Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
P4HA1_chr10_73002217_73101866	73049128	A A	AAAAAAAA others(2): Show AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(91): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19075.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0002t0004 a0001c0002t0013	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(91): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0199 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0008g0053 a0001c0001t0010g0004 a0001c0001t0014g0090 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0013g0078	94	234	0.4017	9	c.900 others(26): Show c.900+1924_900+1925insCTTTTTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	7/14			chr10	TogoVar
P4HA2_chr5_132185147_132232853	132188280	A A	AAATAATA others(2): Show AAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03098.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG03098.hp1 HG04199.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0024 a0001c0001t0002 a0001c0001t0011 a0001c0001t0024	a0001c0001t0002g0271 a0001c0001t0011g0258 a0001c0001t0011g0304 others(2): Show a0001c0001t0002g0271 a0001c0001t0011g0258 a0001c0001t0011g0304 a0001c0001t0011g0305 a0001c0001t0024g0202	5	426	0.0117	9	c.47 others(20): Show c.4729_*4730insATTATTATT	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding		1866		chr5	TogoVar
P4HA3_chr11_74261657_74316640	74281869	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02257.hp1 others(21): Show HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG04228.hp2 NA18943.hp1 NA18977.hp2 NA18984.hp1 NA18999.hp1 NA19003.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0111 a0001c0001t0001g0168 others(19): Show a0001c0001t0001g0040 a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0002g0033 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0004c0006t0001g0237 a0004c0006t0001g0238	24	398	0.0603	9	c.111 others(28): Show c.1111-2426_1111-2418dupTATTATTAT	P4HA3	ENSG00000149380.12	transcript	ENST00000331597.9	protein_coding	7/12			chr11	TogoVar
PABIR2_chrX_134764566_134802205	134788369	T T	TATATGTG others(2): Show TATATGTGTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	217	0.0046	9	c.435 others(24): Show c.435+352_435+360dupTACACATAT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR3_chrX_134802237_134859832	134849869	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18965.hp1 NA19004.hp1 others(2): Show HG01167.hp1 NA18965.hp1 NA19004.hp1 NA19063.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0124 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0179	5	199	0.0251	9	c.589 others(24): Show c.589+651_589+659dupTTTTTTTTT	PABIR3	ENSG00000156500.16	transcript	ENST00000645433.2	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PABPC1L2A_chrX_73072276_73084512	73080217	C C	CGGGGCTG others(2): Show CGGGGCTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	274	0.0037	9	c.-83 others(18): Show c.-832_-831insCGCAGCCCC	PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding		706		chrX	TogoVar
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(2): Show ATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01255.hp1 HG01255.hp2 others(13): Show HG00544.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG02273.hp1 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG04184.hp2 NA18949.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA19004.hp2 NA19009.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0070	16	374	0.0428	9	c.30 others(20): Show c.3034_*3035insAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PACRGL_chr4_20695458_20737557	20729466	A A	AACTAATT others(2): Show AACTAATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01070.hp2 others(50): Show HG00639.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02280.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03540.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp2 NA18988.hp2 NA19001.hp1 NA19004.hp1 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 others(5): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 a0001c0001t0030 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0052	a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0018 others(23): Show a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0018 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0041 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0013g0003 a0001c0001t0019g0018 a0001c0001t0019g0124 a0001c0001t0030g0127 a0001c0001t0043g0114 a0001c0001t0044g0003 a0001c0001t0050g0120 a0001c0001t0052g0003	53	412	0.1286	9	c.21 others(20): Show c.2125_*2126insACTAATTTT	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	2126		chr4	TogoVar
PACRG_chr6_162722974_163320500	162852004	G G	GAAGGAAG others(2): Show GAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(5): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG02257.hp1 HG03017.hp2 HG04204.hp1 NA18989.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0029 a0001c0001t0004g0073 a0001c0001t0007g0125	8	130	0.0615	9	c.291 others(28): Show c.291+37723_291+37724insAAGGAAGGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4			chr6	TogoVar
PACRG_chr6_162722974_163320500	162852012	G G	GAAGGAAG others(2): Show GAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0001t0003g0002 a0001c0001t0003g0015	2	130	0.0154	9	c.291 others(28): Show c.291+37733_291+37741dupAGGAAGGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162861049	T T	TGGACAAG others(2): Show TGGACAAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02976.hp2 others(3): Show HG02559.hp2 HG02647.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0003 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0003 a0001c0001t0003g0091 a0001c0001t0003g0105 a0001c0001t0003g0106	6	130	0.0462	9	c.291 others(28): Show c.291+46771_291+46779dupACAAGGAGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162884723	C C	CGTCTCTT others(2): Show CGTCTCTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02572.hp2 others(7): Show HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03453.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0018	a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0043 others(7): Show a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0003g0014 a0001c0001t0003g0068 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0009g0088 a0001c0002t0018g0063	10	130	0.0769	9	c.291 others(28): Show c.291+70445_291+70453dupCTCTTCTGT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947364	A A	ATGATTAT others(2): Show ATGATTATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0054 a0001c0001t0001g0103 a0001c0001t0002g0054	2	130	0.0154	9	c.292 others(30): Show c.292-114786_292-114785insTGATTATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4			chr6	TogoVar
PACRG_chr6_162722974_163320500	162969046	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG01943.hp1 others(13): Show HG00280.hp1 HG01243.hp1 HG01943.hp1 HG02257.hp1 HG02258.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03453.hp1 NA18522.hp2 NA18971.hp2 NA18989.hp1 NA19060.hp2 NA19063.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0038 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0002g0067 a0001c0001t0003g0014 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0014g0109 a0001c0004t0003g0045	16	130	0.1231	9	c.292 others(28): Show c.292-93092_292-93084dupAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163168558	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(109): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18989.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0002t0010 a0001c0002t0018 a0001c0003t0003 a0001c0003t0009 a0001c0004t0003 a0001c0004t0011	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0007g0094 a0001c0001t0007g0125 a0001c0001t0008g0069 a0001c0001t0009g0088 a0001c0001t0013g0013 a0001c0001t0014g0109 a0001c0001t0017g0085 a0001c0002t0010g0027 a0001c0002t0010g0064 a0001c0002t0018g0063 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0009g0080 a0001c0004t0003g0045 a0001c0004t0011g0034	112	130	0.8615	9	c.613 others(28): Show c.613+79153_613+79161dupCAACAACAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163175744	A A	AAGGAGGA others(2): Show AAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18989.hp1 HG03516.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0003g0025 a0001c0001t0001g0123 a0001c0001t0003g0025	2	130	0.0154	9	c.613 others(28): Show c.613+86366_613+86374dupGAGGAGGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66081406	T T	TCCGTCTT others(2): Show TCCGTCTTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp1 NA18522.hp1 HG02615.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0311 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0001g0311 a0001c0001t0005g0206 a0001c0001t0005g0207	3	322	0.0093	9	c.356 others(28): Show c.356+10566_356+10574dupCGTCTTCCC	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG02559.hp2 others(3): Show HG00438.hp2 HG02135.hp1 HG02559.hp2 NA19004.hp2 NA19068.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0001 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0011g0057 a0001c0001t0013g0130	6	294	0.0204	9	c.-78 others(28): Show c.-78+32143_-78+32151dupTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42987530	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01884.hp1 HG02055.hp1 others(20): Show HG00099.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG03041.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0003t0004 a0001c0003t0010 a0001c0005t0005 a0001c0005t0023 a0002c0004t0003	a0001c0001t0001g0182 a0001c0001t0002g0186 a0001c0001t0002g0187 others(20): Show a0001c0001t0001g0182 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0254 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0002t0003g0025 a0001c0002t0003g0041 a0001c0002t0003g0082 a0001c0002t0003g0279 a0001c0003t0004g0288 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0010g0071 a0001c0005t0005g0282 a0001c0005t0005g0283 a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0023g0281 a0002c0004t0003g0250	23	294	0.0782	9	c.-78 others(28): Show c.-78+27482_-78+27490dupAAAAAAAAA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATTT others(2): Show ATATATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18952.hp1 NA18964.hp2 others(3): Show HG00423.hp1 NA18952.hp1 NA18964.hp2 NA18992.hp1 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0001g0265	6	294	0.0204	9	c.-78 others(26): Show c.-78+4622_-78+4623insAAAAATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17215378	T T	TTCATCAT others(2): Show TTCATCATCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp1 others(34): Show HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp2 NA18522.hp1 NA18967.hp1 NA18967.hp2 NA18997.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19068.hp2 NA20905.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0011c0022	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0014 a0001c0003t0015 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0011c0022t0001	a0001c0001t0001g0071 a0001c0001t0001g0262 a0001c0001t0001g0270 others(33): Show a0001c0001t0001g0071 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0008g0389 a0001c0001t0021g0338 a0001c0002t0001g0007 a0001c0002t0001g0041 a0001c0002t0001g0060 a0001c0002t0001g0260 a0001c0002t0001g0268 a0001c0002t0001g0306 a0001c0002t0001g0372 a0001c0002t0002g0327 a0001c0003t0001g0080 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0195 a0001c0003t0001g0271 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0309 a0001c0003t0014g0328 a0001c0003t0015g0192 a0001c0004t0001g0193 a0001c0004t0001g0205 a0001c0004t0001g0388 a0001c0005t0001g0104 a0001c0005t0001g0204 a0001c0005t0001g0206 a0001c0005t0001g0207 a0001c0006t0001g0182 a0011c0022t0001g0190	37	406	0.0911	9	c.93- others(24): Show c.93-6903_93-6895dupATCATCATC	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17303761	C C	CTCCTCTG others(2): Show CTCCTCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(200): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018	a0001c0001 a0001c0005 a0001c0009 others(25): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011 a0002c0002 a0002c0004 a0002c0010 a0002c0015 a0002c0021 a0002c0022 a0002c0030 a0003c0003 a0004c0006 a0005c0008 a0006c0007 a0007c0014 a0007c0031 a0008c0012 a0009c0013 a0010c0026 a0010c0028 a0011c0018 a0012c0020 a0013c0019 a0015c0023 a0016c0027 a0017c0029 a0018c0024	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0009t0003 a0001c0011t0001 a0002c0002t0001 a0002c0004t0001 a0002c0010t0001 a0002c0015t0001 a0002c0021t0001 a0002c0021t0002 a0002c0022t0001 a0002c0030t0001 a0003c0003t0001 a0004c0006t0001 a0005c0008t0001 a0006c0007t0001 a0007c0014t0001 a0007c0014t0004 a0007c0031t0001 a0008c0012t0001 a0009c0013t0001 a0010c0026t0001 a0010c0028t0002 a0011c0018t0001 a0012c0020t0001 a0013c0019t0001 a0015c0023t0001 a0016c0027t0001 a0017c0029t0006 a0018c0024t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0017 others(197): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0337 a0001c0005t0001g0256 a0001c0009t0003g0176 a0001c0011t0001g0007 a0001c0011t0001g0251 a0001c0011t0001g0341 a0002c0002t0001g0005 a0002c0002t0001g0024 a0002c0002t0001g0188 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0004t0001g0004 a0002c0004t0001g0167 a0002c0004t0001g0190 a0002c0004t0001g0192 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0305 a0002c0004t0001g0338 a0002c0010t0001g0215 a0002c0010t0001g0342 a0002c0010t0001g0343 a0002c0015t0001g0016 a0002c0015t0001g0307 a0002c0015t0001g0329 a0002c0021t0001g0013 a0002c0021t0002g0014 a0002c0022t0001g0280 a0002c0022t0001g0281 a0002c0030t0001g0311 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0302 a0004c0006t0001g0253 a0004c0006t0001g0260 a0004c0006t0001g0301 a0004c0006t0001g0304 a0005c0008t0001g0360 a0005c0008t0001g0361 a0005c0008t0001g0362 a0005c0008t0001g0363 a0006c0007t0001g0364 a0006c0007t0001g0365 a0006c0007t0001g0366 a0006c0007t0001g0367 a0007c0014t0001g0254 a0007c0014t0004g0189 a0007c0031t0001g0267 a0008c0012t0001g0186 a0008c0012t0001g0187 a0008c0012t0001g0198 a0009c0013t0001g0269 a0009c0013t0001g0270 a0009c0013t0001g0291 a0010c0026t0001g0209 a0010c0028t0002g0191 a0011c0018t0001g0168 a0011c0018t0001g0169 a0012c0020t0001g0193 a0012c0020t0001g0194 a0013c0019t0001g0213 a0013c0019t0001g0214 a0015c0023t0001g0264 a0016c0027t0001g0023 a0017c0029t0006g0015 a0018c0024t0002g0199	203	372	0.5457	9	c.-44 others(20): Show c.-4462_-4461insTCCTCTGAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding		4435		chr1	TogoVar
PADI4_chr1_17303197_17369004	17303763	C C	CCTCTGAG others(2): Show CCTCTGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02630.hp1 others(2): Show HG02055.hp2 HG02257.hp1 HG02630.hp1 HG03098.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 others(2): Show a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0002g0008 a0002c0002t0002g0010	5	372	0.0134	9	c.-44 others(20): Show c.-4460_-4459insCTCTGAGTA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding		4433		chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTG others(2): Show GTTTGTTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(42): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01361.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG02056.hp2 HG02135.hp1 HG02155.hp2 HG02300.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG03540.hp1 HG03710.hp1 HG03834.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18966.hp2 NA18973.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA19007.hp2 NA19066.hp1 NA19068.hp2 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0044 others(2): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0044 a0001c0001t0075 a0001c0001t0076	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0035 others(29): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0267 a0001c0001t0003g0273 a0001c0001t0003g0280 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0266 a0001c0001t0015g0271 a0001c0001t0044g0002 a0001c0001t0044g0264 a0001c0001t0075g0227 a0001c0001t0076g0003	45	432	0.1042	9	c.75 others(18): Show c.750_*751insGTTGTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAG1_chr8_80962810_81117068	81085972	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02145.hp1 HG02280.hp1 others(3): Show HG01069.hp1 HG02145.hp1 HG02280.hp1 HG02809.hp1 HG02818.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0012 a0001c0002t0061 a0001c0002t0083 others(3): Show a0001c0001t0012 a0001c0002t0061 a0001c0002t0083 a0001c0003t0008 a0001c0003t0034 a0001c0003t0073	a0001c0001t0012g0034 a0001c0002t0061g0017 a0001c0002t0083g0243 others(3): Show a0001c0001t0012g0034 a0001c0002t0061g0017 a0001c0002t0083g0243 a0001c0003t0008g0172 a0001c0003t0034g0239 a0001c0003t0073g0230	6	256	0.0234	9	c.-23 others(30): Show c.-233-15811_-233-15803dupAAAAAAAAA	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	1/8			chr8	TogoVar
PAGE1_chrX_49682447_49700984	49689575	A A	AAAAAAAT others(2): Show AAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	322	0.0031	9	c.293 others(22): Show c.293-33_293-32insATATTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689575	A A	AAAAATAT others(2): Show AAAAATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19004.hp1 HG00597.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0197 a0001c0001t0001g0213	2	322	0.0062	9	c.293 others(22): Show c.293-33_293-32insATATATTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689575	A A	AAATATAT others(2): Show AAATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	322	0.0031	9	c.293 others(22): Show c.293-33_293-32insATATATATT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689575	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19012.hp1 HG02735.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0072 a0001c0003t0001g0271 a0001c0001t0001g0072 a0001c0003t0001g0271	2	322	0.0062	9	c.293 others(22): Show c.293-33_293-32insATATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49700235	T T	TTCCTCCT others(2): Show TTCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	322	0.0031	9	c.-43 others(20): Show c.-4376_-4375insGAAGGAGGA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding		4252		chrX	TogoVar
PAGE1_chrX_49682447_49700984	49700255	A A	AAGATAAA others(2): Show AAGATAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	322	0.0031	9	c.-43 others(20): Show c.-4396_-4395insCCTTTATCT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding		4272		chrX	TogoVar
PAGE5_chrX_55215346_55229108	55227855	A A	AGGGTGTA others(2): Show AGGGTGTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	9	c.38 others(20): Show c.3852_*3853insGGGTGTAAC	PAGE5	ENSG00000158639.13	transcript	ENST00000374955.8	protein_coding		3748		chrX	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02004.hp2 HG02109.hp1 others(11): Show HG01261.hp2 HG02004.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG03017.hp1 HG03195.hp2 HG03710.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0002 a0001c0001t0012 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0004t0002 a0001c0004t0007 a0001c0009t0013	a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0161 others(10): Show a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0161 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0217 a0001c0001t0012g0146 a0001c0004t0002g0150 a0001c0004t0007g0145 a0001c0009t0013g0240	14	312	0.0449	9	c.169 others(26): Show c.169-4949_169-4941dupTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAICS_chr4_56431260_56469578	56438403	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18997.hp2 NA20752.hp1 NA18994.hp1 NA18997.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0237 a0001c0001t0001g0257 a0001c0001t0028g0188 a0001c0001t0001g0237 a0001c0001t0001g0257 a0001c0001t0028g0188	3	380	0.0079	9	c.16+ others(24): Show c.16+2075_16+2076insTATATATAT	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8			chr4	TogoVar
PAK1_chr11_77317017_77479094	77477567	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02451.hp1 HG02970.hp2 others(3): Show HG01943.hp2 HG02451.hp1 HG02970.hp2 HG03130.hp1 HG03579.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0229 a0001c0001t0003g0246 a0001c0001t0003g0255 others(3): Show a0001c0001t0001g0229 a0001c0001t0003g0246 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0277	6	302	0.0199	9	c.-40 others(20): Show c.-4038_-4037insTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding		3474		chr11	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(2): Show TCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(30): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01515.hp1 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02300.hp2 HG02622.hp2 HG02683.hp2 HG02897.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18970.hp1 NA18971.hp2 NA19002.hp1 NA19043.hp2 NA19079.hp1 NA19079.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0043 a0001c0001t0048 a0001c0001t0050 a0001c0001t0054 a0001c0001t0058 a0001c0001t0064 a0001c0002t0013 a0001c0002t0032	a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0135 others(30): Show a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0173 a0001c0001t0007g0029 a0001c0001t0007g0132 a0001c0001t0011g0152 a0001c0001t0012g0128 a0001c0001t0012g0129 a0001c0001t0015g0005 a0001c0001t0015g0169 a0001c0001t0023g0123 a0001c0001t0023g0172 a0001c0001t0024g0007 a0001c0001t0025g0116 a0001c0001t0025g0121 a0001c0001t0043g0117 a0001c0001t0048g0139 a0001c0001t0050g0137 a0001c0001t0054g0161 a0001c0001t0058g0099 a0001c0001t0064g0112 a0001c0002t0013g0151 a0001c0002t0032g0149	33	178	0.1854	9	c.773 others(24): Show c.773+546_773+554dupCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811248	C C	CTCCCTCC others(2): Show CTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050	3	178	0.0169	9	c.773 others(24): Show c.773+599_773+600insTCCCTTCCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833458	A A	ATATATAT others(2): Show ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA20129.hp2 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0048 a0001c0001t0031g0050 a0001c0001t0005g0048 a0001c0001t0031g0050	2	178	0.0112	9	c.50 others(20): Show c.5053_*5054insTATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		812		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833460	A A	ATATATAT others(2): Show ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0001t0010 a0001c0002t0010	a0001c0001t0010g0133 a0001c0002t0010g0105 a0001c0001t0010g0133 a0001c0002t0010g0105	2	178	0.0112	9	c.50 others(20): Show c.5055_*5056insTATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		814		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833462	A A	ATATATAT others(2): Show ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA20300.hp1 HG02630.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0036 a0001c0001t0021 a0001c0001t0036	a0001c0001t0021g0042 a0001c0001t0036g0041 a0001c0001t0021g0042 a0001c0001t0036g0041	2	178	0.0112	9	c.50 others(20): Show c.5057_*5058insTATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		816		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	ATATATAT others(2): Show ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0036 a0001c0001t0004g0037	2	178	0.0112	9	c.50 others(20): Show c.5065_*5066insTATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK3_chrX_111091191_111232361	111122427	C C	CCAACATT others(2): Show CCAACATTTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp1 NA18612.hp1 others(7): Show HG02056.hp1 HG02129.hp1 NA18612.hp1 NA18944.hp1 NA18990.hp1 NA19058.hp1 NA19067.hp1 NA19075.hp1 NA19082.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0012g0084 a0001c0001t0016g0058 a0001c0001t0018g0111	10	195	0.0513	9	c.-27 others(24): Show c.-27-648_-27-640dupAACATTTGC	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111219190	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01099.hp1 others(9): Show HG00642.hp1 HG01069.hp1 HG01099.hp1 HG02735.hp1 NA18966.hp1 NA18967.hp1 NA18982.hp1 NA19030.hp2 NA19055.hp1 NA19075.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0075 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0066 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0005g0140 a0001c0001t0012g0084 a0001c0001t0014g0006 a0001c0001t0014g0017	12	195	0.0615	9	c.154 others(28): Show c.1546-1129_1546-1121dupTAATAATAA	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK3_chrX_111091191_111232361	111219235	T T	TAATAATA others(2): Show TAATAATAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	195	0.0051	9	c.154 others(28): Show c.1546-1121_1546-1120insTAATAAGAA	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK4_chr19_39120786_39184404	39148466	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(77): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0021 a0001c0001 a0001c0018 a0001c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0018t0001 a0001c0021t0005	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0365 a0001c0001t0004g0275 a0001c0001t0004g0294 a0001c0001t0004g0350 a0001c0001t0004g0355 a0001c0001t0005g0095 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0013g0263 a0001c0001t0014g0096 a0001c0001t0014g0097 a0001c0001t0017g0286 a0001c0018t0001g0080 a0001c0021t0005g0004	80	368	0.2174	9	c.-95 others(28): Show c.-95-19751_-95-19743dupTTTTTTTTT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165192	G G	GATAATAA others(2): Show GATAATAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02738.hp1 HG03041.hp1 others(6): Show HG02257.hp1 HG02738.hp1 HG03041.hp1 HG03486.hp2 HG03654.hp2 HG03704.hp2 NA18522.hp1 NA18961.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0246 a0001c0001t0002g0307 a0001c0001t0002g0348 others(6): Show a0001c0001t0001g0246 a0001c0001t0002g0307 a0001c0001t0002g0348 a0001c0001t0003g0030 a0001c0001t0003g0133 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0273 a0001c0001t0019g0005	9	368	0.0245	9	c.-95 others(26): Show c.-95-3036_-95-3035insAATAATAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165554	A A	ATAAATAA others(2): Show ATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(39): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01106.hp2 HG01261.hp2 HG01346.hp2 HG01975.hp1 HG02040.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG03041.hp1 HG03239.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18993.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19087.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0013 a0001c0001 a0001c0007 a0006c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0007t0002 a0006c0013t0003	a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0002g0312 others(39): Show a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0324 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0003g0037 a0001c0001t0003g0043 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0123 a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0159 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0215 a0001c0001t0004g0336 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0015g0311 a0001c0007t0002g0320 a0001c0007t0002g0321 a0006c0013t0003g0121	42	368	0.1141	9	c.-95 others(26): Show c.-95-2676_-95-2675insTAAATAAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9			chr19	TogoVar
PAK5_chr20_9532370_9844076	9665085	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02602.hp2 HG02735.hp2 others(8): Show HG01515.hp2 HG02602.hp2 HG02735.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0002c0001 a0002c0007	a0001c0002t0002 a0001c0002t0007 a0001c0002t0025 others(4): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0025 a0001c0004t0004 a0001c0005t0008 a0002c0001t0001 a0002c0007t0001	a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0134 others(8): Show a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0007g0203 a0001c0002t0025g0206 a0001c0004t0004g0046 a0001c0005t0008g0052 a0002c0001t0001g0030 a0002c0001t0001g0187 a0002c0007t0001g0014	11	208	0.0529	9	c.-11 others(28): Show c.-11-20755_-11-20747dupAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9717084	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02723.hp2 HG02886.hp1 others(3): Show HG00642.hp1 HG02723.hp2 HG02886.hp1 HG03130.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0009 a0003c0003 others(1): Show a0001c0002 a0001c0009 a0003c0003 a0007c0012	a0001c0002t0006 a0001c0002t0007 a0001c0009t0006 others(2): Show a0001c0002t0006 a0001c0002t0007 a0001c0009t0006 a0003c0003t0006 a0007c0012t0010	a0001c0002t0006g0008 a0001c0002t0006g0044 a0001c0002t0007g0203 others(3): Show a0001c0002t0006g0008 a0001c0002t0006g0044 a0001c0002t0007g0203 a0001c0009t0006g0006 a0003c0003t0006g0072 a0007c0012t0010g0151	6	208	0.0289	9	c.-16 others(28): Show c.-161-5658_-161-5650dupTTTTTTTTT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9771582	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(56): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG01106.hp2 HG01109.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02300.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18954.hp2 NA18962.hp1 NA18983.hp1 NA18988.hp1 NA19010.hp2 NA19012.hp1 NA19070.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0005 others(5): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0002c0001 a0002c0007 a0002c0017 a0003c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 others(20): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0022 a0001c0002t0025 a0001c0004t0004 a0001c0004t0015 a0001c0004t0018 a0001c0005t0008 a0001c0005t0010 a0001c0009t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0013 a0002c0001t0014 a0002c0007t0001 a0002c0007t0005 a0002c0017t0009 a0003c0003t0003 a0003c0003t0006 a0003c0003t0012	a0001c0002t0002g0016 a0001c0002t0002g0045 a0001c0002t0002g0096 others(56): Show a0001c0002t0002g0016 a0001c0002t0002g0045 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0129 a0001c0002t0002g0139 a0001c0002t0002g0152 a0001c0002t0002g0167 a0001c0002t0002g0198 a0001c0002t0004g0086 a0001c0002t0004g0188 a0001c0002t0006g0005 a0001c0002t0006g0105 a0001c0002t0007g0009 a0001c0002t0007g0068 a0001c0002t0007g0091 a0001c0002t0007g0111 a0001c0002t0007g0120 a0001c0002t0022g0109 a0001c0002t0025g0206 a0001c0004t0004g0020 a0001c0004t0004g0050 a0001c0004t0015g0098 a0001c0004t0018g0040 a0001c0005t0008g0130 a0001c0005t0010g0159 a0001c0009t0003g0168 a0002c0001t0001g0010 a0002c0001t0001g0012 a0002c0001t0001g0015 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0030 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0073 a0002c0001t0001g0125 a0002c0001t0001g0133 a0002c0001t0001g0197 a0002c0001t0002g0079 a0002c0001t0005g0007 a0002c0001t0005g0032 a0002c0001t0005g0074 a0002c0001t0005g0097 a0002c0001t0005g0140 a0002c0001t0013g0183 a0002c0001t0014g0119 a0002c0007t0001g0102 a0002c0007t0005g0141 a0002c0017t0009g0196 a0003c0003t0003g0025 a0003c0003t0003g0088 a0003c0003t0003g0113 a0003c0003t0003g0144 a0003c0003t0003g0184 a0003c0003t0003g0199 a0003c0003t0006g0124 a0003c0003t0012g0024 a0003c0003t0012g0126	59	208	0.2837	9	c.-16 others(30): Show c.-161-60156_-161-60148dupAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)