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
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(17): Show CACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0088 a0001c0003t0018g0088	1	304	0.0033	24	c.481 others(43): Show c.481-12524_481-12523insATATATATATATATGTGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(17): Show CACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01346.hp2 others(10): Show HG00597.hp1 HG00597.hp2 HG01346.hp2 HG01361.hp1 HG02300.hp2 HG03516.hp2 NA18939.hp2 NA18946.hp2 NA18964.hp2 NA18995.hp2 NA19009.hp2 NA19085.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0005c0010t0001	a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0001g0222 others(10): Show a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0002g0148 a0001c0001t0003g0290 a0001c0002t0001g0127 a0001c0002t0003g0227 a0005c0010t0001g0091	13	304	0.0428	24	c.481 others(43): Show c.481-12524_481-12523insATATATATATATATATGTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(17): Show CACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	304	0.0033	24	c.481 others(43): Show c.481-12524_481-12523insATATATATATATATATATGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01106.hp2 others(11): Show HG00099.hp1 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01361.hp2 HG02258.hp1 HG02965.hp2 HG02970.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp2 NA19054.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0021 a0001c0007t0006	a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0217 others(11): Show a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0217 a0001c0001t0005g0079 a0001c0002t0002g0151 a0001c0002t0003g0111 a0001c0002t0003g0122 a0001c0002t0003g0153 a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0006g0191 a0001c0003t0001g0225 a0001c0003t0021g0196 a0001c0007t0006g0022	14	304	0.0461	24	c.481 others(43): Show c.481-45579_481-45578insTATATATATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(17): Show TATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0088 a0001c0003t0018g0088	1	304	0.0033	24	c.480 others(43): Show c.480+54093_480+54094insGTGTGTGTGTGTATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	304	0.0033	24	c.480 others(43): Show c.480+54093_480+54094insGTGTGTGTATATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0016 a0001c0001t0001 a0001c0004t0016	a0001c0001t0001g0015 a0001c0004t0016g0218 a0001c0001t0001g0015 a0001c0004t0016g0218	2	304	0.0066	24	c.480 others(43): Show c.480+54093_480+54094insGTGTGTATATATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PABIR2_chrX_134764566_134802205	134788140	A A	AATATACA others(17): Show AATATACACGTTATATATGTGTAAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0128 a0001c0001t0016g0128	1	217	0.0046	24	c.435 others(39): Show c.435+589_435+590insATTACACATATATAACGTGTATAT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR2_chrX_134764566_134802205	134788146	T T	TACGTTAT others(17): Show TACGTTATATATGTGTAATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01884.hp1 others(24): Show HG01069.hp1 HG01256.hp1 HG01884.hp1 HG01934.hp1 HG02071.hp1 HG02083.hp1 HG02257.hp1 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG02922.hp2 HG02970.hp1 HG03834.hp2 NA18906.hp2 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18982.hp1 NA18990.hp1 NA19012.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19082.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0033 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0006g0032 a0001c0001t0006g0116	27	217	0.1244	24	c.435 others(39): Show c.435+560_435+583dupGTATATATTACACATATATAACGT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABPC1L2A_chrX_73072276_73084512	73080188	T T	TGCTGCGG others(17): Show TGCTGCGGGGCTGCGGGGCTGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	274	0.0037	24	c.-80 others(33): Show c.-803_-802insCCCGCAGCCCCGCAGCCCCGCAGC	PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding		677		chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73002749	G G	GGCAGCCC others(17): Show GGCAGCCCCGCAGCCCCGCAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA19065.hp1 HG02630.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0000 a0001c0001t0015g0000 a0001c0001t0001g0000 a0001c0001t0015g0000	2	294	0.0068	24	c.-89 others(33): Show c.-894_-893insGCAGCCCCGCAGCCCCGCAGCCCC	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		189		chrX	TogoVar
PABPC1L_chr20_44905060_44944316	44931061	T T	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03098.hp1 NA18970.hp1 others(1): Show HG01069.hp2 HG03098.hp1 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0220 a0001c0001t0002g0036 a0001c0001t0002g0237 a0001c0001t0001g0220 a0001c0001t0002g0036 a0001c0001t0002g0237	4	396	0.0101	24	c.123 others(41): Show c.1239+341_1239+364dupCCCTCCCTCCCTCCCTCCCTCCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp1 HG00741.hp2 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0068 a0001c0003t0005g0192 a0001c0003t0005g0068 a0001c0003t0005g0192	2	396	0.0051	24	c.123 others(41): Show c.1239+364_1239+365insCCCTCCCTCCCTCCCTTCCTTCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	396	0.0025	24	c.123 others(41): Show c.1239+364_1239+365insCCCTCCCTCCCTTCCTTCCTTCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp1 others(25): Show HG00140.hp1 HG00408.hp2 HG00639.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01975.hp1 HG02015.hp2 HG02055.hp2 HG02280.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18971.hp2 NA18974.hp1 NA18983.hp1 NA18998.hp1 NA19009.hp1 NA19054.hp1 NA19056.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0002c0007t0001 a0001c0001t0001 a0001c0003t0001 a0002c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0085 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0222 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0089 a0002c0007t0001g0158	28	396	0.0707	24	c.123 others(41): Show c.1239+364_1239+365insCCCTCCCTTCCTTCCTTCCTTCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(17): Show CCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18941.hp1 NA18950.hp2 others(3): Show HG03139.hp2 NA18941.hp1 NA18950.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0003t0001g0133	6	396	0.0152	24	c.123 others(41): Show c.1239+364_1239+365insCCCTTCCTTCCTTCCTTCCTTCCT	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(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	24	c.26 others(35): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	24	c.30 others(35): Show c.3034_*3035insAAAAAAAAAAAAAAAAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PACRG_chr6_162722974_163320500	162727283	A A	AGGGGCGA others(17): Show AGGGGCGAAGGTGAGGGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01169.hp2 others(15): Show HG00323.hp1 HG00741.hp1 HG01169.hp2 HG01346.hp2 HG01517.hp1 HG02257.hp2 HG02451.hp1 HG02896.hp1 HG03017.hp2 HG04184.hp2 NA18945.hp1 NA18959.hp2 NA18965.hp2 NA18981.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0002t0018 a0001c0003t0009	a0001c0001t0002g0057 a0001c0001t0004g0070 a0001c0001t0004g0073 others(15): Show a0001c0001t0002g0057 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0083 a0001c0001t0008g0069 a0001c0001t0008g0074 a0001c0001t0009g0088 a0001c0001t0017g0085 a0001c0002t0018g0063 a0001c0003t0009g0080	18	130	0.1385	24	c.-95 others(33): Show c.-953_-952insGGGGCGAAGGTGAGGGGCGGCGGC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		690		chr6	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18522.hp1 NA18965.hp2 others(1): Show HG02896.hp1 NA18522.hp1 NA18965.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013	a0001c0001t0004g0084 a0001c0001t0005g0078 a0001c0001t0009g0088 others(1): Show a0001c0001t0004g0084 a0001c0001t0005g0078 a0001c0001t0009g0088 a0001c0001t0013g0013	4	130	0.0308	24	c.156 others(43): Show c.156+19102_156+19103insATATATATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947595	C C	CATATATA others(17): Show CATATATATATATAATCATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	130	0.0077	24	c.292 others(45): Show c.292-114541_292-114518dupATCATATATATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	130	0.0077	24	c.292 others(43): Show c.292-80844_292-80843insATATATATATATATATATATATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163224368	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01884.hp1 HG01981.hp2 others(1): Show HG01517.hp1 HG01884.hp1 HG01981.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0056 a0001c0001t0002g0090 a0001c0001t0008g0074 others(1): Show a0001c0001t0001g0056 a0001c0001t0002g0090 a0001c0001t0008g0074 a0001c0001t0014g0109	4	130	0.0308	24	c.614 others(43): Show c.614-90456_614-90433dupAAAAAAAAAAAAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163276008	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG06807.hp2 HG01109.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0019 a0001c0001t0012g0010 a0001c0001t0001g0019 a0001c0001t0012g0010	2	130	0.0154	24	c.614 others(43): Show c.614-38812_614-38789dupCTTTCTTTCTTTCTTTCTTTCTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319541	T T	TATATATA others(17): Show TATATATATATACACATATAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	130	0.0077	24	c.45 others(35): Show c.4554_*4555insATATATATATACACATATAGAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4042		chr6	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	322	0.0031	24	c.445 others(41): Show c.445-7619_445-7618insAAAAAAAAAAAAAAAAAATATATA	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(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0310 a0001c0003t0001g0310	1	322	0.0031	24	c.445 others(41): Show c.445-7619_445-7618insAAAAAAAAAAAATATATATATATA	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(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	322	0.0031	24	c.445 others(41): Show c.445-7619_445-7618insAAAAAAAAAATATATATATATATA	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(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0139 a0001c0001t0008g0139	1	322	0.0031	24	c.445 others(41): Show c.445-7619_445-7618insAAAAAAAATATATATATATATATA	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(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02273.hp2 HG02074.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0035 a0001c0001t0001g0041	2	322	0.0062	24	c.445 others(41): Show c.445-7619_445-7618insAAAAAATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN1_chr6_34461076_34540223	34470175	C C	CTATTATT others(17): Show CTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp2 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0082 a0001c0003t0001g0083 a0001c0001t0003g0082 a0001c0003t0001g0083	2	310	0.0065	24	c.-64 others(41): Show c.-64+3927_-64+3928insATTATTATTATTATTATTATTATT	PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03130.hp1 NA18940.hp1 others(5): Show HG01099.hp1 HG03130.hp1 NA18940.hp1 NA18952.hp1 NA18998.hp2 NA19007.hp1 NA19063.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0069 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0165 a0001c0001t0002g0113 a0001c0001t0002g0203 a0001c0001t0002g0239	8	294	0.0272	24	c.454 others(39): Show c.454-599_454-576dupGTGTGTGTGTGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42969043	C C	CTCCATCC others(17): Show CTCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18964.hp2 NA18970.hp1 others(3): Show NA18522.hp1 NA18964.hp2 NA18970.hp1 NA19056.hp2 NA19063.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0160	6	294	0.0204	24	c.-78 others(43): Show c.-78+45954_-78+45977dupTGGATGGATGGATGGATGGATGGA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01346.hp2 others(2): Show HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02602.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0009 a0001c0002t0003 a0001c0003t0009	a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 others(2): Show a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0003t0009g0085	5	294	0.0170	24	c.-78 others(41): Show c.-78+4622_-78+4623insAAAAAATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0269 a0001c0002t0003g0269	1	294	0.0034	24	c.-78 others(41): Show c.-78+4622_-78+4623insAAAAAAAATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17235273	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01070.hp2 others(1): Show HG00323.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0004 a0002c0007t0001 a0001c0001t0004 a0002c0007t0001	a0001c0001t0004g0278 a0001c0001t0004g0301 a0002c0007t0001g0013 a0001c0001t0004g0278 a0001c0001t0004g0301 a0002c0007t0001g0013	4	406	0.0099	24	c.131 others(43): Show c.1314-2022_1314-2021insAGGAGGGAAGGAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235277	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp2 HG01243.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0019 a0001c0002t0001 a0001c0004t0019	a0001c0002t0001g0060 a0001c0004t0019g0087 a0001c0002t0001g0060 a0001c0004t0019g0087	2	406	0.0049	24	c.131 others(43): Show c.1314-2022_1314-2021insAGGAAGGAGGGAAGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235281	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0129	1	406	0.0025	24	c.131 others(43): Show c.1314-2022_1314-2021insAGGAAGGAAGGAGGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235283	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAGGGAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02615.hp1 HG01109.hp2 HG02280.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0005t0008 a0001c0001t0008 a0001c0005t0008	a0001c0001t0008g0368 a0001c0001t0008g0389 a0001c0005t0008g0343 a0001c0001t0008g0368 a0001c0001t0008g0389 a0001c0005t0008g0343	3	406	0.0074	24	c.131 others(43): Show c.1314-2022_1314-2021insAGGAAGGAGGGAAGAAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235289	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(18): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18966.hp2 NA18969.hp1 NA18998.hp2 NA19066.hp1 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001	a0001c0002t0001g0007 a0001c0002t0001g0041 a0001c0002t0001g0046 others(17): Show a0001c0002t0001g0007 a0001c0002t0001g0041 a0001c0002t0001g0046 a0001c0002t0001g0057 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0143 a0001c0002t0001g0169 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0260 a0001c0002t0001g0355 a0001c0002t0001g0372 a0001c0004t0001g0128 a0001c0004t0001g0317 a0001c0004t0001g0384 a0001c0004t0001g0388 a0001c0006t0001g0182	21	406	0.0517	24	c.131 others(43): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAGGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01515.hp1 HG01517.hp1 others(4): Show HG00621.hp1 HG01515.hp1 HG01517.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001	a0001c0002t0001g0003 a0001c0002t0001g0062 a0001c0002t0001g0101 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0062 a0001c0002t0001g0101 a0001c0002t0001g0237 a0001c0004t0001g0137 a0001c0006t0001g0123	7	406	0.0172	24	c.43 others(35): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01515.hp1 HG01517.hp2 others(4): Show HG00621.hp2 HG01515.hp1 HG01517.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 NA19064.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0004 a0007c0012t0004 a0001c0001t0004 a0007c0012t0004	a0001c0001t0004g0020 a0001c0001t0004g0077 a0001c0001t0004g0078 others(4): Show a0001c0001t0004g0020 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0007c0012t0004g0081	7	368	0.0190	24	c.-50 others(33): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding		461		chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG03516.hp1 HG02922.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0304 a0001c0001t0005g0349 a0001c0001t0006g0037 a0001c0001t0005g0304 a0001c0001t0005g0349 a0001c0001t0006g0037	3	412	0.0073	24	c.368 others(39): Show c.368-788_368-787insTTTTTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135563354	T T	TTAGGTGA others(17): Show TTAGGTGAACAGGTGGGCAGGTGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(452): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0012 a0002c0003t0001 a0003c0004t0001 a0004c0006t0004 a0005c0005t0010	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0004g0011 a0001c0001t0004g0024 a0001c0001t0004g0031 a0001c0001t0006g0013 a0001c0001t0007g0023 a0001c0001t0008g0003 a0001c0001t0008g0036 a0001c0001t0011g0064 a0001c0007t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0002g0001 a0002c0002t0002g0010 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0038 a0002c0002t0009g0020 a0002c0002t0012g0001 a0002c0003t0001g0016 a0003c0004t0001g0003 a0004c0006t0004g0024 a0005c0005t0010g0032	455	464	0.9806	24	c.310 others(39): Show c.310+484_310+485insATAGGTGAACAGGTGGGCAGGTGG	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAFAH1B3_chr19_42292035_42307624	42295500	T T	TGCAGGCC others(17): Show TGCAGGCCTTGGGCCACAGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	24	c.15 others(35): Show c.1554_*1577dupGCCTCCCTGTGGCCCAAGGCCTGC	PAFAH1B3	ENSG00000079462.8	transcript	ENST00000262890.8	protein_coding		1534		chr19	TogoVar
PAH_chr12_102831889_102922244	102867950	C C	CATATATA others(17): Show CATATATAGATGTATATATACATGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0240 a0001c0009t0013g0240	1	312	0.0032	24	c.442 others(41): Show c.442-1311_442-1288dupACATGTATATATACATCTATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp1 HG01981.hp1 others(3): Show HG00639.hp2 HG01358.hp1 HG01981.hp1 HG01981.hp2 HG03491.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0002g0164 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0200 a0001c0001t0002g0201	6	312	0.0192	24	c.169 others(41): Show c.169-4964_169-4941dupTTTTTTTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43522014	A A	AGGAGCGT others(17): Show AGGAGCGTCTCTGCCCGGCCGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	350	0.0029	24	c.53 others(35): Show c.5361_*5362insATGGCGGCCGGGCAGAGACGCTCC	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding		4252		chr5	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp2 HG02015.hp2 others(5): Show HG01433.hp2 HG01496.hp2 HG02015.hp2 HG02523.hp1 HG02523.hp2 HG03492.hp1 NA18955.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0001 a0001c0001t0001 a0002c0009t0001	a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0217 others(5): Show a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0295 a0002c0009t0001g0304	8	350	0.0229	24	c.125 others(43): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77415976	G G	GTAGTATT others(17): Show GTAGTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	302	0.0033	24	c.-21 others(43): Show c.-21-23436_-21-23435insATAATAATAATAATAATAATACTA	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar

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