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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG01358.hp1 others(15): Show HG01099.hp2 HG01123.hp2 HG01358.hp1 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01978.hp2 HG02155.hp1 HG03490.hp2 HG03834.hp1 HG03927.hp1 NA18747.hp1 NA18906.hp2 NA18963.hp1 NA18968.hp2 NA18971.hp1 NA19005.hp2 NA20752.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0011 a0013 a0014 a0016 a0018	a0001c0001 a0003c0004 a0005c0005 others(5): Show a0001c0001 a0003c0004 a0005c0005 a0011c0013 a0013c0014 a0014c0012 a0016c0016 a0018c0023	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0005c0005t0002 a0005c0005t0024 a0011c0013t0005 a0013c0014t0001 a0014c0012t0004 a0016c0016t0002 a0018c0023t0009	a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 others(15): Show a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0003g0137 a0003c0004t0001g0138 a0005c0005t0002g0143 a0005c0005t0002g0148 a0005c0005t0024g0139 a0011c0013t0005g0146 a0011c0013t0005g0147 a0013c0014t0001g0142 a0014c0012t0004g0152 a0016c0016t0002g0145 a0018c0023t0009g0136	18	366	0.0492	21	c.125 others(38): Show c.125+2929_125+2930insAAAAAAAAATATATATATATA		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19030.hp1 HG02293.hp1 NA19030.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0016 a0001c0001 a0016c0016	a0001c0001t0001 a0016c0016t0002 a0001c0001t0001 a0016c0016t0002	a0001c0001t0001g0169 a0016c0016t0002g0168 a0001c0001t0001g0169 a0016c0016t0002g0168	2	366	0.0055	21	c.125 others(38): Show c.125+2929_125+2930insAAAAAAATATATATATATATA		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp1 HG01358.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0141 a0001c0002t0009g0094 a0001c0001t0001g0141 a0001c0002t0009g0094	2	304	0.0066	21	c.189 others(38): Show c.1893+624_1893+625insATATATATATATATATATATA		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14						chr3	TogoVar
P4HA1_chr10_73002217_73101866	73046755	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	234	0.0043	21	c.107 others(38): Show c.1077+169_1077+170insCCCCCCCCCCCCCCCCCCCCC		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	8/14						chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093873	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	234	0.0043	21	c.-33 others(38): Show c.-33+2892_-33+2893insATATATATATATATATATATT		P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14						chr10	TogoVar
PABPC1L_chr20_44905060_44944316	44931061	T T	TTCCCTTC others(14): Show TTCCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03654.hp2 HG03710.hp2 HG00735.hp1 HG03654.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0257	3	396	0.0076	21	c.123 others(38): Show c.1239+340_1239+341insTCCCTCCCTCCCTCCCTCCCT		PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG04199.hp2 others(6): Show HG01099.hp2 HG01261.hp2 HG04199.hp2 NA18939.hp1 NA18951.hp2 NA18965.hp1 NA19058.hp1 NA19067.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0001 a0001c0001t0001g0109	9	416	0.0216	21	c.26 others(32): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTT		PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding					2252		chr8	TogoVar
PACC1_chr1_212358928_212419886	212375127	T T	TCTATCAT others(14): Show TCTATCATAATCTTAAATAATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	374	0.0027	21	c.891 others(34): Show c.891+45_891+65dupTATTATTTAAGATTATGATAG		PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	7/7						chr1	TogoVar
PACRGL_chr4_20695458_20737557	20729510	A A	ATGCCAGA others(14): Show ATGCCAGATAAAACTAATTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG03834.hp2 HG02738.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0144 a0001c0001t0020g0145 a0001c0001t0020g0144 a0001c0001t0020g0145	2	412	0.0049	21	c.21 others(32): Show c.2170_*2190dupTGCCAGATAAAACTAATTTCT		PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9				2191	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162847039	C C	CGCTGACT others(14): Show CGCTGACTGCCGTGCTCCTCAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG02055.hp2 others(7): Show HG00741.hp1 HG01361.hp2 HG02055.hp2 HG02148.hp2 HG02886.hp1 HG03225.hp1 HG03704.hp1 NA18959.hp2 NA18971.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0011	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0118 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0118 a0001c0001t0003g0120 a0001c0001t0004g0076 a0001c0001t0005g0083 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0004t0011g0034	10	130	0.0769	21	c.291 others(40): Show c.291+32769_291+32789dupGTGCTCCTCATGCTGACTGCC		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162847086	C C	CCCACTGT others(14): Show CCCACTGTGCTCCCCACACTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01943.hp1 HG02109.hp2 others(12): Show HG01255.hp1 HG01943.hp1 HG02109.hp2 HG02148.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03471.hp1 NA18955.hp2 NA18965.hp1 NA18965.hp2 NA19060.hp2 NA19063.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0002t0010 a0001c0003t0003	a0001c0001t0001g0038 a0001c0001t0001g0108 a0001c0001t0001g0110 others(12): Show a0001c0001t0001g0038 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0004g0084 a0001c0001t0014g0109 a0001c0002t0010g0064 a0001c0003t0003g0065	15	130	0.1154	21	c.291 others(40): Show c.291+32827_291+32847dupCCACTGTGCTCCCCACACTGT		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162852001	G G	GAGGAAGG others(14): Show GAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	130	0.0077	21	c.291 others(40): Show c.291+37723_291+37724insAAGGAAGGAAGGAAGGAAAGG		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162852005	G G	GAGGAAGG others(14): Show GAGGAAGGAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	130	0.0077	21	c.291 others(40): Show c.291+37737_291+37738insAGGAAGGAAGGAAGGAAGGAA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163177710	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	130	0.0077	21	c.613 others(40): Show c.613+88309_613+88329dupTTTTTTTTTTTTTTTTTTTTT		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66202726	G G	GGGGAAAA others(14): Show GGGGAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	322	0.0031	21	c.445 others(38): Show c.445-7636_445-7635insGGGAAAAAAAAAAAAAAAAAA		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23						chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	322	0.0031	21	c.445 others(38): Show c.445-7619_445-7618insAAAAAAAAAAAAAAAAAAATA		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	322	0.0031	21	c.445 others(38): Show c.445-7619_445-7618insAAAAAAAAAAAAAAAAATATA		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	322	0.0031	21	c.445 others(38): Show c.445-7619_445-7618insAAAAATATATATATATATATA		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN1_chr6_34461076_34540223	34508100	T T	TGTTTGTT others(14): Show TGTTTGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0064 a0001c0001t0015g0079 a0001c0001t0001g0064 a0001c0001t0015g0079	2	310	0.0065	21	c.-63 others(40): Show c.-63-18143_-63-18142insGTTTGTTTGTTTGTTTGTTTG		PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding	1/9						chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42884014	A A	AAAAAAGA others(14): Show AAAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02818.hp1 others(4): Show HG02109.hp2 HG02486.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 others(4): Show a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079	7	294	0.0238	21	c.785 others(36): Show c.785+371_785+372insCTTTTCTTTTCTTTTCTTTTT		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	6/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42954883	A A	AAACTGGT others(14): Show AAACTGGTTTGGGATGAAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02257.hp2 others(25): Show HG01109.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0003t0004 a0001c0003t0020 a0002c0004t0003	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(25): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0254 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0012g0145 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0020g0251 a0002c0004t0003g0166 a0002c0004t0003g0167 a0002c0004t0003g0169 a0002c0004t0003g0170 a0002c0004t0003g0171 a0002c0004t0003g0188 a0002c0004t0003g0248 a0002c0004t0003g0249 a0002c0004t0003g0250 a0002c0004t0003g0255	28	294	0.0952	21	c.-77 others(40): Show c.-77-42727_-77-42726insATTTTTCATCCCAAACCAGTT		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982888	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01952.hp2 HG04199.hp2 HG01257.hp2 HG01952.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0032	3	294	0.0102	21	c.-78 others(40): Show c.-78+32132_-78+32133insGTTTTTTTTTTTTTTTTTTTT		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19063.hp1 NA18952.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0026 a0001c0002t0003g0005 a0001c0002t0003g0026	2	294	0.0068	21	c.-78 others(38): Show c.-78+4622_-78+4623insATATATATATATATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01261.hp1 others(7): Show HG01099.hp2 HG01106.hp2 HG01261.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG03239.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0173 a0001c0002t0003g0021 a0001c0002t0003g0022 others(7): Show a0001c0001t0001g0173 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0082 a0001c0002t0003g0271	10	294	0.0340	21	c.-78 others(38): Show c.-78+4622_-78+4623insAAATATATATATATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00741.hp2 others(15): Show HG00323.hp1 HG00423.hp2 HG00741.hp2 HG01167.hp2 HG01257.hp2 HG01433.hp1 HG01975.hp1 HG01993.hp1 HG02258.hp1 HG02698.hp2 HG03209.hp1 HG03225.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 NA19009.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0004 a0003c0006 a0001c0002 a0002c0004 a0003c0006	a0001c0002t0003 a0001c0002t0022 a0002c0004t0003 others(1): Show a0001c0002t0003 a0001c0002t0022 a0002c0004t0003 a0003c0006t0003	a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 others(15): Show a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0083 a0001c0002t0003g0168 a0001c0002t0003g0240 a0001c0002t0022g0018 a0002c0004t0003g0169 a0002c0004t0003g0170 a0002c0004t0003g0171 a0003c0006t0003g0004	18	294	0.0612	21	c.-78 others(38): Show c.-78+4622_-78+4623insAAAAATATATATATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01496.hp1 others(4): Show HG00099.hp2 HG00642.hp1 HG01496.hp1 HG02683.hp2 HG02922.hp1 HG03710.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0003 a0002c0004t0003 a0001c0002t0003 a0002c0004t0003	a0001c0002t0003g0003 a0001c0002t0003g0012 a0001c0002t0003g0013 others(4): Show a0001c0002t0003g0003 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0027 a0001c0002t0003g0041 a0001c0002t0003g0162 a0002c0004t0003g0167	7	294	0.0238	21	c.-78 others(38): Show c.-78+4622_-78+4623insAAAAAAATATATATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	294	0.0034	21	c.-78 others(38): Show c.-78+4622_-78+4623insAAAAAAAAATATATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	294	0.0034	21	c.-78 others(38): Show c.-78+4622_-78+4623insAAAAAAAAAAATATATATATA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	406	0.0025	21	c.43 others(32): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAA		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding					2630		chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	368	0.0027	21	c.-50 others(30): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAAA		PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding					461		chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02897.hp2 NA18983.hp1 HG02630.hp1 HG02897.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0005 a0002c0005t0005 a0001c0001t0005 a0002c0005t0005	a0001c0001t0005g0044 a0001c0001t0005g0294 a0002c0005t0005g0345 a0001c0001t0005g0044 a0001c0001t0005g0294 a0002c0005t0005g0345	3	412	0.0073	21	c.368 others(36): Show c.368-808_368-788dupTTTTTTTTTTTTTTTTTTTTT		PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17398662	C C	CACCCACC others(14): Show CACCCACCCACCCACCCACCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	412	0.0024	21	c.169 others(36): Show c.1690-24_1690-23insACCCACCCACCCACCCACCCA		PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	14/15						chr1	TogoVar
PADI6_chr1_17367196_17406699	17398662	C C	CCCCCACC others(14): Show CCCCCACCCACCCACCCACCCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	412	0.0024	21	c.169 others(36): Show c.1690-21_1690-20insCACCCACCCACCCACCCACCC		PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B1_chr17_2588654_2690615	2623752	A A	AGGTAGCT others(14): Show AGGTAGCTGGGATCCCAGCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG01070.hp1 others(48): Show HG00438.hp2 HG00733.hp1 HG01070.hp1 HG01168.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0234 a0001c0001t0003g0217 a0001c0001t0003g0225 others(48): Show a0001c0001t0002g0234 a0001c0001t0003g0217 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0004g0192 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0007g0196 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0271 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0011g0233 a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0270 a0001c0001t0013g0218 a0001c0001t0013g0253 a0001c0001t0024g0193 a0001c0001t0032g0197 a0001c0001t0034g0251 a0001c0001t0035g0204 a0001c0001t0037g0272 a0001c0001t0038g0238	51	280	0.1821	21	c.-19 others(42): Show c.-190-14346_-190-14326dupGGTAGCTGGGATCCCAGCCAC		PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
PAH_chr12_102831889_102922244	102895869	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	312	0.0032	21	c.169 others(36): Show c.169-952_169-951insATATATATATATATTTTTTTT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12						chr12	TogoVar
PAH_chr12_102831889_102922244	102895869	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp2 HG02451.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0301 a0001c0004t0008g0303 a0001c0004t0008g0301 a0001c0004t0008g0303	2	312	0.0064	21	c.169 others(36): Show c.169-952_169-951insATATATATATATATATATATT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12						chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp1 HG02040.hp1 others(22): Show HG01168.hp2 HG01255.hp1 HG02040.hp1 HG02698.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18982.hp1 NA19006.hp1 NA19070.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19090.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0009 a0001c0001 a0001c0006 a0005c0009	a0001c0001t0001 a0001c0006t0001 a0005c0009t0001 a0001c0001t0001 a0001c0006t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0182 a0001c0001t0001g0185 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0006t0001g0017 a0005c0009t0001g0281	25	350	0.0714	21	c.125 others(40): Show c.1253-1798_1253-1778dupTTTTTTTTTTTTTTTTTTTTT		PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10						chr5	TogoVar
PAK1_chr11_77317017_77479094	77415976	G G	GTATTATT others(14): Show GTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01978.hp1 HG02145.hp2 others(20): Show HG01074.hp2 HG01978.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18946.hp1 NA18952.hp1 NA19009.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0228 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0247 a0001c0001t0003g0259 a0001c0001t0003g0262 a0001c0001t0009g0290 a0001c0001t0009g0291 a0001c0001t0010g0301 a0001c0001t0010g0302	23	302	0.0762	21	c.-21 others(40): Show c.-21-23436_-21-23435insATAATAATAATAATAATAATA		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02148.hp2 NA18967.hp2 others(2): Show HG01081.hp2 HG02148.hp2 NA18967.hp2 NA19005.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0002g0178	5	302	0.0166	21	c.-21 others(40): Show c.-21-36536_-21-36516dupTTTTTTTTTTTTTTTTTTTTT		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14						chr11	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA18953.hp1 NA19010.hp2 HG04199.hp1 NA18953.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0007g0029 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0007g0029	3	178	0.0169	21	c.-48 others(32): Show c.-4885_-4884insAAAAAAAAAAAAAAAAAAAAA		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(14): Show ATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0063 a0001c0003t0008g0063	1	178	0.0056	21	c.-22 others(40): Show c.-22+11538_-22+11539insTATATATATATATATAATTAC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14						chr3	TogoVar
PAK2_chr3_196734857_196837647	196806576	C C	CAGCTGAA others(14): Show CAGCTGAATGCCAAGGGAACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0113 a0001c0002t0059g0113	1	178	0.0056	21	c.469 others(30): Show c.469-1_488dupGCTGAATGCCAAGGGAACAGA	p.Glu others(34): Show p.Glu163_Ala164insLeuAsnAlaLysGlyThrGlu	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	6/15	811/6139	489/1575	163/524		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833454	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	178	0.0056	21	c.50 others(32): Show c.5049_*5050insTATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					808		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833456	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	178	0.0056	21	c.50 others(32): Show c.5051_*5052insTATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					810		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833462	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 NA18995.hp1 NA18995.hp2 HG01074.hp2 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0065 a0001c0001t0002 a0001c0001t0018 a0001c0001t0065	a0001c0001t0002g0097 a0001c0001t0018g0084 a0001c0001t0065g0074 a0001c0001t0002g0097 a0001c0001t0018g0084 a0001c0001t0065g0074	3	178	0.0169	21	c.50 others(32): Show c.5057_*5058insTATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					816		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	178	0.0056	21	c.50 others(32): Show c.5065_*5066insTATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	178	0.0056	21	c.50 others(32): Show c.5067_*5068insTATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					826		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02895.hp2 others(1): Show HG02055.hp1 HG02647.hp1 HG02895.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0033 others(1): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0033 a0001c0001t0053	a0001c0001t0007g0071 a0001c0001t0021g0042 a0001c0001t0033g0043 others(1): Show a0001c0001t0007g0071 a0001c0001t0021g0042 a0001c0001t0033g0043 a0001c0001t0053g0006	4	178	0.0225	21	c.58 others(32): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAA		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					1606		chr3	TogoVar
PAK4_chr19_39120786_39184404	39145800	C C	CTGCCCAC others(14): Show CTGCCCACCCTCACCCGCCCTG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	368	0.0027	21	c.-96 others(40): Show c.-96+19883_-96+19903dupGCCCACCCTCACCCGCCCTGT		PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165192	G G	GATAATAA others(14): Show GATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01168.hp1 others(18): Show HG00423.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG02074.hp2 HG02572.hp2 NA18940.hp2 NA18951.hp1 NA18952.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19030.hp2 NA19054.hp1 NA19064.hp2 NA19080.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0001c0024 a0003c0013 others(1): Show a0001c0001 a0001c0024 a0003c0013 a0018c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0024t0001 a0003c0013t0001 a0018c0028t0012	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0064 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0261 a0001c0001t0003g0061 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0024t0001g0080 a0003c0013t0001g0114 a0018c0028t0012g0011	21	368	0.0571	21	c.-95 others(38): Show c.-95-3036_-95-3035insAATAATAATAATAATAATAAT		PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar

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