066insATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0161 a0001c0001t0054g0161	1	178	0.0056	20	c.58 others(31): Show c.5847_*5848insAAAAAAAAAAAAAAAAACAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK3_chrX_111091191_111232361	111160440	C C	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0167 a0001c0001t0011g0167	1	195	0.0051	20	c.469 others(37): Show c.469-2464_469-2445dupATTTTATTTTATTTTATTTT	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK4_chr19_39120786_39184404	39136247	T T	TCCGCACA others(13): Show TCCGCACACAGCCAGAGGTAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0018 a0001c0016t0018	a0001c0016t0018g0241 a0001c0016t0018g0241	1	368	0.0027	20	c.-96 others(39): Show c.-96+10332_-96+10351dupCACACAGCCAGAGGTAGCCG	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165515	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02965.hp1 HG02129.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0094 a0001c0002t0007g0024 a0001c0001t0001g0094 a0001c0002t0007g0024	2	368	0.0054	20	c.-95 others(37): Show c.-95-2695_-95-2676dupTAAATAAATAAATAAATAAA	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9558043	T T	TATTTATT others(13): Show TATTTATTTATTCATTCATTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	208	0.0048	20	c.161 others(37): Show c.1617-310_1617-309insGAATGAATGAATAAATAAAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	6/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9558043	T T	TATTTATT others(13): Show TATTTATTTATTTATTCATTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0205 a0001c0011t0003g0205	1	208	0.0048	20	c.161 others(37): Show c.1617-310_1617-309insGAATGAATAAATAAATAAAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	6/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9771582	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04228.hp2 NA18949.hp1 others(2): Show HG02056.hp1 HG04228.hp2 NA18949.hp1 NA18995.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0001 a0002c0001t0009 a0001c0004t0004 a0002c0001t0001 a0002c0001t0009	a0001c0004t0004g0018 a0001c0004t0004g0108 a0001c0004t0004g0195 others(2): Show a0001c0004t0004g0018 a0001c0004t0004g0108 a0001c0004t0004g0195 a0002c0001t0001g0187 a0002c0001t0009g0194	5	208	0.0240	20	c.-16 others(41): Show c.-161-60148_-161-60147insAAAAAAAAAAAAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(7): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG01081.hp1 HG01106.hp1 HG02602.hp2 HG03017.hp1 NA18943.hp1 NA18949.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0002c0007 others(1): Show a0001c0002 a0002c0001 a0002c0007 a0003c0003	a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 others(4): Show a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 a0002c0001t0009 a0002c0007t0001 a0002c0007t0016 a0003c0003t0003	a0001c0002t0002g0129 a0001c0002t0003g0157 a0002c0001t0001g0030 others(7): Show a0001c0002t0002g0129 a0001c0002t0003g0157 a0002c0001t0001g0030 a0002c0001t0001g0036 a0002c0001t0001g0047 a0002c0001t0001g0170 a0002c0001t0009g0194 a0002c0007t0001g0014 a0002c0007t0016g0208 a0003c0003t0003g0192	10	208	0.0481	20	c.-16 others(41): Show c.-162+35832_-162+35851dupTATATATATATATATATATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02040.hp1 HG02155.hp2 others(5): Show HG01109.hp2 HG02040.hp1 HG02155.hp2 HG03471.hp2 HG04204.hp2 NA18979.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0002c0007 a0003c0003	a0001c0002t0002 a0001c0002t0006 a0001c0004t0004 others(4): Show a0001c0002t0002 a0001c0002t0006 a0001c0004t0004 a0001c0005t0008 a0002c0007t0001 a0003c0003t0003 a0003c0003t0006	a0001c0002t0002g0167 a0001c0002t0006g0105 a0001c0004t0004g0060 others(5): Show a0001c0002t0002g0167 a0001c0002t0006g0105 a0001c0004t0004g0060 a0001c0004t0004g0127 a0001c0005t0008g0130 a0002c0007t0001g0102 a0003c0003t0003g0029 a0003c0003t0006g0072	8	208	0.0385	20	c.-16 others(41): Show c.-162+35851_-162+35852insTATATATATATATATACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0110 a0002c0001t0001g0010 a0001c0002t0002g0110 a0002c0001t0001g0010	2	208	0.0096	20	c.-16 others(41): Show c.-162+35851_-162+35852insTATATATATATATACACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG03834.hp1 others(9): Show HG00140.hp1 HG00639.hp1 HG03834.hp1 HG04184.hp1 NA18945.hp2 NA18952.hp2 NA18967.hp1 NA18985.hp2 NA18992.hp2 NA19007.hp2 NA19063.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0026 a0001c0001t0031 a0001c0001t0045 others(6): Show a0001c0001t0026 a0001c0001t0031 a0001c0001t0045 a0001c0001t0070 a0002c0003t0006 a0002c0003t0071 a0003c0004t0006 a0003c0004t0019 a0003c0004t0025	a0001c0001t0026g0392 a0001c0001t0031g0329 a0001c0001t0045g0171 others(9): Show a0001c0001t0026g0392 a0001c0001t0031g0329 a0001c0001t0045g0171 a0001c0001t0070g0176 a0002c0003t0006g0046 a0002c0003t0071g0272 a0003c0004t0006g0045 a0003c0004t0006g0049 a0003c0004t0006g0050 a0003c0004t0006g0145 a0003c0004t0019g0267 a0003c0004t0025g0247	12	426	0.0282	20	c.187 others(37): Show c.1879-644_1879-625dupTTTTTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAK6_chr15_40234063_40282487	40276749	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0054 a0002c0003t0054	a0002c0003t0054g0024 a0002c0003t0054g0024	1	426	0.0024	20	c.67 others(29): Show c.676_*695dupGTGTGTGTGTGTGTGTGTGT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	11/11	696	INFO_REALIGN_3_PRIME	chr15	TogoVar
PALB2_chr16_23598165_23646310	23608795	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0220 a0003c0003t0001g0220	1	326	0.0031	20	c.320 others(37): Show c.3202-784_3202-783insGTGTGTGTGTGTGTGTGTGT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	11/12			chr16	TogoVar
PALB2_chr16_23598165_23646310	23608797	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp1 HG02965.hp1 others(14): Show HG01099.hp1 HG02300.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG03239.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18947.hp1 NA18973.hp2 NA18980.hp2 NA18990.hp1 NA18997.hp1 NA19012.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0259 others(14): Show a0002c0002t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0282 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0294 a0003c0003t0001g0219 a0003c0003t0001g0221 a0003c0003t0002g0042	17	326	0.0522	20	c.320 others(37): Show c.3202-786_3202-785insGTGTGTGTGTGTGTGTGTGT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	11/12			chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	326	0.0031	20	c.-39 others(31): Show c.-3981_-3980insAAAAAAAAAATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70501813	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01361.hp2 others(3): Show HG00323.hp1 HG00642.hp1 HG01361.hp2 HG03017.hp1 HG03710.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0016 a0004c0005t0005 a0004c0005t0013 a0001c0001t0016 a0004c0005t0005 a0004c0005t0013	a0001c0001t0016g0268 a0004c0005t0005g0082 a0004c0005t0005g0130 others(3): Show a0001c0001t0016g0268 a0004c0005t0005g0082 a0004c0005t0005g0130 a0004c0005t0005g0251 a0004c0005t0013g0262 a0004c0005t0013g0271	6	308	0.0195	20	c.-30 others(39): Show c.-30+22757_-30+22776dupTGTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70501834	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00621.hp1 others(22): Show HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02293.hp1 HG02523.hp2 HG03834.hp1 HG03927.hp2 NA18950.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18990.hp1 NA19007.hp1 NA19065.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0028 a0001c0001 a0002c0002 a0017c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0051 a0002c0002t0002 a0017c0028t0011	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0002g0062 a0001c0001t0002g0077 a0001c0001t0002g0170 a0001c0001t0003g0252 a0001c0001t0011g0040 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0051g0025 a0002c0002t0002g0088 a0017c0028t0011g0263	25	308	0.0812	20	c.-30 others(39): Show c.-30+22776_-30+22777insTGTGTGTGTGTGTGTGCGCG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70501834	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	308	0.0033	20	c.-30 others(39): Show c.-30+22776_-30+22777insTGTGTGTGTGTGTGTGTGCG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02965.hp2 others(1): Show HG02145.hp2 HG02486.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 others(1): Show a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 a0001c0001t0007g0238	4	308	0.0130	20	c.-29 others(39): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70553170	C C	CTCATTCC others(13): Show CTCATTCCATCTACATTAATT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0129 a0001c0006t0008g0129	1	308	0.0033	20	c.226 others(39): Show c.2262+5725_2262+5744dupTCATTCCATCTACATTAATT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(13): Show TCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	308	0.0033	20	c.226 others(39): Show c.2262+7537_2262+7538insCCCCTCCCCTCCCCTCCCCT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168557032	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01952.hp2 HG00735.hp2 HG01175.hp2 HG01952.hp2	a0002 a0004 a0002 a0004	a0002c0007 a0002c0017 a0004c0011 a0002c0007 a0002c0017 a0004c0011	a0002c0007t0001 a0002c0017t0003 a0004c0011t0001 a0002c0007t0001 a0002c0017t0003 a0004c0011t0001	a0002c0007t0001g0025 a0002c0017t0003g0084 a0004c0011t0001g0083 a0002c0007t0001g0025 a0002c0017t0003g0084 a0004c0011t0001g0083	3	156	0.0192	20	c.908 others(39): Show c.908+44631_908+44650dupTTTTGTTTTGTTTTGTTTTG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625500	G G	GAGATAGA others(13): Show GAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	156	0.0064	20	c.909 others(39): Show c.909-42685_909-42684insGATAGATAGATAGATAGATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(13): Show GATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp1 HG01884.hp2 others(3): Show HG01071.hp1 HG01261.hp1 HG01884.hp2 HG02897.hp2 HG03516.hp2 NA19043.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0004t0017 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0017 a0002c0003t0003 a0002c0003t0009 a0005c0026t0004	a0001c0001t0001g0017 a0001c0001t0002g0111 a0001c0004t0017g0048 others(3): Show a0001c0001t0001g0017 a0001c0001t0002g0111 a0001c0004t0017g0048 a0002c0003t0003g0088 a0002c0003t0009g0094 a0005c0026t0004g0015	6	156	0.0385	20	c.909 others(39): Show c.909-42685_909-42684insGATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03139.hp2 HG01081.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0010 a0002c0018t0007 a0001c0002t0010 a0002c0018t0007	a0001c0002t0010g0144 a0002c0018t0007g0012 a0001c0002t0010g0144 a0002c0018t0007g0012	2	156	0.0128	20	c.196 others(41): Show c.1964+73935_1964+73954dupTATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar

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