Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDP2_chr16_66875515_66896101	66893530	TATATATA others(14): Show TATATATATATATATGTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02486.hp2 others(2): Show HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0047 a0001c0001t0049 a0001c0001t0009 a0001c0001t0047 a0001c0001t0049	a0001c0001t0009g0002 a0001c0001t0047g0002 a0001c0001t0049g0002 a0001c0001t0009g0002 a0001c0001t0047g0002 a0001c0001t0049g0002	5	352	0.0142	-21	c.76 others(32): Show c.7657_*7677delATATATATATATATGTATATA		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2430		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893532	TATATATA others(14): Show TATATATATATATGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02922.hp1 NA19043.hp2 HG02809.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0050 a0001c0001t0009 a0001c0001t0018 a0001c0001t0050	a0001c0001t0009g0002 a0001c0001t0018g0017 a0001c0001t0050g0002 a0001c0001t0009g0002 a0001c0001t0018g0017 a0001c0001t0050g0002	3	353	0.0085	-21	c.76 others(32): Show c.7659_*7679delATATATATATATGTATATATA		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2432		chr16	TogoVar
PDPR_chr16_70109332_70167537	70163119	TTGTATTT others(14): Show TTGTATTTTCGTAGAGACGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0251 a0001c0001t0071g0251	1	288	0.0035	-21	c.62 others(32): Show c.6241_*6261delTGTATTTTCGTAGAGACGGGG		PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding					583		chr16	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01981.hp2 HG03688.hp1 HG03942.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0050 a0001c0001t0003 a0001c0001t0005 a0001c0001t0050	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0139 others(4): Show a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0139 a0001c0001t0003g0191 a0001c0001t0005g0138 a0001c0001t0005g0170 a0001c0001t0050g0180	7	13	0.5385	-21	c.-19 others(40): Show c.-19-13559_-19-13539delTTTTTTTTTTTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS2_chr6_107147562_107464564	107429902	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	209	0.0048	-21	c.296 others(40): Show c.296+29067_296+29087delATATATATATATATATATATA		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDXK_chr21_43714129_43767299	43741362	GGGGGGCT others(14): Show GGGGGGCTGGCGGGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA21309.hp2 NA18945.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0257 a0001c0001t0050g0334 a0001c0001t0001g0257 a0001c0001t0050g0334	2	353	0.0057	-21	c.143 others(36): Show c.143-299_143-279delCTGGCGGGGGGCTGGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43752464	AGCCGTGG others(14): Show AGCCGTGGCTGACATGTGACCG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18942.hp1 NA18966.hp1 others(10): Show NA18941.hp1 NA18942.hp1 NA18966.hp1 NA18969.hp2 NA18983.hp2 NA18998.hp2 NA19003.hp2 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0034 a0001c0001t0097	a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0254 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0254 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0032g0009 a0001c0001t0034g0301 a0001c0001t0097g0305	13	356	0.0365	-21	c.511 others(34): Show c.511-41_511-21delATGTGACCGGCCGTGGCTGAC		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37661917	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	55	0.0182	-21	c.574 others(38): Show c.574+2583_574+2603delTTTTTTTTTTTTTTTTTTTTT		PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr22	TogoVar
PDZD2_chr5_31634131_32115932	31740524	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02055.hp1 others(3): Show HG01192.hp2 HG01891.hp1 HG02055.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp2	a0001 a0015 a0018 others(2): Show a0001 a0015 a0018 a0021 a0035	a0001c0001 a0001c0050 a0015c0033 others(3): Show a0001c0001 a0001c0050 a0015c0033 a0018c0060 a0021c0042 a0035c0061	a0001c0001t0001 a0001c0050t0036 a0015c0033t0007 others(3): Show a0001c0001t0001 a0001c0050t0036 a0015c0033t0007 a0018c0060t0014 a0021c0042t0014 a0035c0061t0016	a0001c0001t0001g0079 a0001c0050t0036g0187 a0015c0033t0007g0111 others(3): Show a0001c0001t0001g0079 a0001c0050t0036g0187 a0015c0033t0007g0111 a0018c0060t0014g0204 a0021c0042t0014g0071 a0035c0061t0016g0077	6	17	0.3529	-21	c.-36 others(42): Show c.-360-58351_-360-58331delAAAAAAAAAAAAAAAAAAAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31844954	AAACAAGA others(14): Show AAACAAGAAACAAGTTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0014 a0021c0042t0014	a0021c0042t0014g0071 a0021c0042t0014g0071	1	214	0.0047	-21	c.476 others(40): Show c.476+45232_476+45252delACAAGAAACAAGTTTCTTTTA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD4_chrX_153797166_153835544	153830077	GCGCCAAC others(14): Show GCGCCAACACCCAACAGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0187 a0003c0004t0001g0187	1	279	0.0036	-21	c.60+ others(34): Show c.60+141_60+161delTGGGGCTGTTGGGTGTTGGCG		PDZD4	ENSG00000067840.13	transcript	ENST00000393758.7	protein_coding	1/7						chrX	TogoVar
PDZD8_chr10_117272274_117380440	117350797	AGGAGGCT others(14): Show AGGAGGCTGAGGCAGGAGAATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	320	0.0031	-21	c.873 others(38): Show c.873-9716_873-9696delCATTCTCCTGCCTCAGCCTCC		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02559.hp2 NA18947.hp1 others(2): Show HG02015.hp2 HG02559.hp2 NA18947.hp1 NA19062.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0005 a0001c0002t0011 a0001c0001t0020 a0001c0002t0005 a0001c0002t0011	a0001c0001t0020g0186 a0001c0002t0005g0117 a0001c0002t0005g0126 others(2): Show a0001c0001t0020g0186 a0001c0002t0005g0117 a0001c0002t0005g0126 a0001c0002t0005g0131 a0001c0002t0011g0125	5	116	0.0431	-21	c.872 others(40): Show c.872+16570_872+16590delTTTTTTTTTTTTTTTTTTTTG		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02451.hp2 HG00099.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0288 a0001c0001t0001g0259 a0001c0001t0001g0288	2	213	0.0094	-21	c.872 others(40): Show c.872+16569_872+16589delTTTTTTTTTTTTTTTTTTTTT		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73424664	AAGAAGAG others(14): Show AAGAAGAGGAAAAATCCAACAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	214	0.0047	-21	c.919 others(40): Show c.919-20290_919-20270delCTGTTGGATTTTTCCTCTTCT		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73572389	TCTAAGTT others(14): Show TCTAAGTTGACATAAAAAAGTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02109.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0002 a0001c0010t0003 a0001c0001t0002 a0001c0002t0002 a0001c0010t0003	a0001c0001t0002g0129 a0001c0002t0002g0128 a0001c0002t0002g0130 others(2): Show a0001c0001t0002g0129 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0010t0003g0185 a0001c0010t0003g0186	5	214	0.0234	-21	c.918 others(40): Show c.918+29944_918+29964delGACTTTTTTATGTCAACTTAG		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp2 others(22): Show HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01256.hp2 HG01258.hp2 HG02074.hp2 HG02523.hp1 HG02698.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG04228.hp2 NA18906.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18998.hp1 NA19058.hp2 NA19065.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0010 a0011	a0001c0001 a0001c0004 a0001c0034 others(14): Show a0001c0001 a0001c0004 a0001c0034 a0001c0042 a0002c0002 a0002c0009 a0002c0055 a0004c0003 a0004c0012 a0004c0020 a0004c0040 a0005c0008 a0005c0029 a0005c0060 a0007c0045 a0010c0051 a0011c0038	a0001c0001t0001 a0001c0004t0001 a0001c0034t0003 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0034t0003 a0001c0042t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0055t0001 a0004c0003t0001 a0004c0012t0001 a0004c0020t0001 a0004c0040t0001 a0005c0008t0003 a0005c0029t0001 a0005c0060t0001 a0007c0045t0001 a0010c0051t0001 a0011c0038t0001	a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0004t0001g0046 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0004t0001g0046 a0001c0004t0001g0072 a0001c0004t0001g0111 a0001c0034t0003g0037 a0001c0042t0001g0015 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0191 a0002c0002t0002g0162 a0002c0009t0001g0185 a0002c0055t0001g0205 a0004c0003t0001g0115 a0004c0012t0001g0047 a0004c0012t0001g0102 a0004c0012t0001g0103 a0004c0020t0001g0153 a0004c0040t0001g0075 a0005c0008t0003g0189 a0005c0029t0001g0088 a0005c0060t0001g0176 a0007c0045t0001g0125 a0010c0051t0001g0021 a0011c0038t0001g0158	25	26	0.9615	-21	c.844 others(42): Show c.844-122456_844-122436delTTTTTTTTTTTTTTTTTTTTT		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402131	ATATATAT others(14): Show ATATATATATACACACACTGAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0117 a0003c0043t0001g0117	1	206	0.0049	-21	c.844 others(42): Show c.844-104314_844-104294delCACACACTGAGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402237	ATATATAT others(14): Show ATATATATATACACACACTGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01258.hp2 HG04228.hp2 HG00099.hp2 HG01258.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0009 a0001c0004 a0002c0002 a0002c0009	a0001c0004t0001 a0002c0002t0002 a0002c0009t0001 a0001c0004t0001 a0002c0002t0002 a0002c0009t0001	a0001c0004t0001g0046 a0002c0002t0002g0162 a0002c0009t0001g0172 a0001c0004t0001g0046 a0002c0002t0002g0162 a0002c0009t0001g0172	3	206	0.0146	-21	c.844 others(42): Show c.844-104208_844-104188delCACACACTGAGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402339	ATATATAT others(14): Show ATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0090 a0002c0030t0001g0090	1	206	0.0049	-21	c.844 others(42): Show c.844-104106_844-104086delCACACAGTGTGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77298197	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp1 HG02717.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0021 a0001c0004t0019 a0001c0004t0021	a0001c0004t0019g0308 a0001c0004t0021g0306 a0001c0004t0019g0308 a0001c0004t0021g0306	2	4	0.5000	-21	c.-60 others(42): Show c.-602-11714_-602-11694delAAAAAAAAAAAAAAAAAAAAA		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
PEAK1_chr15_77103158_77425104	77352988	CAGTGAGT others(14): Show CAGTGAGTAAAACACTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0259 a0001c0001t0030g0259	1	324	0.0031	-21	c.-60 others(42): Show c.-603+12154_-603+12174delTGCCAGAGTGTTTTACTCACT		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
PELP1_chr17_4664774_4709137	4668934	CATATATA others(14): Show CATATATATATATATCACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01256.hp2 HG01346.hp2 others(2): Show HG01168.hp2 HG01256.hp2 HG01346.hp2 NA18954.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0191	5	303	0.0165	-21	c.24 others(32): Show c.2484_*2504delATGTGTGATATATATATATAT		PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding					839		chr17	TogoVar
PEMT_chr17_17500563_17596708	17586272	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	340	0.0029	-21	c.96+ others(36): Show c.96+5238_96+5258delTTTTTCTTTCTTTCTTTCTTT		PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6						chr17	TogoVar
PENK_chr8_56435957_56451641	56441740	CTTCATGA others(14): Show CTTCATGAAGCCTCCATACCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG02056.hp2 HG02622.hp2 others(2): Show HG01109.hp1 HG02056.hp2 HG02622.hp2 HG03098.hp1 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0015 a0002c0005 a0002c0015	a0002c0005t0001 a0002c0015t0001 a0002c0005t0001 a0002c0015t0001	a0002c0005t0001g0012 a0002c0015t0001g0055 a0002c0005t0001g0012 a0002c0015t0001g0055	5	434	0.0115	-21	c.315 others(28): Show c.315_335delAAGGTATGGAGGCTTCATGAA	p.Arg others(13): Show p.Arg106_Lys112del	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding	4/4	467/1251	315/804	105/267			chr8	TogoVar
PER3_chr1_7779291_7850177	7784381	GTGCGCGG others(14): Show GTGCGCGGCCGGGCGGGAGTTC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG01070.hp1 HG00673.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0370 a0001c0001t0001g0371	2	408	0.0049	-21	c.-22 others(35): Show c.-225+8_-225+28delCGCGGCCGGGCGGGAGTTCTG		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7784384	CGCGGCCG others(14): Show CGCGGCCGGGCGGGAGTTCTGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18989.hp1 NA19065.hp2 HG02647.hp2 NA18989.hp1 NA19065.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0025 a0002c0002 a0012c0025	a0002c0002t0001 a0012c0025t0001 a0002c0002t0001 a0012c0025t0001	a0002c0002t0001g0020 a0002c0002t0001g0202 a0012c0025t0001g0061 a0002c0002t0001g0020 a0002c0002t0001g0202 a0012c0025t0001g0061	3	285	0.0105	-21	c.-22 others(36): Show c.-225+32_-225+52delGGCCGGGCGGGAGTTCTGGGC		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX12_chr17_35569795_35583571	35581309	TATATATA others(14): Show TATATATACAAATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(207): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0002c0002t0008 a0004c0005t0005	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(25): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0004g0023 a0001c0001t0005g0006 a0001c0001t0005g0014 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0035 a0001c0001t0007g0007 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0009g0008 a0001c0001t0009g0021 a0001c0001t0010g0013 a0001c0001t0011g0015 a0001c0001t0011g0031 a0001c0001t0014g0028 a0001c0001t0017g0037 a0002c0002t0008g0020 a0004c0005t0005g0036	210	434	0.4839	-21	c.-33 others(32): Show c.-3309_-3289delTATATATATATTTGTATATAT		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding					2739		chr17	TogoVar
PEX12_chr17_35569795_35583571	35581330	AATATATA others(14): Show AATATATACAAATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0030 a0001c0004t0007g0030	1	257	0.0039	-21	c.-33 others(32): Show c.-3330_-3310delATTATATATATTTGTATATAT		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding					2760		chr17	TogoVar
PEX14_chr1_10469950_10635758	10577546	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	247	0.0040	-21	c.170 others(40): Show c.170-21690_170-21670delATATATATATATATATTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577548	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	231	0.0043	-21	c.170 others(40): Show c.170-21688_170-21668delATATATATATATATTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577556	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	232	0.0043	-21	c.170 others(40): Show c.170-21680_170-21660delATATATTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577562	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18969.hp1 HG01978.hp2 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0208 a0001c0002t0001g0202 a0001c0002t0001g0208	2	167	0.0120	-21	c.170 others(40): Show c.170-21648_170-21628delTTTTTTTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX3_chr6_143445805_143495616	143448069	AAAAAAGG others(14): Show AAAAAAGGATGAGTTCATCCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	410	0.0024	-21	c.-29 others(32): Show c.-2973_-2953delAAAAAGGATGAGTTCATCCTT		PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding					2735		chr6	TogoVar
PEX5_chr12_7184686_7216459	7197050	ATTATATA others(14): Show ATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	416	0.0024	-21	c.449 others(38): Show c.449-1959_449-1939delTATATATGTCACATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197074	ATTATATA others(14): Show ATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19012.hp2 NA18995.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0098 a0001c0001t0001g0051 a0001c0001t0001g0098	2	417	0.0048	-21	c.449 others(38): Show c.449-1935_449-1915delTATATATGTCACATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197171	ATTATATA others(14): Show ATTATATATGTCATATATAATG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	426	0.0023	-21	c.449 others(38): Show c.449-1838_449-1818delTATATATGTCATATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197195	ATTATATA others(14): Show ATTATATATGTCATATATAATG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	424	0.0024	-21	c.449 others(38): Show c.449-1814_449-1794delTATATATGTCATATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02738.hp1 HG03209.hp1 others(1): Show HG00741.hp2 HG02738.hp1 HG03209.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	28	0.1429	-21	c.-23 others(30): Show c.-232_-212delTTTTTTTTTTTTTTTTTTTTT		PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding					138		chr4	TogoVar
PFDN1_chr5_140240035_140308101	140264020	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03041.hp1 others(2): Show HG02622.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 others(2): Show a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130	5	47	0.1064	-21	c.285 others(40): Show c.285+17408_285+17428delTTTTTTTTTTTTTTTTTTTTT		PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3						chr5	TogoVar
PFDN1_chr5_140240035_140308101	140271955	TATATATA others(14): Show TATATATATTTATATACATAAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03041.hp1 others(3): Show HG02622.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0126 a0001c0001t0002g0127 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130	6	328	0.0183	-21	c.285 others(38): Show c.285+9473_285+9493delCTTATGTATATAAATATATAT		PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3						chr5	TogoVar
PFKM_chr12_48114364_48151404	48129210	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp2 NA18947.hp2 others(9): Show NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18998.hp1 NA19000.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0093	12	58	0.2069	-21	c.86- others(36): Show c.86-1140_86-1120delTTTTTTTTTTTTTTTTTTTTT		PFKM	ENSG00000152556.17	transcript	ENST00000359794.11	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM1_chr10_97421191_97438444	97425926	GCCGCCCT others(14): Show GCCGCCCTCCGCCCTCCGCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02155.hp1 HG02683.hp1 others(4): Show HG01943.hp2 HG02155.hp1 HG02683.hp1 NA18985.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0081	7	209	0.0335	-21	c.-38 others(30): Show c.-381_-361delCCGCCCTCCGCCCTCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					264		chr10	TogoVar
PGBD5_chr1_230309490_230431332	230396213	TCACATTC others(14): Show TCACATTCCTCCTTTTTACCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01261.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp2 NA18974.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0026 a0001c0001t0100 others(2): Show a0001c0001t0018 a0001c0001t0026 a0001c0001t0100 a0001c0001t0103 a0001c0002t0003	a0001c0001t0018g0258 a0001c0001t0026g0243 a0001c0001t0100g0253 others(3): Show a0001c0001t0018g0258 a0001c0001t0026g0243 a0001c0001t0100g0253 a0001c0001t0103g0266 a0001c0002t0003g0003 a0001c0002t0003g0244	7	279	0.0251	-21	c.331 others(40): Show c.331+29364_331+29384delGGGGTAAAAAGGAGGAATGTG		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230396225	TTTTTACC others(14): Show TTTTTACCCCCACACTCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02004.hp2 others(17): Show HG00423.hp1 HG00597.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18964.hp1 NA18972.hp1 NA18975.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0043 a0001c0001t0046 a0001c0001t0054 a0001c0001t0070 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016	a0001c0001t0002g0112 a0001c0001t0002g0124 a0001c0001t0002g0224 others(17): Show a0001c0001t0002g0112 a0001c0001t0002g0124 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0004g0198 a0001c0001t0018g0254 a0001c0001t0043g0062 a0001c0001t0046g0267 a0001c0001t0054g0085 a0001c0001t0070g0181 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0127 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0003g0247 a0001c0002t0003g0264 a0001c0002t0003g0271 a0001c0002t0003g0281 a0001c0002t0016g0065	20	282	0.0709	-21	c.331 others(40): Show c.331+29352_331+29372delGGGAGGAGTGTGGGGGTAAAA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230396246	CTTTTACC others(14): Show CTTTTACCCCCACACTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 NA20905.hp1 HG02559.hp1 HG02886.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0058 a0001c0002t0036 a0001c0001t0007 a0001c0001t0058 a0001c0002t0036	a0001c0001t0007g0018 a0001c0001t0058g0144 a0001c0002t0036g0177 a0001c0001t0007g0018 a0001c0001t0058g0144 a0001c0002t0036g0177	3	286	0.0105	-21	c.331 others(40): Show c.331+29331_331+29351delAGGAGGAGTGTGGGGGTAAAA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230396263	CTCCTTTT others(14): Show CTCCTTTTTACCCCCACACTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01069.hp1 others(27): Show HG00099.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01261.hp1 HG01515.hp2 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02698.hp2 HG02809.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04184.hp1 HG06807.hp1 NA18974.hp1 NA19056.hp2 NA19090.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0001t0026 a0001c0001t0031 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0001t0060 a0001c0001t0066 a0001c0001t0079 a0001c0001t0095 a0001c0001t0100 a0001c0001t0103 a0001c0001t0104 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0002t0098	a0001c0001t0002g0010 a0001c0001t0002g0128 a0001c0001t0002g0164 others(26): Show a0001c0001t0002g0010 a0001c0001t0002g0128 a0001c0001t0002g0164 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0006g0227 a0001c0001t0014g0072 a0001c0001t0018g0258 a0001c0001t0026g0243 a0001c0001t0031g0228 a0001c0001t0040g0221 a0001c0001t0041g0028 a0001c0001t0041g0130 a0001c0001t0048g0005 a0001c0001t0060g0026 a0001c0001t0066g0150 a0001c0001t0079g0222 a0001c0001t0095g0025 a0001c0001t0100g0253 a0001c0001t0103g0266 a0001c0001t0104g0276 a0001c0002t0001g0059 a0001c0002t0001g0152 a0001c0002t0001g0219 a0001c0002t0003g0003 a0001c0002t0016g0193 a0001c0002t0098g0111	30	257	0.1167	-21	c.331 others(40): Show c.331+29314_331+29334delAGAGTGTGGGGGTAAAAAGGA		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PGBD5_chr1_230309490_230431332	230425752	GGAGGCGG others(14): Show GGAGGCGGCCGAGGAGGAGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0007 a0004c0009t0002g0007	1	286	0.0035	-21	c.156 others(28): Show c.156_176delGCGCTCCTCCTCGGCCGCCTC	p.Arg others(11): Show p.Arg53_Ser59del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/7	580/10914	156/1575	52/524			chr1	TogoVar
PGGHG_chr11_284126_301107	286801	AGGAGTTC others(14): Show AGGAGTTCGAGATCATCCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0003 a0002c0003t0024g0003	1	447	0.0022	-21	c.-24 others(32): Show c.-2451_-2431delGGAGTTCGAGATCATCCTGGC		PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding					2324		chr11	TogoVar
PGLYRP2_chr19_15463645_15484501	15467837	TTTTCCTT others(14): Show TTTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	377	0.0027	-21	c.80 others(30): Show c.805_*825delGGAAGGAAGGAAGGAAGGAAA		PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding					807		chr19	TogoVar

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