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
PABPN1_chr14_23316457_23331163	23328990	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02647.hp1 others(2): Show HG02257.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	5	428	0.0117	-13	c.37 others(24): Show c.3705_*3717delTTTTTTTTTTTTT	PABPN1	ENSG00000100836.11	transcript	ENST00000216727.9	protein_coding		2828		chr14	TogoVar
PACRGL_chr4_20695458_20737557	20729048	GAATTTTG others(6): Show GAATTTTGCTTGCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(101): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18946.hp1 NA18949.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19007.hp1 NA19043.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0006 a0005c0003 a0001c0001 a0003c0006 a0005c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0003c0006t0005 a0005c0003t0007	a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 others(64): 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 a0001c0001t0005g0004 a0001c0001t0005g0031 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0061 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0169 a0001c0001t0007g0016 a0001c0001t0007g0036 a0001c0001t0011g0015 a0001c0001t0011g0051 a0001c0001t0014g0020 a0001c0001t0021g0030 a0001c0001t0022g0049 a0001c0001t0022g0050 a0001c0001t0023g0052 a0001c0001t0023g0054 a0001c0001t0024g0033 a0001c0001t0025g0153 a0001c0001t0025g0165 a0001c0001t0029g0035 a0001c0001t0046g0015 a0001c0001t0047g0053 a0001c0001t0048g0072 a0001c0001t0049g0167 a0001c0001t0051g0048 a0001c0001t0054g0059 a0001c0001t0056g0004 a0003c0006t0005g0068 a0005c0003t0007g0016	104	412	0.2524	-13	c.17 others(24): Show c.1721_*1733delAATTTTGCTTGCT	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	1721	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162861276	AATTCAAT others(6): Show AATTCAATTGGCTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	130	0.0077	-13	c.291 others(32): Show c.291+46998_291+47010delTCAATTGGCTGAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163131315	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(57): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03704.hp2 HG04204.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp1 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp2 NA19012.hp2 NA19063.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0002t0010 a0001c0002t0018 a0001c0003t0009 a0001c0004t0011	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 others(57): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0049 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0120 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0005g0071 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0006g0011 a0001c0001t0007g0125 a0001c0001t0008g0074 a0001c0001t0012g0010 a0001c0001t0017g0085 a0001c0002t0010g0027 a0001c0002t0010g0064 a0001c0002t0018g0063 a0001c0003t0009g0080 a0001c0004t0011g0034	60	130	0.4615	-13	c.613 others(32): Show c.613+41917_613+41929delAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163224368	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG03195.hp1 others(4): Show HG02145.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0002g0039 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0002g0039 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0015g0062 a0001c0001t0016g0059	7	130	0.0539	-13	c.614 others(32): Show c.614-90445_614-90433delAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269881	GAAAGAAA others(6): Show GAAAGAAAGAAAAC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	130	0.0077	-13	c.614 others(32): Show c.614-44934_614-44922delACAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269918	GAAAGAAA others(6): Show GAAAGAAAGAAAAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG02145.hp1 others(2): Show HG00280.hp2 HG00741.hp1 HG02145.hp1 HG03486.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0060 a0001c0001t0002g0096 a0001c0001t0003g0018 others(2): Show a0001c0001t0001g0060 a0001c0001t0002g0096 a0001c0001t0003g0018 a0001c0001t0005g0083 a0001c0001t0015g0062	5	130	0.0385	-13	c.614 others(32): Show c.614-44897_614-44885delACAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163280394	CTGGTAGG others(6): Show CTGGTAGGGGTTAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG03516.hp1 others(1): Show HG02615.hp2 HG03209.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0003t0003g0061	4	130	0.0308	-13	c.614 others(32): Show c.614-34432_614-34420delTGGTAGGGGTTAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4			chr6	TogoVar
PACS1_chr11_66065272_66249744	66096205	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20129.hp1 HG01884.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0321 a0001c0001t0001g0302 a0001c0001t0001g0321	2	322	0.0062	-13	c.356 others(32): Show c.356+25367_356+25379delCTTTTTTTTTTTT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66096209	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18982.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0007 a0001c0001 a0001c0011 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0011t0001 a0003c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(92): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0108 a0001c0001t0007g0072 a0001c0001t0007g0075 a0001c0001t0009g0106 a0001c0001t0010g0107 a0001c0011t0001g0002 a0003c0007t0001g0112	95	322	0.2950	-13	c.356 others(32): Show c.356+25379_356+25391delTTTTTTTTTTTTT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202739	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	322	0.0031	-13	c.445 others(30): Show c.445-7621_445-7609delAAATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202741	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	322	0.0031	-13	c.445 others(30): Show c.445-7619_445-7607delATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202743	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00639.hp2 others(18): Show HG00140.hp2 HG00558.hp1 HG00639.hp2 HG01346.hp1 HG01433.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 NA18948.hp1 NA18950.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0011t0001 a0001c0001t0001 a0001c0001t0007 a0001c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0070 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0305 a0001c0001t0007g0075 a0001c0011t0001g0002	21	322	0.0652	-13	c.445 others(30): Show c.445-7618_445-7606delTATATATATATAT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23			chr11	TogoVar
PACS1_chr11_66065272_66249744	66215941	TAATAATA others(6): Show TAATAATAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG02976.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0309 a0001c0001t0001g0058 a0001c0001t0001g0309	2	322	0.0062	-13	c.661 others(28): Show c.661-175_661-163delTAATAATAAACAA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42871846	CCCCAGGG others(6): Show CCCCAGGGCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01168.hp1 others(7): Show HG00140.hp2 HG00323.hp2 HG01168.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG02602.hp1 HG03239.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0270 others(7): Show a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0007g0267 a0001c0002t0007g0268 a0001c0002t0007g0272	10	294	0.0340	-13	c.134 others(30): Show c.1349-390_1349-378delCCGGGGCCCTGGG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	10/10			chr22	TogoVar
PACSIN3_chr11_47172522_47191434	47174367	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG04115.hp2 HG03209.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	2	364	0.0055	-13	c.35 others(24): Show c.3551_*3563delAAAAAAAAAAAAA	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		3154		chr11	TogoVar
PADI3_chr1_17244098_17289233	17275436	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp1 HG02886.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0101 a0001c0001t0015g0099 a0001c0001t0005g0101 a0001c0001t0015g0099	2	368	0.0054	-13	c.130 others(30): Show c.1307+661_1307+673delAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17368518	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02258.hp1 others(2): Show HG01167.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp2 HG02818.hp1	a0001 a0009 a0015 a0001 a0009 a0015	a0001c0001 a0001c0011 a0009c0012 others(1): Show a0001c0001 a0001c0011 a0009c0012 a0015c0029	a0001c0001t0001 a0001c0011t0001 a0009c0012t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0009c0012t0001 a0015c0029t0006	a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0011t0001g0251 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0011t0001g0251 a0009c0012t0001g0198 a0015c0029t0006g0015	5	372	0.0134	-13	c.47 others(24): Show c.4764_*4776delAAAAAAAAAAAAA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding		4515		chr1	TogoVar
PADI6_chr1_17367196_17406699	17368518	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02258.hp2 others(2): Show HG01167.hp2 HG02145.hp1 HG02258.hp2 HG02717.hp2 HG02818.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0009 a0001c0001 a0002c0005 a0004c0009	a0001c0001t0002 a0002c0005t0002 a0002c0005t0009 others(1): Show a0001c0001t0002 a0002c0005t0002 a0002c0005t0009 a0004c0009t0002	a0001c0001t0002g0062 a0002c0005t0002g0052 a0002c0005t0002g0053 others(2): Show a0001c0001t0002g0062 a0002c0005t0002g0052 a0002c0005t0002g0053 a0002c0005t0009g0061 a0004c0009t0002g0060	5	412	0.0121	-13	c.-37 others(24): Show c.-3727_-3715delAAAAAAAAAAAAA	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding		3677		chr1	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(6): Show CTTTCTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG03579.hp1 NA19043.hp1 others(1): Show HG01069.hp1 HG03579.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014	4	368	0.0109	-13	c.-22 others(24): Show c.-2221_-2209delAAAAGAAAAGAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1967		chr19	TogoVar
PAFAH1B1_chr17_2588654_2690615	2599971	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	1	280	0.0036	-13	c.-19 others(32): Show c.-191+5978_-191+5990delTTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621605	GTCTTTTT others(6): Show GTCTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01884.hp2 others(12): Show HG01167.hp1 HG01243.hp1 HG01884.hp2 HG02257.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042	a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0008g0141 others(12): Show a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0016 a0001c0001t0012g0279 a0001c0001t0013g0218 a0001c0001t0015g0280 a0001c0001t0039g0146 a0001c0001t0041g0139 a0001c0001t0042g0015	15	280	0.0536	-13	c.-19 others(34): Show c.-190-16492_-190-16480delCTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172389	TATATATA others(6): Show TATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	432	0.0023	-13	c.46 others(24): Show c.4691_*4703delATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1345		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172391	TATATATA others(6): Show TATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-13	c.46 others(24): Show c.4693_*4705delATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1347		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172392	ATATATAT others(6): Show ATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 NA19063.hp1 HG03654.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0172 a0001c0001t0007g0207 a0001c0001t0001g0172 a0001c0001t0007g0207	2	432	0.0046	-13	c.46 others(24): Show c.4694_*4706delTATATATATATAT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1348		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172396	ATATATAT others(6): Show ATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18969.hp1 HG03490.hp1 HG03492.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0001 a0001c0001t0001g0148	3	432	0.0069	-13	c.46 others(24): Show c.4698_*4710delTATATATATTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1352		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172398	ATATATAT others(6): Show ATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-13	c.47 others(24): Show c.4700_*4712delTATATATTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1354		chr11	TogoVar
PAGE1_chrX_49682447_49700984	49700161	TCCTAGTG others(6): Show TCCTAGTGGGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	322	0.0031	-13	c.-43 others(24): Show c.-4314_-4302delCAAACCCACTAGG	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding		4178		chrX	TogoVar
PAGR1_chr16_29811152_29827489	29824211	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00673.hp1 others(19): Show HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01109.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18989.hp1 NA19062.hp1 NA19077.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0024	a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0008g0005 others(3): Show a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0008g0005 a0001c0001t0008g0011 a0001c0001t0010g0012 a0001c0001t0024g0034	22	328	0.0671	-13	c.44 others(24): Show c.4458_*4470delAAAAAAAAAAAAA	PAGR1	ENSG00000280789.2	transcript	ENST00000320330.8	protein_coding		1723		chr16	TogoVar
PAICS_chr4_56431260_56469578	56434008	ACAAACTA others(6): Show ACAAACTAATGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0170 a0001c0001t0005g0170	1	380	0.0026	-13	c.-23 others(24): Show c.-2304_-2292delCAAACTAATGTTG	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding		2251		chr4	TogoVar
PAK1_chr11_77317017_77479094	77429082	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 HG03209.hp2 others(1): Show HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0006	a0001c0001t0001g0230 a0001c0001t0006g0002 a0001c0001t0007g0231 others(1): Show a0001c0001t0001g0230 a0001c0001t0006g0002 a0001c0001t0007g0231 a0001c0003t0006g0001	4	302	0.0133	-13	c.-21 others(32): Show c.-21-36554_-21-36542delGTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196833461	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0047 a0001c0002t0005g0047	1	178	0.0056	-13	c.50 others(24): Show c.5057_*5069delAAAAAAAAAAAAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		815		chr3	TogoVar
PAK4_chr19_39120786_39184404	39144148	ATAGATAG others(6): Show ATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp1 HG03017.hp1 others(1): Show HG00639.hp2 HG01358.hp1 HG03017.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0102 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0111	4	368	0.0109	-13	c.-96 others(32): Show c.-96+18235_-96+18247delAGATAGATTAGAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9602327	TAAATAAA others(6): Show TAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0014 a0002c0007t0001g0014	1	208	0.0048	-13	c.205 others(32): Show c.205-21410_205-21398delTATTTATTTATTT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	3/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9618915	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03471.hp1 HG01257.hp1 HG01258.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0002c0007 a0001c0005 a0002c0001 a0002c0007	a0001c0005t0010 a0002c0001t0001 a0002c0007t0001 a0001c0005t0010 a0002c0001t0001 a0002c0007t0001	a0001c0005t0010g0159 a0002c0001t0001g0027 a0002c0007t0001g0028 a0001c0005t0010g0159 a0002c0001t0001g0027 a0002c0007t0001g0028	3	208	0.0144	-13	c.204 others(32): Show c.204+25197_204+25209delAAAAAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	3/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9717615	GTTTTGTT others(6): Show GTTTTGTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0001 a0002c0001t0001g0085 a0001c0002t0002g0001 a0002c0001t0001g0085	2	208	0.0096	-13	c.-16 others(32): Show c.-161-6193_-161-6181delAAACAAAACAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9766509	TATATTCA others(6): Show TATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	208	0.0048	-13	c.-16 others(34): Show c.-161-55087_-161-55075delTCTGCTTGAATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALD1_chr10_70473767_70573450	70523266	CAGGCCGA others(6): Show CAGGCCGAGCCCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0179 a0001c0004t0014g0179	1	308	0.0033	-13	c.-29 others(30): Show c.-29-2656_-29-2644delAGGCCGAGCCCAG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19			chr10	TogoVar
PALD1_chr10_70473767_70573450	70558660	CGGGGAGT others(6): Show CGGGGAGTAAGAAG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0162 a0006c0008t0006g0162	1	308	0.0033	-13	c.226 others(32): Show c.2263-5703_2263-5691delGGGGAGTAAGAAG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19			chr10	TogoVar
PALLD_chr4_168492052_168933441	168561906	CACTAATC others(6): Show CACTAATCAACAGA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01099.hp2 HG01175.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0004 a0002c0007t0001 a0002c0007t0004	a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0007t0001g0025 a0002c0007t0004g0027	2	156	0.0128	-13	c.908 others(32): Show c.908+49495_908+49507delACTAATCAACAGA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168689432	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0016 a0002c0015t0016	a0002c0015t0016g0035 a0002c0015t0016g0035	1	156	0.0064	-13	c.133 others(32): Show c.1336-1150_1336-1138delTTTTTTTTTTTTT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168746380	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp2 NA21309.hp1 HG03540.hp1 HG03579.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0006 a0001c0002 a0002c0003 a0002c0006	a0001c0002t0007 a0002c0003t0012 a0002c0006t0007 a0001c0002t0007 a0002c0003t0012 a0002c0006t0007	a0001c0002t0007g0079 a0002c0003t0012g0034 a0002c0006t0007g0045 a0001c0002t0007g0079 a0002c0003t0012g0034 a0002c0006t0007g0045	3	156	0.0192	-13	c.196 others(34): Show c.1964+34475_1964+34487delAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168761645	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00735.hp2 others(44): Show HG00280.hp2 HG00642.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18964.hp2 NA19005.hp1 NA19010.hp2 NA19074.hp2 NA19077.hp2 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0002c0003 a0002c0006 a0002c0007 a0002c0010 a0002c0015 a0002c0017 a0002c0018 a0003c0005 a0003c0008 a0004c0011 a0004c0014 a0004c0024 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0004t0002 a0001c0004t0017 a0001c0022t0003 a0002c0003t0001 a0002c0003t0003 a0002c0006t0007 a0002c0007t0001 a0002c0007t0004 a0002c0007t0005 a0002c0010t0006 a0002c0015t0003 a0002c0015t0016 a0002c0017t0003 a0002c0018t0007 a0003c0005t0001 a0003c0008t0004 a0004c0011t0001 a0004c0011t0013 a0004c0014t0001 a0004c0024t0003 a0005c0026t0004	a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0073 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0002g0089 a0001c0001t0002g0111 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0003g0009 a0001c0001t0003g0156 a0001c0001t0005g0091 a0001c0001t0005g0097 a0001c0001t0005g0134 a0001c0001t0008g0006 a0001c0001t0008g0053 a0001c0001t0008g0061 a0001c0001t0008g0064 a0001c0001t0009g0150 a0001c0001t0022g0114 a0001c0002t0003g0075 a0001c0002t0006g0090 a0001c0002t0006g0115 a0001c0002t0010g0092 a0001c0004t0002g0131 a0001c0004t0017g0048 a0001c0022t0003g0054 a0002c0003t0001g0028 a0002c0003t0003g0033 a0002c0003t0003g0088 a0002c0006t0007g0032 a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0007t0005g0138 a0002c0010t0006g0100 a0002c0015t0003g0058 a0002c0015t0016g0035 a0002c0017t0003g0084 a0002c0018t0007g0012 a0003c0005t0001g0076 a0003c0008t0004g0047 a0004c0011t0001g0083 a0004c0011t0013g0004 a0004c0014t0001g0029 a0004c0024t0003g0014 a0005c0026t0004g0015	47	156	0.3013	-13	c.196 others(34): Show c.1964+49741_1964+49753delTTTTTTTTTTTTT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168786998	TCTAGCTA others(6): Show TCTAGCTAGCTAGC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0093 a0001c0002t0010g0093	1	156	0.0064	-13	c.196 others(34): Show c.1964+75076_1964+75088delCTAGCTAGCTAGC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168833291	CCCACCCT others(6): Show CCCACCCTGCGGAG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG02602.hp1 others(9): Show HG01071.hp2 HG01081.hp1 HG02602.hp1 HG02698.hp2 HG02965.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG04115.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0004t0017 a0002c0006t0007	a0001c0001t0001g0077 a0001c0001t0004g0002 a0001c0001t0004g0087 others(9): Show a0001c0001t0001g0077 a0001c0001t0004g0002 a0001c0001t0004g0087 a0001c0001t0005g0097 a0001c0001t0008g0061 a0001c0001t0009g0124 a0001c0001t0009g0150 a0001c0002t0006g0143 a0001c0002t0007g0079 a0001c0002t0010g0144 a0001c0004t0017g0048 a0002c0006t0007g0045	12	156	0.0769	-13	c.196 others(34): Show c.1965-57628_1965-57616delACCCTGCGGAGCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014800	AAAAATGT others(6): Show AAAAATGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp1 NA18999.hp1 HG03453.hp2 NA18906.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0158 a0001c0001t0001g0161 a0002c0002t0004g0037 a0001c0001t0001g0158 a0001c0001t0001g0161 a0002c0002t0004g0037	3	222	0.0135	-13	c.497 others(30): Show c.497-1152_497-1140delAAATGTATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014802	AAATGTAT others(6): Show AAATGTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA20129.hp2 HG02300.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0005 a0001c0001t0002 a0004c0005t0005	a0001c0001t0002g0020 a0004c0005t0005g0148 a0001c0001t0002g0020 a0004c0005t0005g0148	2	222	0.0090	-13	c.497 others(30): Show c.497-1150_497-1138delATGTATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110044344	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19043.hp2 HG03834.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0027 a0002c0002t0003 a0001c0006t0027 a0002c0002t0003	a0001c0006t0027g0174 a0002c0002t0003g0097 a0001c0006t0027g0174 a0002c0002t0003g0097	2	222	0.0090	-13	c.582 others(32): Show c.582+28318_582+28330delTTTTTTTTTTTTT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110081175	GAAAGAAT others(6): Show GAAAGAATATGCAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	222	0.0045	-13	c.583 others(32): Show c.583-54950_583-54938delAAGAATATGCACA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99650285	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	380	0.0026	-13	c.45+ others(28): Show c.45+3945_45+3957delAAAAAAAAAAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results