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
PPP1R9A_chr7_94902594_95301400	95151941	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0264 a0001c0004t0001g0264	1	95	0.0105	19	c.165 others(38): Show c.1650-9915_1650-9897dupTTTTTTTTTTTTTTTTTTT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2CB_chr8_30780616_30817818	30784662	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	123	0.0163	19	c.15 others(30): Show c.1572_*1573insATATATATTTTTTTTTTTT	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding		953		chr8	TogoVar
PPP2CB_chr8_30780616_30817818	30784662	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	122	0.0082	19	c.15 others(30): Show c.1572_*1573insATATATATATTTTTTTTTT	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding		953		chr8	TogoVar
PPP2R2B_chr5_146575742_146883757	146590941	T T	TGGTTTCC others(12): Show TGGTTTCCACATTTTTATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02280.hp2 others(7): Show HG01243.hp1 HG01884.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 others(4): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 a0001c0001t0056 a0001c0001t0091 a0001c0001t0102 a0001c0001t0103	a0001c0001t0014g0163 a0001c0001t0014g0167 a0001c0001t0014g0169 others(7): Show a0001c0001t0014g0163 a0001c0001t0014g0167 a0001c0001t0014g0169 a0001c0001t0018g0068 a0001c0001t0018g0082 a0001c0001t0024g0001 a0001c0001t0056g0051 a0001c0001t0091g0148 a0001c0001t0102g0159 a0001c0001t0103g0156	10	168	0.0595	19	c.105 others(36): Show c.1053-734_1053-716dupTTATAAAAATGTGGAAACC	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	9/9			chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146698317	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0161 a0001c0001t0023g0161	1	111	0.0090	19	c.169 others(34): Show c.169-174_169-173insATATTTTTTTTTTTTTTTT	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	3/9			chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146698317	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0146 a0001c0001t0096g0146	1	111	0.0090	19	c.169 others(34): Show c.169-174_169-173insATATATTTTTTTTTTTTTT	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	3/9			chr5	TogoVar
PPP2R3A_chr3_135960728_136152894	136137534	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp2 HG02723.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0009 a0002c0007t0002 a0001c0001t0009 a0002c0007t0002	a0001c0001t0009g0215 a0002c0007t0002g0130 a0001c0001t0009g0215 a0002c0007t0002g0130	2	48	0.0417	19	c.333 others(38): Show c.3330-7502_3330-7484dupTTTTTTTTTTTTTTTTTTT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	329091	C C	CTCCCTCT others(12): Show CTCCCTCTCCCCGTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0017 a0002c0001t0002g0017	1	22	0.0455	19	c.52 others(30): Show c.5275_*5276insAGGGGGACGGGGAGAGGGA	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		4841		chrX	TogoVar
PPP2R3B_chrX_328933_391907	353856	G G	GGGGGCTC others(12): Show GGGGGCTCACCCAGGGAGCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG02015.hp1 others(1): Show HG01255.hp2 HG01934.hp1 HG02015.hp1 HG02630.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0001 a0001c0003t0009 a0004c0010t0008 a0001c0003t0001 a0001c0003t0009 a0004c0010t0008	a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0009g0005 others(1): Show a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0009g0005 a0004c0010t0008g0024	4	24	0.1667	19	c.511 others(36): Show c.511-6164_511-6163insTGCTCCCTGGGTGAGCCCC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PPP2R5A_chr1_212280410_212366853	212316587	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 NA18989.hp1 HG01109.hp1 HG02109.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0119 a0001c0002t0002g0124 a0001c0002t0006g0038 a0001c0002t0002g0119 a0001c0002t0002g0124 a0001c0002t0006g0038	3	16	0.1875	19	c.182 others(38): Show c.182-12540_182-12522dupTTTTTTTTTTTTTTTTTTT	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5C_chr14_101756709_101932977	101782345	C C	CCCCCCTC others(12): Show CCCCCCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	135	0.0074	19	c.94- others(34): Show c.94-3673_94-3672insCCCCCTCCCCTCCCTCTCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PPP2R5D_chr6_42979570_43017342	42995126	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	151	0.0066	19	c.105 others(36): Show c.105+5441_105+5459dupTTTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	43000236	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02145.hp1 HG02717.hp1 others(5): Show HG00423.hp1 HG02145.hp1 HG02717.hp1 HG03130.hp2 NA18522.hp2 NA19003.hp2 NA19083.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0215 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0005g0146	8	155	0.0516	19	c.106 others(36): Show c.106-6226_106-6208dupTTTTTTTTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5E_chr14_63366364_63548377	63374634	G G	GATTATAT others(12): Show GATTATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02809.hp2 NA19043.hp1 HG02055.hp1 HG02809.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0055 a0001c0001t0025 a0001c0001t0055	a0001c0001t0025g0244 a0001c0001t0025g0247 a0001c0001t0055g0085 a0001c0001t0025g0244 a0001c0001t0025g0247 a0001c0001t0055g0085	3	97	0.0309	19	c.13 others(30): Show c.1374_*1375insATATATATATATATATAAT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	14/14	1374		chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106373	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	184	0.0054	19	c.384 others(36): Show c.384+2580_384+2581insCTTTCTTTCTTTCTTTCTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101278122	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02451.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0059 a0001c0001t0007 a0001c0001t0059	a0001c0001t0007g0103 a0001c0001t0059g0182 a0001c0001t0007g0103 a0001c0001t0059g0182	2	52	0.0385	19	c.58+ others(36): Show c.58+68616_58+68617insTTTTTTTTTTTTTTTTTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101333270	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0182 a0001c0001t0059g0182	1	22	0.0455	19	c.58+ others(36): Show c.58+13450_58+13468dupAAAAAAAAAAAAAAAAAAA	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22491328	C C	CCCTCCTT others(12): Show CCCTCCTTCCAGAATATGAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	324	0.0031	19	c.373 others(36): Show c.373-6672_373-6654dupCCTCCTTCCAGAATATGAT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22496485	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp2 HG03834.hp1 others(2): Show HG03688.hp1 HG03688.hp2 HG03834.hp1 NA19056.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0291 a0001c0001t0002g0311 a0001c0001t0003g0018 others(2): Show a0001c0001t0002g0291 a0001c0001t0002g0311 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0005g0073	5	77	0.0649	19	c.373 others(36): Show c.373-1504_373-1486dupTTTTTTTTTTTTTTTTTTT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22518150	A A	ACTCCTGG others(12): Show ACTCCTGGGCTCAAGCAGTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	324	0.0031	19	c.771 others(36): Show c.771-4334_771-4316dupGGCTCAAGCAGTCCTCCTG	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP4R3A_chr14_91452508_91515310	91466964	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	366	0.0027	19	c.166 others(38): Show c.1661-1546_1661-1545insTGTGTGTGTGTGTGTGTGT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 NA19085.hp2 HG02055.hp2 HG02486.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0262 a0001c0001t0001g0300 a0001c0010t0001g0356 a0001c0001t0001g0262 a0001c0001t0001g0300 a0001c0010t0001g0356	3	23	0.1304	19	c.166 others(38): Show c.1660+2151_1660+2169dupTTTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3B_chr2_55542292_55622622	55615857	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	104	0.0096	19	c.143 others(34): Show c.143-370_143-352dupTTTTTTTTTTTTTTTTTTT	PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	1/16			chr2	TogoVar
PPP4R4_chr14_94169322_94284734	94235388	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0133	1	137	0.0073	19	c.731 others(34): Show c.731+730_731+748dupTTTTTTTTTTTTTTTTTTT	PPP4R4	ENSG00000119698.12	transcript	ENST00000304338.8	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP5C_chr19_46342087_46395975	46395633	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	10	0.1000	19	c.52 others(30): Show c.5287_*5288insAAAAAAAAAAAAAAAAAAA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		4659		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50375832	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01934.hp1 HG02572.hp1 others(6): Show HG00639.hp1 HG01934.hp1 HG02572.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03927.hp2 NA18952.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0013 a0014	a0001c0001 a0001c0002 a0005c0010 others(3): Show a0001c0001 a0001c0002 a0005c0010 a0006c0011 a0013c0026 a0014c0032	a0001c0001t0001 a0001c0002t0003 a0001c0002t0010 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0010 a0005c0010t0001 a0006c0011t0008 a0013c0026t0003 a0014c0032t0003	a0001c0001t0001g0234 a0001c0001t0001g0271 a0001c0002t0003g0281 others(6): Show a0001c0001t0001g0234 a0001c0001t0001g0271 a0001c0002t0003g0281 a0001c0002t0003g0294 a0001c0002t0010g0022 a0005c0010t0001g0258 a0006c0011t0008g0311 a0013c0026t0003g0278 a0014c0032t0003g0283	9	116	0.0776	19	c.-17 others(36): Show c.-17+3690_-17+3708dupTTTTTTTTTTTTTTTTTTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50403618	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0091 a0001c0003t0004g0091	1	338	0.0030	19	c.228 others(36): Show c.228-3066_228-3065insCCCCCCCCCCCCCCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50405307	A A	AGGCCTGG others(12): Show AGGCCTGGAGAGAGGTGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(172): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0014 a0001c0021 a0002c0004 a0004c0009 a0005c0010 a0006c0011 a0007c0012 a0009c0016 a0009c0030 a0011c0020 a0012c0022 a0016c0025 a0017c0024 a0018c0028 a0019c0019 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0014 a0001c0003t0028 a0001c0003t0029 a0001c0003t0030 a0001c0003t0031 a0001c0005t0002 a0001c0008t0003 a0001c0014t0001 a0001c0021t0001 a0002c0004t0009 a0004c0009t0025 a0005c0010t0001 a0006c0011t0008 a0007c0012t0016 a0009c0016t0008 a0009c0030t0022 a0011c0020t0002 a0012c0022t0002 a0016c0025t0006 a0017c0024t0007 a0018c0028t0002 a0019c0019t0003 a0020c0023t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(172): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0290 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0002g0078 a0001c0001t0002g0133 a0001c0001t0006g0001 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0024 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0007g0025 a0001c0001t0007g0076 a0001c0001t0007g0080 a0001c0001t0007g0085 a0001c0001t0007g0088 a0001c0001t0007g0096 a0001c0001t0007g0101 a0001c0001t0007g0105 a0001c0001t0007g0108 a0001c0001t0007g0146 a0001c0001t0007g0200 a0001c0001t0007g0207 a0001c0001t0009g0242 a0001c0001t0009g0253 a0001c0001t0009g0264 a0001c0001t0010g0009 a0001c0001t0010g0010 a0001c0001t0020g0237 a0001c0001t0023g0317 a0001c0001t0024g0236 a0001c0001t0033g0023 a0001c0002t0003g0293 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0002g0037 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0077 a0001c0003t0002g0095 a0001c0003t0002g0104 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0119 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0201 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0003g0175 a0001c0003t0004g0091 a0001c0003t0006g0140 a0001c0003t0006g0206 a0001c0003t0006g0218 a0001c0003t0008g0247 a0001c0003t0014g0004 a0001c0003t0014g0006 a0001c0003t0014g0007 a0001c0003t0028g0075 a0001c0003t0029g0142 a0001c0003t0030g0211 a0001c0003t0031g0113 a0001c0005t0002g0048 a0001c0005t0002g0057 a0001c0005t0002g0086 a0001c0005t0002g0102 a0001c0005t0002g0103 a0001c0005t0002g0107 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0118 a0001c0005t0002g0194 a0001c0005t0002g0203 a0001c0005t0002g0219 a0001c0005t0002g0220 a0001c0005t0002g0225 a0001c0008t0003g0284 a0001c0008t0003g0286 a0001c0008t0003g0287 a0001c0008t0003g0292 a0001c0008t0003g0295 a0001c0008t0003g0297 a0001c0008t0003g0299 a0001c0008t0003g0302 a0001c0008t0003g0338 a0001c0014t0001g0230 a0001c0014t0001g0320 a0001c0021t0001g0272 a0002c0004t0009g0305 a0002c0004t0009g0306 a0004c0009t0025g0008 a0005c0010t0001g0238 a0005c0010t0001g0250 a0005c0010t0001g0258 a0005c0010t0001g0268 a0006c0011t0008g0310 a0006c0011t0008g0311 a0006c0011t0008g0312 a0006c0011t0008g0313 a0007c0012t0016g0005 a0007c0012t0016g0044 a0007c0012t0016g0045 a0009c0016t0008g0223 a0009c0016t0008g0224 a0009c0030t0022g0038 a0011c0020t0002g0067 a0012c0022t0002g0208 a0016c0025t0006g0030 a0017c0024t0007g0031 a0018c0028t0002g0090 a0019c0019t0003g0300 a0020c0023t0001g0340	175	338	0.5178	19	c.228 others(36): Show c.228-1364_228-1363insGGGCCTGGAGAGAGGTGAG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50405848	G G	GGAGGTGA others(12): Show GGAGGTGAGAGGCCTGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(173): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0012 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0014 a0001c0021 a0002c0004 a0004c0009 a0005c0010 a0006c0011 a0007c0012 a0011c0020 a0012c0022 a0016c0025 a0017c0024 a0018c0028 a0019c0019 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0014 a0001c0003t0028 a0001c0003t0029 a0001c0003t0030 a0001c0003t0031 a0001c0005t0002 a0001c0008t0003 a0001c0014t0001 a0001c0021t0001 a0002c0004t0009 a0004c0009t0025 a0005c0010t0001 a0006c0011t0008 a0007c0012t0016 a0011c0020t0002 a0012c0022t0002 a0016c0025t0006 a0017c0024t0007 a0018c0028t0002 a0019c0019t0003 a0020c0023t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(173): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0002g0078 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0006g0001 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0024 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0007g0080 a0001c0001t0007g0085 a0001c0001t0007g0088 a0001c0001t0007g0096 a0001c0001t0007g0101 a0001c0001t0007g0105 a0001c0001t0007g0108 a0001c0001t0007g0146 a0001c0001t0007g0200 a0001c0001t0007g0207 a0001c0001t0009g0242 a0001c0001t0009g0253 a0001c0001t0009g0264 a0001c0001t0010g0009 a0001c0001t0010g0010 a0001c0001t0020g0237 a0001c0001t0023g0317 a0001c0001t0024g0236 a0001c0001t0033g0023 a0001c0002t0003g0293 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0002g0037 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0077 a0001c0003t0002g0095 a0001c0003t0002g0104 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0119 a0001c0003t0002g0143 a0001c0003t0002g0147 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0201 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0003g0175 a0001c0003t0004g0091 a0001c0003t0006g0140 a0001c0003t0006g0145 a0001c0003t0006g0148 a0001c0003t0006g0206 a0001c0003t0006g0218 a0001c0003t0008g0247 a0001c0003t0008g0289 a0001c0003t0008g0296 a0001c0003t0008g0303 a0001c0003t0014g0004 a0001c0003t0014g0007 a0001c0003t0028g0075 a0001c0003t0029g0142 a0001c0003t0030g0211 a0001c0003t0031g0113 a0001c0005t0002g0048 a0001c0005t0002g0057 a0001c0005t0002g0086 a0001c0005t0002g0102 a0001c0005t0002g0103 a0001c0005t0002g0107 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0118 a0001c0005t0002g0194 a0001c0005t0002g0203 a0001c0005t0002g0219 a0001c0005t0002g0220 a0001c0005t0002g0225 a0001c0008t0003g0284 a0001c0008t0003g0286 a0001c0008t0003g0287 a0001c0008t0003g0292 a0001c0008t0003g0295 a0001c0008t0003g0297 a0001c0008t0003g0299 a0001c0008t0003g0302 a0001c0008t0003g0338 a0001c0014t0001g0230 a0001c0014t0001g0320 a0001c0021t0001g0272 a0002c0004t0009g0305 a0002c0004t0009g0306 a0004c0009t0025g0008 a0005c0010t0001g0238 a0005c0010t0001g0250 a0005c0010t0001g0258 a0005c0010t0001g0268 a0006c0011t0008g0310 a0006c0011t0008g0311 a0006c0011t0008g0312 a0006c0011t0008g0313 a0007c0012t0016g0005 a0007c0012t0016g0044 a0007c0012t0016g0045 a0011c0020t0002g0067 a0012c0022t0002g0208 a0016c0025t0006g0030 a0017c0024t0007g0031 a0018c0028t0002g0090 a0019c0019t0003g0300 a0020c0023t0001g0340	176	338	0.5207	19	c.228 others(34): Show c.228-805_228-787dupAGAGAGGTGAGAGGCCTGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50405999	C C	CAGAGAGG others(12): Show CAGAGAGGTGAGAGGCCTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0314 a0001c0001t0026g0314	1	338	0.0030	19	c.228 others(34): Show c.228-676_228-658dupGCCTGGAGAGAGGTGAGAG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424364	C C	CGCGTGTG others(12): Show CGCGTGTGGAAGGTCTGTCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0008 a0009c0016t0008	a0009c0016t0008g0223 a0009c0016t0008g0224 a0009c0016t0008g0223 a0009c0016t0008g0224	2	161	0.0124	19	c.112 others(36): Show c.1125+764_1125+765insTGTCAGCGTGTGGAAGGTC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50424474	C C	CGTCCGCG others(12): Show CGTCCGCGTGTGGAAGGTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0193 a0001c0003t0002g0193	1	337	0.0030	19	c.112 others(36): Show c.1125+874_1125+875insGGTCTGTCCGCGTGTGGAA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0174 a0001c0001t0020g0174	1	94	0.0106	19	c.-15 others(40): Show c.-158+16915_-158+16916insAAAAAAAAAAATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp1 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0178 a0001c0001t0020g0175 a0001c0001t0014g0178 a0001c0001t0020g0175	2	95	0.0211	19	c.-15 others(40): Show c.-158+16915_-158+16916insAAAAAAAAATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	94	0.0106	19	c.-15 others(40): Show c.-158+16915_-158+16916insAAATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68478647	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02723.hp2 HG00099.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0015 a0001c0001t0001 a0002c0002t0015	a0001c0001t0001g0051 a0002c0002t0015g0145 a0001c0001t0001g0051 a0002c0002t0015g0145	2	4	0.5000	19	c.-15 others(40): Show c.-158+17827_-158+17845dupTTTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68506414	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18984.hp2 NA19060.hp2 HG03486.hp1 NA18984.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0028g0205 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0028g0205	3	13	0.2308	19	c.-15 others(40): Show c.-157-13071_-157-13053dupAAAAAAAAAAAAAAAAAAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573153	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	229	0.0044	19	c.134 others(36): Show c.1344-955_1344-954insTATATATATATATATATAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573154	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	232	0.0043	19	c.134 others(36): Show c.1344-955_1344-954insTATATATATATATATATAT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23			chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68586028	T T	TGAGGTAG others(12): Show TGAGGTAGGAGGATTACTAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18941.hp1 NA18947.hp1 others(2): Show HG02080.hp2 NA18941.hp1 NA18947.hp1 NA18953.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0001g0086 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0003g0098	5	250	0.0200	19	c.163 others(38): Show c.1633-1888_1633-1870dupGATTACTAGGAGGTAGGAG	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPT1_chr1_40067712_40102252	40089286	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02027.hp1 others(7): Show HG00423.hp2 HG01496.hp1 HG02027.hp1 HG02056.hp1 HG04199.hp2 NA18944.hp1 NA18975.hp1 NA19002.hp2 NA19064.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0124 a0001c0001t0005g0043 a0001c0001t0005g0044 others(4): Show a0001c0001t0002g0124 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0123 a0001c0001t0005g0125 a0001c0001t0005g0126	10	91	0.1099	19	c.536 others(34): Show c.536+123_536+124insTTTTTTTTTTTTTTTTTTT	PPT1	ENSG00000131238.18	transcript	ENST00000642050.2	protein_coding	5/8			chr1	TogoVar
PPWD1_chr5_65558296_65592549	65573476	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01261.hp2 others(12): Show HG01081.hp2 HG01106.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG02738.hp2 HG02976.hp2 HG03195.hp1 HG06807.hp2 NA18962.hp1 NA18988.hp1 NA19002.hp2 NA19067.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0030 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0211 a0001c0001t0001g0220	15	280	0.0536	19	c.969 others(36): Show c.969+1190_969+1191insATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10			chr5	TogoVar
PPWD1_chr5_65558296_65592549	65573516	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18950.hp1 HG03209.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0067 a0001c0002t0001g0193 a0001c0001t0001g0067 a0001c0002t0001g0193	2	163	0.0123	19	c.969 others(36): Show c.969+1249_969+1267dupTTTTTTTTTTTTTTTTTTT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19087.hp2 NA18979.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0007	2	143	0.0140	19	c.42 others(30): Show c.4249_*4250insATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAMEF14_chr1_13336892_13352134	13349225	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	254	0.0039	19	c.-21 others(30): Show c.-2195_-2194insCTTTCTTTCTTTCTTTCTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2092		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	125	0.0080	19	c.-22 others(30): Show c.-2221_-2220insCTTTCTTTCTTTCTTTCTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2118		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AGAAAAAG others(12): Show AGAAAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	125	0.0080	19	c.-22 others(30): Show c.-2221_-2220insCTTTCTTTCTTTCTTTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2118		chr1	TogoVar
PRAMEF15_chr1_13310581_13327598	13323736	C C	CCTTCTTG others(12): Show CCTTCTTGAATTAAACTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	19	c.14 others(30): Show c.1472_*1473insCTTCTTGAATTAAACTGGT	PRAMEF15	ENSG00000204501.7	transcript	ENST00000376152.2	protein_coding		1139		chr1	TogoVar
PRAMEF15_chr1_13310581_13327598	13327498	T T	TCTCTCCC others(12): Show TCTCTCCCTCTCCCGTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01106.hp1 others(11): Show HG00733.hp2 HG01070.hp2 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01975.hp2 HG02027.hp1 HG02074.hp1 HG02717.hp2 NA18943.hp1 NA18959.hp1 NA19011.hp2 NA19070.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0012 a0008c0025 a0001c0001 a0001c0012 a0008c0025	a0001c0001t0001 a0001c0012t0001 a0008c0025t0001 a0001c0001t0001 a0001c0012t0001 a0008c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0012t0001g0042 a0008c0025t0001g0001	14	187	0.0749	19	c.52 others(30): Show c.5234_*5235insCTCTCCCTCTCCCGTCTCC	PRAMEF15	ENSG00000204501.7	transcript	ENST00000376152.2	protein_coding		4901		chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417953	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18994.hp1 HG04204.hp2 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0078 a0002c0003t0001g0258 a0002c0003t0001g0078 a0002c0003t0001g0258	2	435	0.0046	19	c.288 others(34): Show c.288-169_288-168insGTGTGTGTGTGTGTGTGTG	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3			chr1	TogoVar

Search by Variant

Search

Search Results