Joint Open Genome and Omics Platform (JoGo)

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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
OSTC_chr4_108645599_108672820	108671996	T T	TTGTGTGT others(20): Show TTGTGTGTAGGGTGGGGTTGGGGTTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	370	0.0027	27	c.47 others(38): Show c.4731_*4732insTGTGTGTAGGGTGGGGTTGGGGTTGGG	OSTC	ENSG00000198856.13	transcript	ENST00000361564.9	protein_coding		4177		chr4	TogoVar
OSTF1_chr9_75083514_75152265	75139055	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	360	0.0028	27	c.487 others(44): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOA_chr16_21658968_21765729	21757615	C C	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp2 HG03453.hp2 HG01256.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0012 a0001c0001 a0001c0006 a0001c0012	a0001c0001t0002 a0001c0006t0002 a0001c0012t0002 a0001c0001t0002 a0001c0006t0002 a0001c0012t0002	a0001c0001t0002g0163 a0001c0006t0002g0198 a0001c0012t0002g0291 a0001c0001t0002g0163 a0001c0006t0002g0198 a0001c0012t0002g0291	3	309	0.0097	27	c.334 others(44): Show c.3349+357_3349+358insATTATTATTATTATTATTATTATTATT	OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTUD1_chr10_23434075_23447377	23434900	G G	GATGATGA others(20): Show GATGATGATGATGATGATGATGATGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG02895.hp1 HG03098.hp2 HG01071.hp2 HG02895.hp1 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0000 a0001c0007t0002g0000	3	359	0.0084	27	c.-45 others(38): Show c.-4558_-4557insATGATGATGATGATGATGATGATGATT	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4174		chr10	TogoVar
OTUD1_chr10_23434075_23447377	23434900	G G	GATGATGA others(20): Show GATGATGATGATGATGATGATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	357	0.0028	27	c.-45 others(38): Show c.-4558_-4557insATGATGATGATGATGATGATTATTATT	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4174		chr10	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0190 a0001c0002t0020g0190	1	8	0.1250	27	c.152 others(46): Show c.152-40421_152-40420insAAAAAAAAATATATATATATATATAT A	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0192 a0002c0003t0003g0192	1	8	0.1250	27	c.152 others(46): Show c.152-40421_152-40420insAAAAAAAAAAAAATATATATATATAT A	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0170 a0002c0008t0002g0170	1	8	0.1250	27	c.152 others(46): Show c.152-40421_152-40420insAAAAAAAAAAAAAAATATATATATAT A	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0117 a0001c0002t0036g0117	1	8	0.1250	27	c.152 others(46): Show c.152-40421_152-40420insAAAAAAAAAAAAAAAAAAATATATAT A	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753702	T T	TATTATAT others(20): Show TATTATATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	206	0.0049	27	c.-99 others(46): Show c.-99-96626_-99-96625insTATATATATAATATATATATATATAA T	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXCT1_chr5_41725065_41875425	41859884	T T	TATGTAAT others(20): Show TATGTAATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp2 HG00597.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	197	0.0102	27	c.278 others(44): Show c.278+1403_278+1429dupGTGTATATATATATATATATATTACAT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16			chr5	TogoVar
OXNAD1_chr3_16260212_16311087	16308782	T T	TCTTAAAA others(20): Show TCTTAAAACCTGCAGGAGCTCATCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	382	0.0026	27	c.52 others(38): Show c.5220_*5221insCTTAAAACCTGCAGGAGCTCATCAGCC	OXNAD1	ENSG00000154814.14	transcript	ENST00000285083.10	protein_coding		2696		chr3	TogoVar
OXR1_chr8_106265190_106757694	106694643	A A	ATATATAT others(20): Show ATATATATTTGATATATAAATATATGTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	170	0.0059	27	c.675 others(44): Show c.675+1776_675+1802dupGATATATAAATATATGTTTATATATTT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106694653	G G	GATATATA others(20): Show GATATATAAATATATGTTTATATATTTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	143	0.0070	27	c.675 others(44): Show c.675+1818_675+1844dupGTTTATATATTTAATATATAAATATAT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXSR1_chr3_38160537_38260484	38161609	T T	TGTCATAT others(20): Show TGTCATATATTATGTATATTTCATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0039 a0002c0002t0018g0039	1	246	0.0041	27	c.-42 others(38): Show c.-4268_-4267insGTCATATATTATGTATATTTCATATAC	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3927		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618228	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	374	0.0053	27	c.-58 others(36): Show c.-589_-588insAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		547		chr12	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01069.hp2 others(15): Show HG00323.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp2 HG02074.hp2 HG02257.hp1 HG02615.hp1 HG02922.hp2 HG03516.hp1 HG03669.hp1 HG04184.hp2 HG04228.hp1 NA18952.hp1 NA18952.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0023	18	187	0.0963	27	c.-58 others(36): Show c.-585_-584insAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130843	A A	AGAAAGAA others(20): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	65	0.0154	27	c.-21 others(38): Show c.-2128_-2127insGAAAGAAAGAAAGAAAGAAAGAAAGAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2032		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0028 a0008c0039t0028	a0008c0039t0028g0012 a0008c0039t0028g0012	1	41	0.0244	27	c.125 others(44): Show c.125+2929_125+2930insAAAAAAAAAAATATATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0012 a0004c0003t0012	a0004c0003t0012g0201 a0004c0003t0012g0201	1	41	0.0244	27	c.125 others(44): Show c.125+2928_125+2929insTATATATATATATATATATATATATAT	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12			chr12	TogoVar
P2RY12_chr3_151331843_151389753	151387740	C C	CATACAAG others(20): Show CATACAAGCTGGCTATGAATAAGAAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	394	0.0025	27	c.-32 others(38): Show c.-3229_-3228insACTTTCTTATTCATAGCCAGCTTGTAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding		2988		chr3	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0070 a0001c0002t0003g0070	1	41	0.0244	27	c.189 others(44): Show c.1893+624_1893+625insATATATATATATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	325	0.0031	27	c.26 others(38): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPN1L_chr16_88858333_88871660	88870675	C C	CGCCCTGC others(20): Show CGCCCTGCCTCTTCCCCGTCGTGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG01884.hp2 others(8): Show HG01167.hp2 HG01175.hp1 HG01884.hp2 HG02055.hp1 HG02451.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0006g0036	11	440	0.0250	27	c.-40 others(38): Show c.-4070_-4069insAGGAGCACGACGGGGAAGAGGCAGGGC	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding		4016		chr16	TogoVar
PABPN1_chr14_23316457_23331163	23325225	T T	TAACTCTC others(20): Show TAACTCTCCTTGATCACGTTAACACCTA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0024 a0001c0001t0021g0024	1	426	0.0023	27	c.882 others(40): Show c.882-12_882-11insGATCACGTTAACACCTAAACTCTCCTT	PABPN1	ENSG00000100836.11	transcript	ENST00000216727.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PABPN1_chr14_23316457_23331163	23329268	C C	CCCAAAGT others(20): Show CCCAAAGTGCTGGGATTACAGGCGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0023	27	c.39 others(38): Show c.3982_*3983insCCAAAGTGCTGGGATTACAGGCGTGAG	PABPN1	ENSG00000100836.11	transcript	ENST00000216727.9	protein_coding		3106		chr14	TogoVar
PACRG_chr6_162722974_163320500	162947592	A A	ATACTCAT others(20): Show ATACTCATATATATATATAATCATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	120	0.0083	27	c.292 others(48): Show c.292-114558_292-114557insTACTCATATATATATATAATCATA TAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4			chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	145	0.0069	27	c.-78 others(46): Show c.-78+32151_-78+32152insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	86	0.0116	27	c.-78 others(44): Show c.-78+4622_-78+4623insAAAAATATATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18940.hp2 HG00408.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0011 a0001c0002t0003g0012	2	87	0.0230	27	c.-78 others(44): Show c.-78+4622_-78+4623insAAAAAAATATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI4_chr1_17303197_17369004	17352066	G G	GTGGGAGG others(20): Show GTGGGAGGAGAGGCGGCCAGGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	370	0.0027	27	c.115 others(46): Show c.1156-2462_1156-2461insGGAGAGGCGGCCAGGGAGGTGATGGG A	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18963.hp1 HG01496.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0053 a0001c0001t0005g0010 a0001c0001t0005g0053	2	178	0.0112	27	c.368 others(42): Show c.368-788_368-787insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(20): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG04204.hp2 HG03017.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0004 a0001c0001t0035g0099 a0001c0001t0035g0004 a0001c0001t0035g0099	2	131	0.0153	27	c.75 others(36): Show c.750_*751insGTTTTTTTTTTTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19091.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0297 a0001c0001t0001g0244 a0001c0001t0001g0297	2	18	0.1111	27	c.125 others(46): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77415976	G G	GTATTATT others(20): Show GTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	54	0.0185	27	c.-21 others(46): Show c.-21-23436_-21-23435insATAATAATAATAATAATAATAATAAT A	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	116	0.0086	27	c.-21 others(46): Show c.-21-36542_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429093	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	257	0.0039	27	c.-21 others(46): Show c.-21-36553_-21-36552insGTTTTTTTTTTTTTTTTTTTTTTTTT T	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(20): Show ATATATATATATATATATATAAAATTAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	100	0.0100	27	c.-22 others(46): Show c.-22+11538_-22+11539insTATATATATATATATATATAAAATTA C	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(20): Show ATATATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18971.hp1 NA18980.hp2 HG01943.hp2 NA18971.hp1 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0008 a0001c0003t0006 a0001c0003t0008	a0001c0003t0006g0066 a0001c0003t0008g0064 a0001c0003t0008g0065 a0001c0003t0006g0066 a0001c0003t0008g0064 a0001c0003t0008g0065	3	102	0.0294	27	c.-22 others(46): Show c.-22+11538_-22+11539insTATATATATATATATATATATAATTA C	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196810496	A A	AAAAACAG others(20): Show AAAAACAGTGGAGTTCATTAAAAGGAAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0076 a0001c0001t0016g0076	1	176	0.0057	27	c.710 others(40): Show c.710-91_710-65dupAACAGTGGAGTTCATTAAAAGGAATAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833460	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0159 a0001c0001t0021g0159	1	137	0.0073	27	c.50 others(38): Show c.5055_*5056insTATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		814		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833466	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 NA18970.hp1 NA18970.hp2 HG02273.hp1 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0002g0092 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0002g0092	3	83	0.0361	27	c.50 others(38): Show c.5061_*5062insTATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		820		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0153 a0001c0001t0048g0153	1	59	0.0169	27	c.50 others(38): Show c.5063_*5064insTATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0162 a0001c0001t0022g0162	1	129	0.0078	27	c.58 others(38): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK5_chr20_9532370_9844076	9802916	A A	ATATATAT others(20): Show ATATATATATATATATTATATATATTAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0128 a0002c0001t0023g0128	1	206	0.0049	27	c.-16 others(48): Show c.-162+35845_-162+35846insATAATATATATAATATATATATAT ATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40255298	T T	TGGGGATT others(20): Show TGGGGATTCACTGGGGCCAGTGGTATGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	424	0.0024	27	c.-6+ others(42): Show c.-6+2011_-6+2037dupGGGATTCACTGGGGCCAGTGGTATGGG	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGA others(20): Show AGGGAGGAAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 NA18964.hp1 HG01074.hp1 HG01175.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0008 a0001c0002t0003 a0002c0003t0002 a0001c0001t0008 a0001c0002t0003 a0002c0003t0002	a0001c0001t0008g0063 a0001c0002t0003g0018 a0002c0003t0002g0143 a0001c0001t0008g0063 a0001c0002t0003g0018 a0002c0003t0002g0143	3	58	0.0517	27	c.162 others(44): Show c.1621+486_1621+487insGGGAGGAAGGGGGAAAAGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(20): Show AGGGAGGGAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18522.hp1 HG03669.hp2 NA18522.hp1	a0002 a0008 a0002 a0008	a0002c0007 a0008c0023 a0002c0007 a0008c0023	a0002c0007t0014 a0008c0023t0001 a0002c0007t0014 a0008c0023t0001	a0002c0007t0014g0031 a0008c0023t0001g0053 a0002c0007t0014g0031 a0008c0023t0001g0053	2	57	0.0351	27	c.162 others(44): Show c.1621+486_1621+487insGGGAGGGAGGGGGAAAAGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110010441	A A	ATATACAT others(20): Show ATATACATACTATATATATAATATGTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18950.hp1 HG01081.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0002 a0001c0001t0006 a0002c0004t0002	a0001c0001t0006g0147 a0002c0004t0002g0060 a0001c0001t0006g0147 a0002c0004t0002g0060	2	220	0.0091	27	c.497 others(44): Show c.497-5496_497-5470dupATAATATGTATTATACATACTATATAT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	129	0.0078	27	c.583 others(42): Show c.583-962_583-961insAAAAAAAAATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar

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