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
P2RX2_chr12_132613776_132627388	132619234	G G	GGGCTGGG others(25): Show GGGCTGGGACCAGGGGCGCGGGGCAGGGGCTGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0022 a0001c0004t0004g0022	2	384	0.0052	32	c.174 others(47): Show c.174-174_174-173insCGGCTGGGACCAGGGGCGCGGGGCAGGGGC TG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3699874	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	196	0.0051	32	c.-38 others(43): Show c.-3870_-3869insCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3720		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699874	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0208 a0002c0002t0003g0208	1	196	0.0051	32	c.-38 others(43): Show c.-3870_-3869insCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3720		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699874	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	196	0.0051	32	c.-38 others(43): Show c.-3870_-3869insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3720		chr17	TogoVar
P2RX7_chr12_121127876_121193032	121130820	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02976.hp1 HG03139.hp1 HG01891.hp1 HG02976.hp1 HG03139.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0010 a0004c0003t0010	a0004c0003t0010g0300 a0004c0003t0010g0301 a0004c0003t0010g0328 a0004c0003t0010g0300 a0004c0003t0010g0301 a0004c0003t0010g0328	3	223	0.0135	32	c.-21 others(43): Show c.-2151_-2150insGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2055		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0284 a0007c0008t0001g0284	1	41	0.0244	32	c.125 others(49): Show c.125+2929_125+2930insAAAAAAAAAAAAAAAAAATATATATATA TATA	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(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0291 a0005c0006t0001g0291	1	41	0.0244	32	c.125 others(49): Show c.125+2929_125+2930insAAAAAAAAAAAAAATATATATATATATA TATA	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(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18975.hp2 NA18989.hp1 others(1): Show NA18960.hp2 NA18975.hp2 NA18989.hp1 NA19056.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0313 a0005c0006t0001g0310 a0005c0006t0001g0311 others(1): Show a0002c0002t0001g0313 a0005c0006t0001g0310 a0005c0006t0001g0311 a0005c0006t0001g0312	4	44	0.0909	32	c.125 others(49): Show c.125+2929_125+2930insAAAAAAAAAAAATATATATATATATATA TATA	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 NA18953.hp2 others(1): Show HG00140.hp1 HG00323.hp1 NA18953.hp2 NA18986.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0006 a0008c0007 a0001c0001 a0005c0006 a0008c0007	a0001c0001t0001 a0005c0006t0001 a0008c0007t0002 a0001c0001t0001 a0005c0006t0001 a0008c0007t0002	a0001c0001t0001g0331 a0005c0006t0001g0329 a0005c0006t0001g0330 others(1): Show a0001c0001t0001g0331 a0005c0006t0001g0329 a0005c0006t0001g0330 a0008c0007t0002g0332	4	44	0.0909	32	c.125 others(49): Show c.125+2929_125+2930insAAAAAAAAAATATATATATATATATATA TATA	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(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0342 a0002c0033t0001g0342	1	41	0.0244	32	c.125 others(49): Show c.125+2929_125+2930insAAAAAAAATATATATATATATATATATA TATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY10_chrX_78940391_78968727	78965403	A A	ATTTTCTT others(25): Show ATTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	187	0.0053	32	c.38 others(43): Show c.3863_*3864insTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		1677		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1509722	C C	CATCTATG others(25): Show CATCTATGTATCTATCTATGTATCTATCTATGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19068.hp1 HG00408.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0001g0073 a0001c0001t0001g0112	2	106	0.0189	32	c.-25 others(51): Show c.-25+27198_-25+27199insACATAGATAGATACATAGATAGATAC ATAGAT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03209.hp1 NA18974.hp1 HG01106.hp1 HG03209.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0231 a0001c0002t0002g0101 a0001c0002t0003g0119 a0001c0001t0001g0231 a0001c0002t0002g0101 a0001c0002t0003g0119	3	43	0.0698	32	c.189 others(49): Show c.1893+593_1893+624dupATATATATATATATATATATATATATAT ATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(25): Show CACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03704.hp1 HG02258.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0163 a0001c0002t0003g0153 a0001c0002t0003g0163	2	24	0.0833	32	c.481 others(51): Show c.481-12524_481-12523insATATATATATATATGTGTGTGTGTGT GTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(25): Show CACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01106.hp1 others(7): Show HG00438.hp2 HG00609.hp1 HG01106.hp1 HG02074.hp1 HG03225.hp1 NA18747.hp2 NA18939.hp1 NA18957.hp2 NA19002.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0104 a0001c0002t0002g0042 a0001c0002t0002g0043 others(7): Show a0001c0002t0001g0104 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0100 a0001c0002t0002g0143 a0001c0002t0002g0164 a0001c0002t0002g0202 a0001c0002t0002g0214 a0001c0002t0002g0261 a0001c0002t0003g0119	10	32	0.3125	32	c.481 others(51): Show c.481-12524_481-12523insATATATATATATATATGTGTGTGTGT GTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(25): Show CACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01934.hp1 others(2): Show HG00639.hp1 HG01081.hp2 HG01934.hp1 HG02148.hp2 HG02257.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0002 a0001c0002t0003 a0004c0013t0001 a0001c0001t0002 a0001c0002t0003 a0004c0013t0001	a0001c0001t0002g0028 a0001c0002t0003g0150 a0001c0002t0003g0162 others(2): Show a0001c0001t0002g0028 a0001c0002t0003g0150 a0001c0002t0003g0162 a0001c0002t0003g0226 a0004c0013t0001g0096	5	27	0.1852	32	c.481 others(51): Show c.481-12524_481-12523insATATATATATATATATATGTGTGTGT GTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(25): Show CACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG00735.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0243 a0001c0001t0001g0106 a0001c0001t0001g0243	2	24	0.0833	32	c.481 others(51): Show c.481-12524_481-12523insATATATATATATATATATATATATGT GTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(25): Show CACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	23	0.0435	32	c.481 others(51): Show c.481-12524_481-12523insATATATATATATATATATATATATAT GTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 HG02273.hp1 others(3): Show HG02080.hp1 HG02132.hp1 HG02273.hp1 NA18945.hp1 NA19030.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0011t0001	a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0001g0188 a0001c0001t0002g0046 a0001c0001t0004g0297 a0003c0011t0001g0199	6	163	0.0368	32	c.481 others(51): Show c.481-45579_481-45578insTATATATATATATATATATATATATA TATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03516.hp2 HG02615.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0007 a0005c0010t0001 a0001c0001t0007 a0005c0010t0001	a0001c0001t0007g0249 a0005c0010t0001g0091 a0001c0001t0007g0249 a0005c0010t0001g0091	2	254	0.0079	32	c.480 others(51): Show c.480+54093_480+54094insGTGTGTGTGTGTGTATATATATATAT ATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	253	0.0040	32	c.480 others(51): Show c.480+54093_480+54094insGTGTGTGTGTGTATATATATATATAT ATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PABPC1L2B_chrX_72997939_73011106	73002749	G G	GGCAGCCC others(25): Show GGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	97	0.0103	32	c.-89 others(41): Show c.-894_-893insGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCC	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		189		chrX	TogoVar
PABPC1L_chr20_44905060_44944316	44931087	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	178	0.0056	32	c.123 others(49): Show c.1239+364_1239+365insCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCT	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(25): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	178	0.0056	32	c.123 others(49): Show c.1239+364_1239+365insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCT	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(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	178	0.0056	32	c.123 others(49): Show c.1239+364_1239+365insCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp1 HG03017.hp2 HG00323.hp1 HG02055.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0036 a0001c0001t0004g0077 a0001c0001t0008g0069 a0001c0001t0003g0036 a0001c0001t0004g0077 a0001c0001t0008g0069	3	73	0.0411	32	c.156 others(51): Show c.156+19102_156+19103insATATATATATATATATATATATATAT ATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947617	T T	TATATAAT others(25): Show TATATAATCATATATATATATATATATATAATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0034 a0001c0004t0011g0034	1	114	0.0088	32	c.292 others(53): Show c.292-114528_292-114527insATCATATATATATATATATATATA ATCATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269890	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	118	0.0085	32	c.614 others(51): Show c.614-44935_614-44934insGAAAGAAAGAAAGAAAGAAAGAAAAC AAAGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105352555	G G	GCCCCCCT others(25): Show GCCCCCCTCATCACTGTCCCCTGGGGAGACGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02451.hp2 others(6): Show HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0004 a0002c0002 a0002c0012 others(1): Show a0001c0004 a0002c0002 a0002c0012 a0008c0011	a0001c0004t0001 a0001c0004t0008 a0001c0004t0017 others(3): Show a0001c0004t0001 a0001c0004t0008 a0001c0004t0017 a0002c0002t0002 a0002c0012t0001 a0008c0011t0002	a0001c0004t0001g0005 a0001c0004t0001g0189 a0001c0004t0001g0190 others(6): Show a0001c0004t0001g0005 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0008g0192 a0001c0004t0017g0194 a0002c0002t0002g0193 a0002c0012t0001g0005 a0008c0011t0002g0195	9	208	0.0433	32	c.297 others(47): Show c.297+113_297+114insAGACGGACCCCCCTCATCACTGTCCCCTGG GG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105352623	G G	GCCTCATC others(25): Show GCCTCATCACCGTCCCCTGGGGAGACGGGCACC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	208	0.0048	32	c.297 others(47): Show c.297+178_297+209dupAGACGGGCACCCCTCATCACCGTCCCCTGG GG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105353162	C C	CATCACTG others(25): Show CATCACTGTCCCCTGGGGTGACGGGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG01891.hp2 HG02896.hp1 HG02897.hp2 NA19030.hp1 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0017 a0002c0018 others(1): Show a0002c0002 a0002c0017 a0002c0018 a0007c0013	a0002c0002t0003 a0002c0017t0043 a0002c0018t0022 others(1): Show a0002c0002t0003 a0002c0017t0043 a0002c0018t0022 a0007c0013t0015	a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0017t0043g0168 others(2): Show a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0017t0043g0168 a0002c0018t0022g0201 a0007c0013t0015g0024	5	208	0.0240	32	c.297 others(47): Show c.297+716_297+747dupCGGGCCCCCCCAATCACTGTCCCCTGGGGT GA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	83	0.0120	32	c.454 others(47): Show c.454-576_454-575insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42990038	A A	ATATATAT others(25): Show ATATATATATATACACACATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp1 NA19043.hp2 HG02572.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292	3	292	0.0103	32	c.-78 others(51): Show c.-78+24982_-78+24983insCATATATATACATATGTGTGTATATA TATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17235269	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG02071.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0249 a0001c0001t0001g0168 a0001c0001t0001g0249	2	403	0.0050	32	c.131 others(51): Show c.1314-2022_1314-2021insAGGAAGGAGGGAAGGAAGGAAGGAAG GAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235273	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02630.hp1 others(6): Show HG01884.hp1 HG01884.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03453.hp1 HG04115.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0007 others(1): Show a0001c0001 a0001c0005 a0002c0007 a0002c0026	a0001c0001t0001 a0001c0005t0001 a0002c0007t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0007t0001 a0002c0026t0001	a0001c0001t0001g0258 a0001c0001t0001g0366 a0001c0001t0001g0378 others(5): Show a0001c0001t0001g0258 a0001c0001t0001g0366 a0001c0001t0001g0378 a0001c0005t0001g0262 a0002c0007t0001g0014 a0002c0007t0001g0239 a0002c0007t0001g0380 a0002c0026t0001g0321	9	382	0.0236	32	c.131 others(51): Show c.1314-2022_1314-2021insAGGAAGGAAGGAGGGAAGGAAGGAAG GAAGGA	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(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG01069.hp2 others(12): Show HG00140.hp1 HG00597.hp1 HG01069.hp2 HG01081.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG03130.hp1 HG03704.hp1 HG04204.hp2 NA18960.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0006 others(2): Show a0001c0002 a0001c0004 a0001c0006 a0001c0033 a0003c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0004t0002 a0001c0004t0007 a0001c0006t0001 a0001c0033t0007 a0003c0012t0001	a0001c0002t0001g0142 a0001c0002t0001g0169 a0001c0002t0002g0194 others(12): Show a0001c0002t0001g0142 a0001c0002t0001g0169 a0001c0002t0002g0194 a0001c0002t0002g0237 a0001c0002t0002g0323 a0001c0002t0002g0372 a0001c0002t0007g0064 a0001c0002t0007g0213 a0001c0004t0002g0259 a0001c0004t0002g0269 a0001c0004t0007g0256 a0001c0006t0001g0236 a0001c0006t0001g0294 a0001c0033t0007g0030 a0003c0012t0001g0149	15	352	0.0426	32	c.131 others(51): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAGGGAAGGAAG GAAGGA	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(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0204 a0001c0001t0011g0200 a0001c0001t0011g0317 a0001c0001t0001g0204 a0001c0001t0011g0200 a0001c0001t0011g0317	3	401	0.0075	32	c.131 others(51): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAGGGAAGAAAG GAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235285	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0383 a0001c0014t0009g0383	1	402	0.0025	32	c.131 others(51): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAGG GAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135557978	T T	TGGTCCCT others(25): Show TGGTCCCTACTTTTCATTGTAGCTGTCCTAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(137): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0007t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0006g0014 a0001c0001t0007g0023 a0001c0001t0008g0003 a0001c0001t0011g0063 a0001c0007t0001g0003 a0002c0002t0002g0001 a0003c0004t0001g0003	140	460	0.3043	32	c.-38 others(43): Show c.-3824_-3823insGGTCCCTACTTTTCATTGTAGCTGTCCTAATA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		3777		chr9	TogoVar
PAGE1_chrX_49682447_49700984	49689776	A A	ATATATAC others(25): Show ATATATACACACATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	291	0.0034	32	c.293 others(47): Show c.293-265_293-234dupCACATATATATACATATATATGTGTGTATA TA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689804	A A	ATGTGTAT others(25): Show ATGTGTATATACACACATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	316	0.0032	32	c.293 others(47): Show c.293-293_293-262dupCATATATACACATATATGTGTGTATATACA CA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102867853	G G	GTATATAC others(25): Show GTATATACATATATAGATGTATATATACATGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02723.hp1 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0004 a0001c0006t0002 a0001c0006t0004	a0001c0006t0002g0206 a0001c0006t0004g0292 a0001c0006t0002g0206 a0001c0006t0004g0292	2	312	0.0064	32	c.442 others(49): Show c.442-1222_442-1191dupTACATGTATATATACATCTATATATGTA TATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19004.hp2 NA18957.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0201 a0001c0002t0001g0180 a0001c0001t0001g0201 a0001c0002t0001g0180	2	43	0.0465	32	c.169 others(49): Show c.169-4941_169-4940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19078.hp2 HG00609.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0001g0220 a0001c0001t0001g0237	2	18	0.1111	32	c.125 others(51): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	40	0.0250	32	c.-48 others(43): Show c.-4885_-4884insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(25): Show ATATATATATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	100	0.0100	32	c.-22 others(51): Show c.-22+11538_-22+11539insTATATATATATATATATATATATAAA AATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03942.hp1 HG00642.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0067 a0001c0001t0002 a0001c0001t0067	a0001c0001t0002g0111 a0001c0001t0067g0055 a0001c0001t0002g0111 a0001c0001t0067g0055	2	101	0.0198	32	c.-22 others(51): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA AATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196805865	G G	GGAGTTTT others(25): Show GGAGTTTTATTTTTTTATATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	176	0.0057	32	c.468 others(47): Show c.468+483_468+514dupGAGTTTTATTTTTTTATATTTTATTTTATT TT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0117 a0001c0001t0043g0117	1	126	0.0079	32	c.50 others(43): Show c.5086_*5087insTATATATATATATATATATATATATATTTATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PALD1_chr10_70473767_70573450	70488873	T T	TCTGCTGC others(25): Show TCTGCTGCTGGGGGTCTGGGTGGATGTATCCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp2 HG02717.hp1 others(2): Show HG00733.hp1 HG01243.hp2 HG02717.hp1 HG03139.hp1 HG03471.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0001 a0001c0001t0013 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0025 a0001c0001t0038 a0012c0020t0009	a0001c0001t0001g0245 a0001c0001t0013g0257 a0001c0001t0025g0247 others(2): Show a0001c0001t0001g0245 a0001c0001t0013g0257 a0001c0001t0025g0247 a0001c0001t0038g0305 a0012c0020t0009g0161	5	304	0.0164	32	c.-30 others(49): Show c.-30+9849_-30+9880dupGCTGCTGGGGGTCTGGGTGGATGTATCC TCCT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar

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