Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
P4HA1_chr10_73002217_73101866	73028307	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02155.hp2 HG02523.hp2 HG02071.hp2 HG02155.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0056 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0056	3	234	0.0128	-18	c.124 others(37): Show c.1248+1946_1248+1963delGTGTGTGTGTGTGTGTGT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	10/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73037557	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19085.hp1 HG03486.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0029 a0001c0002t0004g0073 a0001c0001t0002g0029 a0001c0002t0004g0073	2	234	0.0086	-18	c.114 others(37): Show c.1149-7205_1149-7188delAAAATATATATATATATA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093869	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18986.hp2 NA19043.hp1 HG00408.hp2 NA18986.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0005g0087 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0005g0087	3	234	0.0128	-18	c.-33 others(35): Show c.-33+2879_-33+2896delATATATATATATATTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093871	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02040.hp1 HG02155.hp2 others(4): Show HG01081.hp1 HG02040.hp1 HG02155.hp2 HG03834.hp1 NA18949.hp2 NA18978.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(4): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0051 a0001c0001t0008g0053	7	234	0.0299	-18	c.-33 others(35): Show c.-33+2877_-33+2894delATATATATATATATATTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093891	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01884.hp1 HG02523.hp2 HG00423.hp1 HG01884.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0005g0094 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0005g0094	3	234	0.0128	-18	c.-33 others(35): Show c.-33+2857_-33+2874delGTATATATATATATATAT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
PAAF1_chr11_73871999_73936114	73908337	GTGTATAT others(11): Show GTGTATATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0270 a0003c0003t0002g0270	1	370	0.0027	-18	c.533 others(35): Show c.533-1058_533-1041delATATATGTGTATATATGT	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABPC1L2A_chrX_73072276_73084512	73079477	CTCGGCCG others(11): Show CTCGGCCGCCACCTTCGCA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0000 a0001c0001t0016g0000	1	274	0.0037	-18	c.-10 others(26): Show c.-109_-92delTGCGAAGGTGGCGGCCGA	PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding	1/1	92		chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73007780	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	294	0.0102	-18	c.35 others(29): Show c.3536_*3553delATATATATATATATATAT	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		1675		chrX	TogoVar
PACRGL_chr4_20695458_20737557	20703494	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	412	0.0024	-18	c.-16 others(33): Show c.-16-960_-16-943delGTGTGTTTGTGTGTGTGT	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRGL_chr4_20695458_20737557	20729471	CTAATTTT others(11): Show CTAATTTTTAAATGTTTAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01074.hp2 others(35): Show HG00642.hp1 HG00642.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0032 a0001c0001t0049 a0001c0001t0004 a0001c0001t0032 a0001c0001t0049	a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 others(23): Show a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0032g0111 a0001c0001t0049g0167	38	412	0.0922	-18	c.21 others(29): Show c.2149_*2166delTAATTTTTAAATGTTTAA	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	2149	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162747325	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	130	0.0077	-18	c.156 others(37): Show c.156+18956_156+18973delTATATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947631	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	130	0.0077	-18	c.292 others(39): Show c.292-114517_292-114500delTATATATATATATATACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958872	TATATATA others(11): Show TATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0085 a0001c0001t0017g0085	1	130	0.0077	-18	c.292 others(39): Show c.292-103276_292-103259delTATATATATATAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958874	TATATATA others(11): Show TATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG02572.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0103 a0001c0001t0001g0108	2	130	0.0154	-18	c.292 others(39): Show c.292-103274_292-103257delTATATATATAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958876	TATATATA others(11): Show TATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	130	0.0077	-18	c.292 others(39): Show c.292-103272_292-103255delTATATATAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958880	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	130	0.0077	-18	c.292 others(39): Show c.292-103268_292-103251delTATAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958882	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0066 a0001c0001t0001g0052 a0001c0001t0002g0066	2	130	0.0154	-18	c.292 others(39): Show c.292-103266_292-103249delTAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163006005	TTATATGT others(11): Show TTATATGTTATATACATTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02559.hp2 others(5): Show HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG03139.hp2 HG06807.hp2 NA18522.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0003t0003	a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0002g0003 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0086 a0001c0001t0002g0116 a0001c0001t0003g0068 a0001c0001t0013g0013 a0001c0003t0003g0065	8	130	0.0615	-18	c.292 others(37): Show c.292-56131_292-56114delCATTATATATGTTATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163290276	GCGCACAC others(11): Show GCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01169.hp2 others(11): Show HG00140.hp2 HG00741.hp2 HG01169.hp2 HG01257.hp2 HG01981.hp1 HG02257.hp1 HG02615.hp1 HG03017.hp1 HG04204.hp2 NA18945.hp2 NA18955.hp1 NA18965.hp1 NA18971.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0002g0112 a0001c0001t0005g0071 a0001c0001t0007g0094	14	130	0.1077	-18	c.614 others(37): Show c.614-24549_614-24532delGCACACACACACACACAC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163290278	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	130	0.0077	-18	c.614 others(37): Show c.614-24520_614-24503delCACACACACACACACACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319487	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01255.hp1 others(9): Show HG00741.hp1 HG01109.hp1 HG01255.hp1 HG01257.hp1 HG02004.hp2 HG03195.hp2 NA18906.hp1 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0020 a0001c0001t0002g0037 a0001c0001t0002g0039 others(9): Show a0001c0001t0001g0020 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0005g0081 a0001c0001t0005g0083	12	130	0.0923	-18	c.45 others(29): Show c.4501_*4518delATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		3988		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319521	TATATATA others(11): Show TATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	130	0.0077	-18	c.45 others(29): Show c.4535_*4552delATATATATATATATATAC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4022		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319527	TATATATA others(11): Show TATATATATATACATAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0022 a0001c0001t0003g0049 a0001c0001t0001g0001 a0001c0001t0003g0022 a0001c0001t0003g0049	3	130	0.0231	-18	c.45 others(29): Show c.4541_*4558delATATATATATACATAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4028		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319529	TATATATA others(11): Show TATATATATACATAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0027 a0001c0002t0010g0027	1	130	0.0077	-18	c.45 others(29): Show c.4543_*4560delATATATATACATAGAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4030		chr6	TogoVar
PACS1_chr11_66065272_66249744	66156204	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(50): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 NA18944.hp2 NA18953.hp2 NA18963.hp2 NA19004.hp2 NA19005.hp2 NA19057.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 a0001c0001 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0008t0002 a0002c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0242 a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0002g0136 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0320 a0001c0001t0006g0255 a0001c0001t0006g0292 a0001c0001t0007g0075 a0001c0008t0002g0254 a0002c0004t0002g0082	53	322	0.1646	-18	c.357 others(37): Show c.357-37249_357-37232delTATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66215902	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03486.hp1 HG01109.hp2 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0082 a0002c0004t0002g0083 a0002c0004t0002g0082 a0002c0004t0002g0083	2	322	0.0062	-18	c.661 others(33): Show c.661-184_661-167delTAATAATAATAATAATAA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66243999	ATGTCGTG others(11): Show ATGTCGTGTGTGTCCTGAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0139 a0001c0001t0008g0139	1	322	0.0031	-18	c.72 others(27): Show c.723_*740delCGTGTGTGTCCTGAGTGT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	24/24	723	INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN1_chr6_34461076_34540223	34462414	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00738.hp2 others(31): Show HG00280.hp1 HG00423.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02056.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18982.hp1 NA19057.hp1 NA19065.hp1 NA19068.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023 a0002c0002t0002 a0002c0002t0024	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 others(31): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0003g0056 a0001c0001t0005g0021 a0001c0001t0008g0047 a0001c0001t0011g0040 a0001c0001t0021g0014 a0001c0001t0023g0036 a0002c0002t0002g0033 a0002c0002t0002g0175 a0002c0002t0024g0224	34	310	0.1097	-18	c.-39 others(29): Show c.-3919_-3902delGTGTGTGTGTGTGTGTGT	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding		3661		chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42980491	CCCCTCCC others(11): Show CCCCTCCCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp1 HG02572.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0023 a0001c0005t0005 a0001c0005t0023	a0001c0005t0005g0286 a0001c0005t0023g0281 a0001c0005t0005g0286 a0001c0005t0023g0281	2	294	0.0068	-18	c.-78 others(37): Show c.-78+34512_-78+34529delAGAGGGAGAGGGGGAGGG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42987479	CACACACA others(11): Show CACACACACACACACCCAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA20805.hp1 HG02809.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0009 a0001c0001t0001 a0001c0003t0009	a0001c0001t0001g0148 a0001c0003t0009g0080 a0001c0001t0001g0148 a0001c0003t0009g0080	2	294	0.0068	-18	c.-78 others(37): Show c.-78+27524_-78+27541delATGGGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN3_chr11_47172522_47191434	47174367	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	364	0.0028	-18	c.35 others(29): Show c.3546_*3563delAAAAAAAAAAAAAAAAAA	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		3154		chr11	TogoVar
PADI2_chr1_17061761_17124451	17108060	TGCCTCAG others(11): Show TGCCTCAGCCTCTGGAGTA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0027 a0001c0006t0002g0027	1	356	0.0028	-18	c.93- others(33): Show c.93-3017_93-3000delTACTCCAGAGGCTGAGGC	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PADI3_chr1_17244098_17289233	17268876	CTAAATCT others(11): Show CTAAATCTGACTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	368	0.0027	-18	c.652 others(33): Show c.652+916_652+933delAAATCTGACTTTTTTTTT	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621605	GTCTTTTT others(11): Show GTCTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0205 a0001c0004t0036g0205	1	280	0.0036	-18	c.-19 others(39): Show c.-190-16492_-190-16475delCTTTTTTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621607	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	280	0.0036	-18	c.-19 others(39): Show c.-190-16473_-190-16456delTTTTTTTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172348	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03831.hp2 HG03942.hp2 others(2): Show HG03017.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0070 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0070 a0001c0001t0091	a0001c0001t0006g0034 a0001c0001t0014g0034 a0001c0001t0014g0226 others(2): Show a0001c0001t0006g0034 a0001c0001t0014g0034 a0001c0001t0014g0226 a0001c0001t0070g0214 a0001c0001t0091g0293	5	432	0.0116	-18	c.46 others(29): Show c.4650_*4667delTATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1304		chr11	TogoVar
PAH_chr12_102831889_102922244	102882659	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0210 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0002g0210 a0001c0001t0004g0285 a0001c0001t0004g0286	3	312	0.0096	-18	c.353 others(35): Show c.353-5127_353-5110delTTATATATATATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	3/12			chr12	TogoVar
PAICS_chr4_56431260_56469578	56438371	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01069.hp2 others(86): Show HG00597.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02630.hp1 HG03098.hp2 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04199.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19055.hp2 NA19058.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19077.hp2 NA19078.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0001t0057 a0001c0001t0058 a0001c0001t0067 a0005c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 others(58): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0161 a0001c0001t0002g0176 a0001c0001t0005g0006 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0009g0018 a0001c0001t0009g0022 a0001c0001t0009g0066 a0001c0001t0009g0088 a0001c0001t0018g0006 a0001c0001t0019g0181 a0001c0001t0019g0182 a0001c0001t0020g0001 a0001c0001t0020g0115 a0001c0001t0036g0001 a0001c0001t0037g0080 a0001c0001t0040g0023 a0001c0001t0041g0090 a0001c0001t0048g0163 a0001c0001t0057g0112 a0001c0001t0058g0178 a0001c0001t0067g0165 a0005c0006t0002g0049	89	380	0.2342	-18	c.16+ others(33): Show c.16+2058_16+2075delTATATATATATATATATA	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAK1_chr11_77317017_77479094	77429056	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 NA18947.hp2 HG02145.hp2 NA18522.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0188 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0001g0188 a0001c0001t0010g0301 a0001c0001t0010g0302	3	302	0.0099	-18	c.-21 others(37): Show c.-21-36533_-21-36516delTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429077	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(47): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00733.hp2 HG01081.hp1 HG01496.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02723.hp1 HG03516.hp2 HG03669.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA19001.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19081.hp1 NA19087.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0252 a0001c0001t0003g0184 a0001c0001t0003g0185 others(47): Show a0001c0001t0002g0252 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0011g0278	50	302	0.1656	-18	c.-21 others(37): Show c.-21-36554_-21-36537delGTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429079	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAACAC	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	302	0.0033	-18	c.-21 others(37): Show c.-21-36556_-21-36539delGTGTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751660	AATTTATT others(11): Show AATTTATTTATATACATAT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0073 a0001c0001t0016g0073	1	178	0.0056	-18	c.-22 others(37): Show c.-22+11506_-22+11523delTTATTTATATACATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811205	TCCTTCCC others(11): Show TCCTTCCCTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 NA20905.hp1 HG02451.hp1 HG03209.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0060 a0001c0001t0063 a0001c0002t0005 a0001c0001t0060 a0001c0001t0063 a0001c0002t0005	a0001c0001t0060g0107 a0001c0001t0063g0109 a0001c0002t0005g0047 a0001c0001t0060g0107 a0001c0001t0063g0109 a0001c0002t0005g0047	3	178	0.0169	-18	c.773 others(33): Show c.773+566_773+583delCCCTCCCTTCCCTTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK3_chrX_111091191_111232361	111219190	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02257.hp2 others(11): Show HG01243.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG02723.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0023 others(2): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032	a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0146 others(11): Show a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0022g0186 a0001c0001t0023g0171 a0001c0001t0031g0190 a0001c0001t0032g0193	14	195	0.0718	-18	c.154 others(37): Show c.1546-1138_1546-1121delTAATAATAATAATAATAA	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK4_chr19_39120786_39184404	39123872	GGAAGGAA others(11): Show GGAAGGAAAGAAAGAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(86): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02738.hp2 HG02976.hp1 HG03139.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA19004.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19086.hp1 NA20300.hp2 NA20752.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0007 a0001c0019 others(2): Show a0001c0001 a0001c0007 a0001c0019 a0006c0017 a0009c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0007t0002 a0001c0019t0002 a0006c0017t0004 a0009c0014t0002	a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 others(85): Show a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0004g0003 a0001c0001t0004g0275 a0001c0001t0004g0281 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0336 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0010g0283 a0001c0001t0010g0284 a0001c0001t0015g0311 a0001c0001t0016g0285 a0001c0001t0017g0286 a0001c0007t0002g0320 a0001c0007t0002g0321 a0001c0019t0002g0322 a0006c0017t0004g0361 a0009c0014t0002g0339	89	368	0.2419	-18	c.-21 others(29): Show c.-2142_-2125delGAAGGAAAGAAAGAGAAA	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding		1913		chr19	TogoVar
PAK4_chr19_39120786_39184404	39135324	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03579.hp1 others(1): Show HG02280.hp2 HG02965.hp1 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0021 a0001c0002t0007g0022 a0001c0002t0007g0023 others(1): Show a0001c0002t0007g0021 a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0007g0024	4	368	0.0109	-18	c.-96 others(35): Show c.-96+9417_-96+9434delTTTTTTTTTTTTTTTTTT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALB2_chr16_23598165_23646310	23645083	CTATATAT others(11): Show CTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03927.hp1 HG03927.hp2 HG02280.hp2 HG03927.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0001c0001t0001 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0146 a0002c0002t0001g0050 a0002c0006t0001g0153 a0001c0001t0001g0146 a0002c0002t0001g0050 a0002c0006t0001g0153	3	326	0.0092	-18	c.-39 others(29): Show c.-3944_-3927delTATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALD1_chr10_70473767_70573450	70507750	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG02559.hp2 others(11): Show HG00735.hp2 HG02145.hp1 HG02559.hp2 HG02622.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0022	a0001c0001 a0001c0004 a0004c0032 others(3): Show a0001c0001 a0001c0004 a0004c0032 a0006c0008 a0007c0012 a0022c0035	a0001c0001t0006 a0001c0001t0015 a0001c0004t0010 others(6): Show a0001c0001t0006 a0001c0001t0015 a0001c0004t0010 a0001c0004t0014 a0004c0032t0015 a0006c0008t0006 a0006c0008t0027 a0007c0012t0008 a0022c0035t0009	a0001c0001t0006g0284 a0001c0001t0015g0229 a0001c0004t0010g0246 others(11): Show a0001c0001t0006g0284 a0001c0001t0015g0229 a0001c0004t0010g0246 a0001c0004t0010g0293 a0001c0004t0014g0179 a0004c0032t0015g0275 a0006c0008t0006g0072 a0006c0008t0006g0128 a0006c0008t0006g0162 a0006c0008t0006g0199 a0006c0008t0027g0235 a0007c0012t0008g0127 a0007c0012t0008g0244 a0022c0035t0009g0185	14	308	0.0455	-18	c.-29 others(37): Show c.-29-18149_-29-18132delTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70545038	GGGCACCG others(11): Show GGGCACCGGGCAGGTGCCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02647.hp2 HG02717.hp2 others(6): Show HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG03209.hp1 NA18612.hp1 NA18945.hp2 NA18983.hp2 NA19066.hp1	a0005 a0011 a0005 a0011	a0005c0009 a0005c0015 a0011c0017 a0005c0009 a0005c0015 a0011c0017	a0005c0009t0004 a0005c0009t0005 a0005c0015t0014 others(2): Show a0005c0009t0004 a0005c0009t0005 a0005c0015t0014 a0005c0015t0042 a0011c0017t0002	a0005c0009t0004g0053 a0005c0009t0004g0111 a0005c0009t0004g0112 others(6): Show a0005c0009t0004g0053 a0005c0009t0004g0111 a0005c0009t0004g0112 a0005c0009t0004g0152 a0005c0009t0005g0083 a0005c0015t0014g0249 a0005c0015t0042g0264 a0011c0017t0002g0184 a0011c0017t0002g0300	9	308	0.0292	-18	c.212 others(37): Show c.2122-2261_2122-2244delGGGCAGGTGCCAGGCACC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168680481	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 NA19043.hp2 HG02965.hp1 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0006 a0001c0004t0018 a0001c0004t0003 a0001c0004t0006 a0001c0004t0018	a0001c0004t0003g0020 a0001c0004t0006g0096 a0001c0004t0018g0021 a0001c0004t0003g0020 a0001c0004t0006g0096 a0001c0004t0018g0021	3	156	0.0192	-18	c.108 others(35): Show c.1088-839_1088-822delAAAAAAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results