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	189966123	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02040.hp1 HG02273.hp2 others(6): Show HG01261.hp2 HG02040.hp1 HG02273.hp2 HG02300.hp2 HG02976.hp1 HG03704.hp2 NA18945.hp2 NA18951.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0002t0003 a0006c0008t0010 a0001c0001t0001 a0001c0002t0003 a0006c0008t0010	a0001c0001t0001g0038 a0001c0001t0001g0086 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0001t0001g0250 a0001c0001t0001g0271 a0001c0002t0003g0227 a0006c0008t0010g0274	9	304	0.0296	-20	c.189 others(39): Show c.1894-2045_1894-2026delCTTTCTTTCTTTCTTTCTTT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190093988	AAAAAGTG others(13): Show AAAAAGTGGTGCTATGTAGCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01071.hp1 others(7): Show HG00408.hp2 HG01069.hp2 HG01071.hp1 HG01884.hp1 HG02145.hp2 HG02965.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0003t0018	a0001c0001t0002g0082 a0001c0001t0005g0033 a0001c0001t0005g0083 others(7): Show a0001c0001t0002g0082 a0001c0001t0005g0033 a0001c0001t0005g0083 a0001c0001t0012g0298 a0001c0001t0026g0087 a0001c0002t0001g0224 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0174 a0001c0003t0018g0088	10	304	0.0329	-20	c.480 others(39): Show c.480+26244_480+26263delAGCTACATAGCACCACTTTT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190095303	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03579.hp2 HG02300.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0001 a0001c0001t0005 a0001c0005t0001	a0001c0001t0005g0083 a0001c0005t0001g0001 a0001c0001t0005g0083 a0001c0005t0001g0001	2	304	0.0066	-20	c.480 others(39): Show c.480+24929_480+24948delATATATATATATATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190119160	GGGAGGGG others(13): Show GGGAGGGGAGGGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	304	0.0033	-20	c.480 others(37): Show c.480+1072_480+1091delTCTCCTCTCCCCTCCCCTCC	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA1_chr10_73002217_73101866	73028307	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	234	0.0043	-20	c.124 others(39): Show c.1248+1944_1248+1963delGTGTGTGTGTGTGTGTGTGT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	10/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73037555	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02922.hp1 others(1): Show HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0072 others(1): Show a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0072 a0001c0002t0004g0075	4	234	0.0171	-20	c.114 others(39): Show c.1149-7205_1149-7186delAAAATATATATATATATATA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093867	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02257.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0234 a0001c0001t0005g0084 a0001c0001t0005g0234	2	234	0.0086	-20	c.-33 others(37): Show c.-33+2879_-33+2898delATATATATATATATTTTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093869	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	234	0.0043	-20	c.-33 others(37): Show c.-33+2877_-33+2896delATATATATATATATATTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093871	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18971.hp1 NA19085.hp1 HG02055.hp1 NA18971.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029	3	234	0.0128	-20	c.-33 others(37): Show c.-33+2875_-33+2894delATATATATATATATATATTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
PA2G4_chr12_56099559_56118910	56116166	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03942.hp1 NA18950.hp1 others(4): Show HG02698.hp1 HG03942.hp1 NA18950.hp1 NA19043.hp2 NA19059.hp2 NA19064.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009	7	352	0.0199	-20	c.32 others(31): Show c.3279_*3298delAAAGAAAGAAAGAAAGAAAG	PA2G4	ENSG00000170515.14	transcript	ENST00000303305.11	protein_coding		2257		chr12	TogoVar
PAAF1_chr11_73871999_73936114	73899105	TTCATTAT others(13): Show TTCATTATTTCTAACACATTG	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0284 a0003c0003t0032g0284	1	370	0.0027	-20	c.283 others(33): Show c.283-39_283-20delCATTATTTCTAACACATTGT	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAAF1_chr11_73871999_73936114	73908295	GTGTGTAT others(13): Show GTGTGTATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0027 a0001c0001t0031g0028 a0001c0001t0002g0027 a0001c0001t0031g0028	2	370	0.0054	-20	c.533 others(37): Show c.533-1070_533-1051delATATATATGTGTATATATGT	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABPC1L2B_chrX_72997939_73011106	73007813	ATATATAT others(13): Show ATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	294	0.0034	-20	c.35 others(31): Show c.3569_*3588delTATATATATATATATATATG	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		1708		chrX	TogoVar
PABPC1L_chr20_44905060_44944316	44911135	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02630.hp1 others(4): Show HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG03471.hp1 HG06807.hp2 NA19240.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0009 a0003c0006t0002g0044 a0003c0006t0002g0045 others(2): Show a0003c0006t0002g0009 a0003c0006t0002g0044 a0003c0006t0002g0045 a0003c0006t0002g0046 a0003c0006t0002g0047	7	396	0.0177	-20	c.193 others(35): Show c.193+826_193+845delATAAATAAATAAATAAATAA	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC1_chr8_100697916_100727088	100714814	TGGGGTCA others(13): Show TGGGGTCAAGCAAATCATCTG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	416	0.0024	-20	c.643 others(35): Show c.643+628_643+647delCAGATGATTTGCTTGACCCC	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding	4/14			chr8	TogoVar
PACC1_chr1_212358928_212419886	212396832	CTATCTAT others(13): Show CTATCTATCTATCTATCTATT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	374	0.0027	-20	c.134 others(37): Show c.134-9752_134-9733delAATAGATAGATAGATAGATA	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	2/7			chr1	TogoVar
PACRG_chr6_162722974_163320500	162787580	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	130	0.0077	-20	c.157 others(39): Show c.157-26565_157-26546delGTATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958872	TATATATA others(13): Show TATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0025 a0001c0001t0001g0001 a0001c0001t0003g0025	2	130	0.0154	-20	c.292 others(41): Show c.292-103276_292-103257delTATATATATATAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958876	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG02895.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0010 a0001c0001t0002 a0001c0002t0010	a0001c0001t0002g0086 a0001c0002t0010g0027 a0001c0001t0002g0086 a0001c0002t0010g0027	2	130	0.0154	-20	c.292 others(41): Show c.292-103272_292-103253delTATATATAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958878	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	130	0.0077	-20	c.292 others(41): Show c.292-103270_292-103251delTATATAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958880	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	130	0.0077	-20	c.292 others(41): Show c.292-103268_292-103249delTATAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958884	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0016 a0001c0001t0003g0028	2	130	0.0154	-20	c.292 others(41): Show c.292-103230_292-103211delGAGAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163036857	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	130	0.0077	-20	c.292 others(39): Show c.292-25254_292-25235delCCATCCATCCATCCATCCAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163174949	ATGTTTGT others(13): Show ATGTTTGTCCACAGTACAGCT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	130	0.0077	-20	c.613 others(39): Show c.613+85546_613+85565delTGTCCACAGTACAGCTTGTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269923	AAAGAAAA others(13): Show AAAGAAAACAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	130	0.0077	-20	c.614 others(39): Show c.614-44901_614-44882delGAAAACAAAGAAAGAAAGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319487	CATATATA others(13): Show CATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG03139.hp2 HG02145.hp2 HG02647.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0024 a0001c0001t0002g0086 a0001c0001t0001g0046 a0001c0001t0002g0024 a0001c0001t0002g0086	3	130	0.0231	-20	c.45 others(31): Show c.4501_*4520delATATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		3988		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319523	TATATATA others(13): Show TATATATATATATATACATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	130	0.0077	-20	c.45 others(31): Show c.4537_*4556delATATATATATATATACATAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4024		chr6	TogoVar
PACS1_chr11_66065272_66249744	66156204	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp2 others(69): Show HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00673.hp2 HG01257.hp2 HG01884.hp1 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(69): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0137 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0319 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0008g0139 a0001c0009t0001g0033	72	322	0.2236	-20	c.357 others(39): Show c.357-37251_357-37232delTATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN3_chr11_47172522_47191434	47174367	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0054 a0001c0008t0001g0054	1	364	0.0028	-20	c.35 others(31): Show c.3544_*3563delAAAAAAAAAAAAAAAAAAAA	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		3154		chr11	TogoVar
PADI1_chr1_17200128_17251007	17227530	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01255.hp2 others(5): Show HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01515.hp2 HG03831.hp1 HG03834.hp2 NA20752.hp2 NA21309.hp2	a0001 a0014 a0001 a0014	a0001c0004 a0001c0005 a0014c0021 a0001c0004 a0001c0005 a0014c0021	a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0014c0021t0022	a0001c0004t0001g0010 a0001c0004t0001g0127 a0001c0004t0001g0138 others(4): Show a0001c0004t0001g0010 a0001c0004t0001g0127 a0001c0004t0001g0138 a0001c0004t0001g0340 a0001c0004t0002g0273 a0001c0005t0001g0054 a0014c0021t0022g0390	8	406	0.0197	-20	c.653 others(37): Show c.653-1062_653-1043delAAATAAATAAATAAATAAAT	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351985	GAGAGGCA others(13): Show GAGAGGCAGTCAGGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp1 HG01346.hp2 others(4): Show HG01257.hp2 HG01261.hp1 HG01346.hp2 HG03834.hp2 HG03927.hp2 NA18941.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0006c0014	a0001c0001t0005 a0002c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0005 a0002c0002t0001 a0002c0004t0001 a0006c0014t0001	a0001c0001t0005g0053 a0002c0002t0001g0152 a0002c0002t0001g0164 others(4): Show a0001c0001t0005g0053 a0002c0002t0001g0152 a0002c0002t0001g0164 a0002c0002t0001g0219 a0002c0002t0001g0298 a0002c0004t0001g0338 a0006c0014t0001g0033	7	372	0.0188	-20	c.115 others(39): Show c.1156-2547_1156-2528delAGAGGCAGTCAGGGAGGTGA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15			chr1	TogoVar
PADI4_chr1_17303197_17369004	17352012	GAGAGGCG others(13): Show GAGAGGCGGCCAGGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0013 a0015 a0016 a0017	a0001c0001 a0001c0016 a0002c0002 others(16): Show a0001c0001 a0001c0016 a0002c0002 a0002c0004 a0002c0010 a0002c0015 a0002c0021 a0002c0030 a0003c0003 a0004c0006 a0005c0007 a0006c0031 a0007c0008 a0010c0017 a0013c0026 a0013c0028 a0015c0029 a0016c0024 a0017c0027	a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 a0002c0004t0001 a0002c0010t0001 a0002c0015t0001 a0002c0021t0001 a0002c0030t0001 a0003c0003t0001 a0004c0006t0001 a0005c0007t0001 a0006c0031t0001 a0007c0008t0001 a0010c0017t0001 a0013c0026t0001 a0013c0028t0002 a0015c0029t0006 a0016c0024t0002 a0017c0027t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0028 others(111): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0016t0001g0041 a0001c0016t0001g0069 a0002c0002t0001g0011 a0002c0002t0001g0047 a0002c0002t0001g0135 a0002c0002t0001g0145 a0002c0002t0001g0155 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0188 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0221 a0002c0002t0001g0225 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0238 a0002c0002t0001g0241 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0293 a0002c0002t0001g0300 a0002c0002t0001g0309 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0004t0001g0167 a0002c0004t0001g0192 a0002c0004t0001g0195 a0002c0004t0001g0353 a0002c0004t0001g0355 a0002c0010t0001g0165 a0002c0010t0001g0215 a0002c0015t0001g0016 a0002c0021t0001g0013 a0002c0030t0001g0311 a0003c0003t0001g0173 a0004c0006t0001g0301 a0004c0006t0001g0304 a0004c0006t0001g0358 a0005c0007t0001g0364 a0005c0007t0001g0365 a0005c0007t0001g0366 a0006c0031t0001g0267 a0007c0008t0001g0360 a0010c0017t0001g0037 a0013c0026t0001g0209 a0013c0028t0002g0191 a0015c0029t0006g0015 a0016c0024t0002g0199 a0017c0027t0001g0023	114	372	0.3065	-20	c.115 others(39): Show c.1156-2520_1156-2501delAGAGGCGGCCAGGGAGGTGA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15			chr1	TogoVar
PAFAH1B1_chr17_2588654_2690615	2662378	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	280	0.0036	-20	c.33- others(35): Show c.33-2967_33-2948delTGTGTGTGTGTGTGTGTGTG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2679506	ATGGATGG others(13): Show ATGGATGGATGGATGGATGAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02622.hp2 HG02965.hp1 others(7): Show HG01515.hp2 HG02622.hp2 HG02965.hp1 HG02976.hp2 HG03225.hp2 HG03516.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0001t0042	a0001c0001t0003g0011 a0001c0001t0003g0225 a0001c0001t0003g0227 others(7): Show a0001c0001t0003g0011 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0012g0016 a0001c0001t0012g0279 a0001c0001t0015g0280 a0001c0001t0042g0015	10	280	0.0357	-20	c.100 others(37): Show c.1003-639_1003-620delATTGGATGGATGGATGGATG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172348	TTATATAT others(13): Show TTATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01346.hp1 HG01516.hp2 others(3): Show HG01258.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG03239.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0028 a0001c0001t0006 a0001c0001t0028	a0001c0001t0006g0008 a0001c0001t0006g0014 a0001c0001t0028g0139 a0001c0001t0006g0008 a0001c0001t0006g0014 a0001c0001t0028g0139	6	432	0.0139	-20	c.46 others(31): Show c.4650_*4669delTATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1304		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117174164	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0205 a0001c0001t0103g0205	1	432	0.0023	-20	c.64 others(31): Show c.6466_*6485delTGTGTGTGTGTGTGTGTGTG	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		3120		chr11	TogoVar
PAFAH2_chr1_25954767_26003063	25955593	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	310	0.0032	-20	c.63 others(31): Show c.6376_*6395delCTTTCTTCCTTCCTTCCTTC	PAFAH2	ENSG00000158006.14	transcript	ENST00000374282.8	protein_coding		4173		chr1	TogoVar
PAGE1_chrX_49682447_49700984	49689546	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01993.hp2 HG02132.hp1 NA18747.hp1 others(15): Show HG01993.hp2 HG02132.hp1 NA18747.hp1 NA18946.hp2 NA18949.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18984.hp1 NA18992.hp2 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045	18	322	0.0559	-20	c.293 others(32): Show c.293-23_293-4delTTTTTTTTTTTTTTTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689575	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	322	0.0031	-20	c.293 others(33): Show c.293-52_293-33delATATATATATATATATATAT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690071	ATATATAT others(13): Show ATATATATGTGTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(63): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp1 HG02155.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18939.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19075.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0027 others(56): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0003t0001g0268 a0001c0003t0001g0269	66	322	0.2050	-20	c.293 others(35): Show c.293-548_293-529delCACATATATACACATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690092	TATATATG others(13): Show TATATATGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG03486.hp2 HG02451.hp1 HG02622.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0004 a0001c0001t0001 a0005c0006t0004	a0001c0001t0001g0051 a0001c0001t0001g0053 a0005c0006t0004g0052 a0001c0001t0001g0051 a0001c0001t0001g0053 a0005c0006t0004g0052	3	322	0.0093	-20	c.293 others(35): Show c.293-569_293-550delGTGTATATATACACATATAT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102871939	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	312	0.0032	-20	c.442 others(37): Show c.442-5296_442-5277delATATATATATTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102889534	GGATAGAT others(13): Show GGATAGATAGATAGACAGATA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0266 a0001c0003t0003g0274	2	312	0.0064	-20	c.352 others(37): Show c.352+5181_352+5200delTATCTGTCTATCTATCTATC	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	3/12			chr12	TogoVar
PAK1_chr11_77317017_77479094	77429075	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG03225.hp1 HG01243.hp1 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0226 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0001g0226 a0001c0001t0006g0003 a0001c0001t0006g0004	3	302	0.0099	-20	c.-21 others(39): Show c.-21-36554_-21-36535delGTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK4_chr19_39120786_39184404	39147053	CTGTCATT others(13): Show CTGTCATTGTCAATTGACAAT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	368	0.0027	-20	c.-96 others(39): Show c.-96+21150_-95-21142delACAATTGTCATTGTCAATTG	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9694304	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02622.hp1 others(9): Show HG01109.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03471.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0013 others(1): Show a0001c0002 a0001c0006 a0001c0013 a0002c0001	a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 others(4): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0022 a0001c0006t0003 a0001c0013t0010 a0002c0001t0001	a0001c0002t0003g0087 a0001c0002t0006g0004 a0001c0002t0006g0105 others(9): Show a0001c0002t0003g0087 a0001c0002t0006g0004 a0001c0002t0006g0105 a0001c0002t0006g0162 a0001c0002t0007g0068 a0001c0002t0007g0078 a0001c0002t0022g0109 a0001c0006t0003g0075 a0001c0006t0003g0077 a0001c0006t0003g0101 a0001c0013t0010g0185 a0002c0001t0001g0071	12	208	0.0577	-20	c.-12 others(39): Show c.-12+16962_-12+16981delCACAAACACACACACACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23645083	CTATATAT others(13): Show CTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01952.hp1 others(5): Show HG00741.hp2 HG01070.hp2 HG01952.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02922.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0033 others(4): Show a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0002c0002t0001g0244 a0003c0003t0001g0220	8	326	0.0245	-20	c.-39 others(31): Show c.-3946_-3927delTATATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALD1_chr10_70473767_70573450	70505603	TCAAAACA others(13): Show TCAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02965.hp2 others(1): Show HG02145.hp2 HG02486.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 others(1): Show a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 a0001c0001t0007g0238	4	308	0.0130	-20	c.-29 others(39): Show c.-29-20294_-29-20275delCAAAACAAAACAAAACAAAA	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168542717	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03209.hp1 HG02293.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0002 a0001c0022t0003 a0001c0001t0002 a0001c0022t0003	a0001c0001t0002g0145 a0001c0022t0003g0054 a0001c0001t0002g0145 a0001c0022t0003g0054	2	156	0.0128	-20	c.908 others(39): Show c.908+30332_908+30351delATATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168740617	TATGGAAA others(13): Show TATGGAAAGTTCTTTTGAAAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03516.hp2 NA18906.hp1 HG02896.hp2 HG03516.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0010 a0004c0024 a0001c0004 a0002c0010 a0004c0024	a0001c0004t0017 a0002c0010t0006 a0004c0024t0003 a0001c0004t0017 a0002c0010t0006 a0004c0024t0003	a0001c0004t0017g0048 a0002c0010t0006g0100 a0004c0024t0003g0014 a0001c0004t0017g0048 a0002c0010t0006g0100 a0004c0024t0003g0014	3	156	0.0192	-20	c.196 others(41): Show c.1964+28722_1964+28741delGTTCTTTTGAAAGATGGAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar

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