Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PPM1H_chr12_62638994_62940150	62659269	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	252	0.0040	15	c.139 others(34): Show c.1397+7894_1397+7908dupTTTTTTTTTTTTTTT	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	9/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 NA19079.hp1 HG00438.hp1 HG02080.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 a0001c0001t0001 a0001c0001t0002 a0001c0001t0052	a0001c0001t0001g0073 a0001c0001t0002g0124 a0001c0001t0052g0098 a0001c0001t0001g0073 a0001c0001t0002g0124 a0001c0001t0052g0098	3	252	0.0119	15	c.124 others(34): Show c.1246-6401_1246-6387dupAAAAAAAAAAAAAAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62702581	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	252	0.0040	15	c.107 others(34): Show c.1074-8583_1074-8582insCTCTCTCTCTCTCTC	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	6/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62727637	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02809.hp2 others(2): Show HG01167.hp2 HG01169.hp1 HG02809.hp2 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0034 a0001c0001t0004g0037 a0001c0001t0005g0105 others(2): Show a0001c0001t0002g0034 a0001c0001t0004g0037 a0001c0001t0005g0105 a0001c0001t0009g0023 a0001c0001t0009g0029	5	252	0.0198	15	c.955 others(32): Show c.955-7363_955-7349dupATAATAATAATAATA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	5/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62773149	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0236 a0001c0002t0010g0236	1	252	0.0040	15	c.869 others(34): Show c.869+15062_869+15076dupGTTTTGTTTTGTTTT	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	4/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62793740	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp1 NA19030.hp2 HG02615.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0055 a0001c0002t0003 a0001c0001t0002 a0001c0001t0055 a0001c0002t0003	a0001c0001t0002g0103 a0001c0001t0055g0240 a0001c0002t0003g0061 a0001c0001t0002g0103 a0001c0001t0055g0240 a0001c0002t0003g0061	3	252	0.0119	15	c.757 others(32): Show c.757-5417_757-5403dupTTTTTTTTTTTTTTT	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	3/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62839884	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0246 a0001c0002t0024g0246	1	252	0.0040	15	c.246 others(32): Show c.246-7606_246-7605insGTTTTTTTTTTTTTT	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62932628	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0061	1	252	0.0040	15	c.245 others(32): Show c.245+1849_245+1863dupAAAAAAAAAAAAAAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160755989	A A	AGCGGCTG others(8): Show AGCGGCTGCTGCTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA19056.hp2 NA19077.hp1 others(1): Show NA18986.hp1 NA19056.hp2 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0048 others(1): Show a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0048 a0001c0001t0004g0066	4	206	0.0194	15	c.-32 others(24): Show c.-320_-319insGCGGCTGCTGCTGCG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding		241		chr3	TogoVar
PPM1L_chr3_160751231_161083902	160786207	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	206	0.0049	15	c.399 others(34): Show c.399+29501_399+29502insATATATATATTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160835039	A A	ACTTCTTC others(8): Show ACTTCTTCTTCCTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 HG02280.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0018g0113 a0001c0001t0001g0002 a0001c0001t0018g0113	2	206	0.0097	15	c.399 others(34): Show c.399+78342_399+78343insCTCTTCTTCTTCTTC	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160835039	A A	ACTTCTTC others(8): Show ACTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01257.hp2 others(17): Show HG00639.hp2 HG00733.hp1 HG01257.hp2 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG03139.hp2 HG03490.hp1 HG03540.hp2 HG03834.hp1 NA18906.hp1 NA18941.hp2 NA18959.hp2 NA18982.hp1 NA18983.hp2 NA19009.hp1 NA19058.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018	a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0078 others(17): Show a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0157 a0001c0001t0002g0132 a0001c0001t0002g0200 a0001c0001t0003g0011 a0001c0001t0003g0177 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0006g0184 a0001c0001t0007g0166 a0001c0001t0008g0127 a0001c0001t0010g0009 a0001c0001t0011g0027 a0001c0001t0011g0206 a0001c0001t0018g0194	20	206	0.0971	15	c.399 others(34): Show c.399+78366_399+78380dupCTTCTTCTTCTTCTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160906629	A A	AAGAAAAG others(8): Show AAGAAAAGAAAAGAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG02886.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0135 a0001c0001t0010g0151 a0001c0001t0001g0135 a0001c0001t0010g0151	2	206	0.0097	15	c.400 others(34): Show c.400-55103_400-55102insAAGAAAAGAACAGAA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160944877	A A	ATAATATA others(8): Show ATAATATATAGTGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG01243.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0125 a0001c0001t0022g0117 a0001c0001t0003g0125 a0001c0001t0022g0117	2	206	0.0097	15	c.400 others(34): Show c.400-16859_400-16858insTAATATATAGTGGAG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3			chr3	TogoVar
PPM1L_chr3_160751231_161083902	160945039	C C	CATGTTAT others(8): Show CATGTTATATATAACT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01261.hp2 others(21): Show HG01081.hp1 HG01109.hp2 HG01261.hp2 HG01433.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp2 HG02886.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA18956.hp1 NA18959.hp2 NA18973.hp2 NA18983.hp2 NA19009.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0034 a0001c0001t0042	a0001c0001t0001g0124 a0001c0001t0002g0012 a0001c0001t0002g0018 others(21): Show a0001c0001t0001g0124 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0103 a0001c0001t0002g0165 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0047 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0111 a0001c0001t0010g0009 a0001c0001t0010g0023 a0001c0001t0010g0068 a0001c0001t0010g0151 a0001c0001t0018g0113 a0001c0001t0018g0194 a0001c0001t0034g0150 a0001c0001t0042g0128	24	206	0.1165	15	c.400 others(34): Show c.400-16695_400-16694insGTTATATATAACTAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160970787	A A	ATTCTTTT others(8): Show ATTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	206	0.0049	15	c.574 others(32): Show c.574+8879_574+8880insCTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160973764	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	206	0.0049	15	c.574 others(34): Show c.574+11869_574+11883dupTTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160989977	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02723.hp2 HG02818.hp1 others(3): Show HG01433.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0033 a0001c0001t0038	a0001c0001t0001g0007 a0001c0001t0003g0036 a0001c0001t0008g0008 others(3): Show a0001c0001t0001g0007 a0001c0001t0003g0036 a0001c0001t0008g0008 a0001c0001t0008g0061 a0001c0001t0033g0022 a0001c0001t0038g0123	6	206	0.0291	15	c.574 others(34): Show c.574+28087_574+28101dupGTTTTGTTTTGTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	161031502	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02630.hp1 others(2): Show HG02109.hp1 HG02109.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0031 others(1): Show a0001c0001t0009 a0001c0001t0024 a0001c0001t0031 a0001c0001t0039	a0001c0001t0009g0001 a0001c0001t0009g0025 a0001c0001t0024g0118 others(2): Show a0001c0001t0009g0001 a0001c0001t0009g0025 a0001c0001t0024g0118 a0001c0001t0031g0058 a0001c0001t0039g0033	5	206	0.0243	15	c.575 others(34): Show c.575-33899_575-33885dupTTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	161058118	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	206	0.0049	15	c.575 others(32): Show c.575-7275_575-7261dupTTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1N_chr19_45493443_45507513	45496962	A A	AGCCGCCG others(8): Show AGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02109.hp1 HG00280.hp2 HG02109.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0001 a0003c0012t0004 a0001c0001t0001 a0003c0012t0004	a0001c0001t0001g0003 a0003c0012t0004g0003 a0001c0001t0001g0003 a0003c0012t0004g0003	2	436	0.0046	15	c.-15 others(26): Show c.-1511_-1510insGCCGCCGCCGCCGCC	PPM1N	ENSG00000213889.11	transcript	ENST00000451287.7	protein_coding		1480		chr19	TogoVar
PPME1_chr11_74166289_74259703	74237275	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18984.hp2 NA19003.hp2 NA18977.hp2 NA18984.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030	3	370	0.0081	15	c.710 others(32): Show c.710+1313_710+1327dupTTTTTTTTTTTTTTT	PPME1	ENSG00000214517.10	transcript	ENST00000328257.13	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1CB_chr2_28746830_28807940	28785065	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02897.hp2 HG02970.hp2 HG02572.hp1 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0039 a0001c0002t0002g0142 a0001c0002t0008g0025 a0001c0002t0002g0039 a0001c0002t0002g0142 a0001c0002t0008g0025	3	366	0.0082	15	c.592 others(32): Show c.592+1101_592+1115dupTTTTTTTTTTTTTTT	PPP1CB	ENSG00000213639.11	transcript	ENST00000395366.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1CC_chr12_110714680_110747891	110737477	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	338	0.0030	15	c.55+ others(30): Show c.55+5161_55+5175dupTTTTTTTTTTTTTTT	PPP1CC	ENSG00000186298.12	transcript	ENST00000335007.10	protein_coding	1/6			chr12	TogoVar
PPP1R12A_chr12_79768568_79940097	79801345	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0131 a0007c0009t0003g0131	1	312	0.0032	15	c.200 others(34): Show c.2001-2776_2001-2762dupTTTTTTTTTTTTTTT	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	14/24			chr12	TogoVar
PPP1R12A_chr12_79768568_79940097	79939759	A A	AACTGATT others(8): Show AACTGATTCAGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	312	0.0032	15	c.-48 others(26): Show c.-4829_-4828insGCCTTCTGAATCAGT	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding		4663		chr12	TogoVar
PPP1R13B_chr14_103728195_103852575	103765986	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02004.hp1 HG02723.hp1 HG00673.hp2 HG02004.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0253 a0001c0001t0003g0004 a0001c0001t0004g0280 a0001c0001t0002g0253 a0001c0001t0003g0004 a0001c0001t0004g0280	3	332	0.0090	15	c.355 others(32): Show c.355-8250_355-8236dupTAATAATAATAATAA	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16			chr14	TogoVar
PPP1R13L_chr19_45374638_45410069	45375534	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA19065.hp1 NA19084.hp1 others(1): Show HG00621.hp2 NA19065.hp1 NA19084.hp1 NA19091.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0012 a0001c0001 a0017c0012	a0001c0001t0002 a0017c0012t0002 a0001c0001t0002 a0017c0012t0002	a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 others(1): Show a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0017c0012t0002g0351	4	376	0.0106	15	c.46 others(26): Show c.4655_*4656insAAATAAAATAAAATA	PPP1R13L	ENSG00000104881.16	transcript	ENST00000360957.10	protein_coding		4103		chr19	TogoVar
PPP1R14A_chr19_38246237_38261374	38249039	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	426	0.0024	15	c.22 others(26): Show c.2264_*2278dupATTTTATTTTATTTT	PPP1R14A	ENSG00000167641.11	transcript	ENST00000301242.9	protein_coding		2197		chr19	TogoVar
PPP1R14A_chr19_38246237_38261374	38253416	C C	CAGGGGAC others(8): Show CAGGGGACAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20805.hp1 HG03130.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0063 a0001c0002t0001g0041 a0001c0001t0001g0063 a0001c0002t0001g0041	2	426	0.0047	15	c.202 others(30): Show c.202-457_202-443dupCCCTTCCTGTCCCCT	PPP1R14A	ENSG00000167641.11	transcript	ENST00000301242.9	protein_coding	1/3			chr19	TogoVar
PPP1R14A_chr19_38246237_38261374	38259640	T T	TATATATA others(8): Show TATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	426	0.0024	15	c.-33 others(26): Show c.-3302_-3301insTATATATATATATAT	PPP1R14A	ENSG00000167641.11	transcript	ENST00000301242.9	protein_coding		3267		chr19	TogoVar
PPP1R14C_chr6_150138044_150255392	150168533	C C	CAACAAAA others(8): Show CAACAAAACAAAACAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01069.hp2 others(30): Show HG00099.hp1 HG00609.hp1 HG01069.hp2 HG01071.hp2 HG01243.hp2 HG01361.hp2 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18968.hp2 NA18974.hp2 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA19063.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0002c0002t0004 a0002c0002t0009	a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0118 others(30): Show a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0152 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0003g0005 a0001c0001t0003g0018 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0296 a0001c0001t0004g0117 a0001c0001t0004g0120 a0001c0001t0006g0003 a0001c0001t0007g0008 a0001c0001t0020g0107 a0001c0001t0021g0232 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0009g0247	33	312	0.1058	15	c.306 others(34): Show c.306+25053_306+25067dupCAAAACAAAACAAAA	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAAGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	244	0.0041	15	c.250 others(34): Show c.250+19807_250+19808insGAGAGAGAGAGAAGG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38898811	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03453.hp2 HG06807.hp1 others(1): Show HG01081.hp1 HG03453.hp2 HG06807.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0016 a0001c0002t0002 a0001c0002t0015 a0001c0002t0016	a0001c0002t0002g0048 a0001c0002t0002g0086 a0001c0002t0015g0063 others(1): Show a0001c0002t0002g0048 a0001c0002t0002g0086 a0001c0002t0015g0063 a0001c0002t0016g0195	4	244	0.0164	15	c.468 others(32): Show c.468-1749_468-1735dupCAACAACAACAACAA	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R17_chr7_31682215_31713455	31705986	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02257.hp2 HG03471.hp1 others(1): Show HG01169.hp1 HG02257.hp2 HG03471.hp1 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0132 a0002c0003t0002g0224 a0002c0003t0002g0055 a0002c0003t0002g0132 a0002c0003t0002g0224	4	442	0.0091	15	c.389 others(32): Show c.389-1196_389-1182dupTTTTTTTTTTTTTTT	PPP1R17	ENSG00000106341.11	transcript	ENST00000342032.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R1C_chr2_181980853_182122756	182075755	T T	TACACTAG others(8): Show TACACTAGATCGCGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	344	0.0029	15	c.241 others(34): Show c.241+11964_241+11965insACACTAGATCGCGTG	PPP1R1C	ENSG00000150722.11	transcript	ENST00000682840.1	protein_coding	4/4			chr2	TogoVar
PPP1R1C_chr2_181980853_182122756	182120328	G G	GAGACACA others(8): Show GAGACACAAAAAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	344	0.0029	15	c.30 others(26): Show c.3033_*3034insAGACACAAAAAACCC	PPP1R1C	ENSG00000150722.11	transcript	ENST00000682840.1	protein_coding		2573		chr2	TogoVar
PPP1R21_chr2_48435766_48520386	48515216	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 NA18968.hp1 NA19078.hp1 HG02572.hp2 NA18968.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0093 a0001c0001t0025g0161 a0001c0001t0025g0184 a0001c0001t0025g0093 a0001c0001t0025g0161 a0001c0001t0025g0184	3	372	0.0081	15	c.47 others(24): Show c.472_*473insCTCTCTCTCTCTCTC	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	22/22	473		chr2	TogoVar
PPP1R2B_chr5_156845295_156857528	156857096	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	430	0.0023	15	c.59 others(26): Show c.5916_*5917insTTTTTTTTTTTTTTT	PPP1R2B	ENSG00000231989.5	transcript	ENST00000522232.3	protein_coding		4569		chr5	TogoVar
PPP1R2_chr3_195509428_195548325	195537520	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	388	0.0026	15	c.122 others(32): Show c.122+5383_122+5384insCACACACACACACAC	PPP1R2	ENSG00000184203.8	transcript	ENST00000618156.5	protein_coding	1/5			chr3	TogoVar
PPP1R3G_chr6_5080341_5094487	5090039	C C	CACACACA others(8): Show CACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	414	0.0024	15	c.34 others(26): Show c.3477_*3478insACACACACACACACA	PPP1R3G	ENSG00000219607.4	transcript	ENST00000405617.4	protein_coding		553		chr6	TogoVar
PPP1R9A_chr7_94902594_95301400	95103362	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01074.hp2 others(23): Show HG00280.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG02071.hp2 HG02155.hp1 HG02258.hp1 HG03453.hp1 HG03453.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp2 NA18522.hp2 NA18944.hp2 NA18972.hp1 NA19043.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011	a0001c0002 a0002c0001 a0003c0003 others(6): Show a0001c0002 a0002c0001 a0003c0003 a0004c0005 a0004c0012 a0005c0006 a0006c0007 a0009c0014 a0011c0018	a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 others(15): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0015 a0001c0002t0021 a0001c0002t0040 a0002c0001t0004 a0003c0003t0005 a0003c0003t0006 a0004c0005t0003 a0004c0005t0005 a0004c0012t0002 a0005c0006t0004 a0006c0007t0004 a0009c0014t0003 a0009c0014t0004 a0011c0018t0005 a0011c0018t0032	a0001c0002t0003g0124 a0001c0002t0003g0127 a0001c0002t0005g0125 others(23): Show a0001c0002t0003g0124 a0001c0002t0003g0127 a0001c0002t0005g0125 a0001c0002t0005g0126 a0001c0002t0005g0136 a0001c0002t0009g0135 a0001c0002t0015g0223 a0001c0002t0021g0134 a0001c0002t0040g0220 a0002c0001t0004g0092 a0003c0003t0005g0091 a0003c0003t0006g0117 a0004c0005t0003g0178 a0004c0005t0003g0179 a0004c0005t0003g0183 a0004c0005t0003g0184 a0004c0005t0003g0232 a0004c0005t0005g0167 a0004c0012t0002g0169 a0005c0006t0004g0170 a0006c0007t0004g0177 a0009c0014t0003g0145 a0009c0014t0004g0142 a0009c0014t0004g0143 a0011c0018t0005g0146 a0011c0018t0032g0141	26	290	0.0897	15	c.139 others(34): Show c.1396-7893_1396-7879dupTTTTTTTTTTTTTTT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95137415	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG02145.hp1 HG03579.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0016 a0003c0003 a0010c0016	a0003c0003t0006 a0010c0016t0008 a0003c0003t0006 a0010c0016t0008	a0003c0003t0006g0197 a0010c0016t0008g0162 a0003c0003t0006g0197 a0010c0016t0008g0162	2	290	0.0069	15	c.164 others(36): Show c.1649+16592_1649+16606dupAAAAAAAAAAAAAAA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2CA_chr5_134189332_134231073	134220456	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	364	0.0028	15	c.102 others(32): Show c.102+5289_102+5303dupTTTTTTTTTTTTTTT	PPP2CA	ENSG00000113575.12	transcript	ENST00000481195.6	protein_coding	1/6			chr5	TogoVar
PPP2CB_chr8_30780616_30817818	30784662	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	304	0.0033	15	c.15 others(26): Show c.1572_*1573insATATTTTTTTTTTTT	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding		953		chr8	TogoVar
PPP2R1A_chr19_52185052_52234518	52194088	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01106.hp2 others(2): Show HG00733.hp1 HG01069.hp1 HG01106.hp2 HG03688.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0284 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0284	5	384	0.0130	15	c.78+ others(30): Show c.78+3924_78+3938dupAAAAAAAAAAAAAAA	PPP2R1A	ENSG00000105568.19	transcript	ENST00000322088.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP2R1B_chr11_111732877_111771389	111751765	G G	GCGGGTGA others(8): Show GCGGGTGAATTCCTGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	358	0.0028	15	c.133 others(32): Show c.1338+393_1338+394insTCAGGAATTCACCCG	PPP2R1B	ENSG00000137713.16	transcript	ENST00000527614.6	protein_coding	10/14			chr11	TogoVar
PPP2R2B_chr5_146575742_146883757	146878727	A A	AGCTGCTG others(8): Show AGCTGCTGCTGCTGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG01109.hp1 others(12): Show HG00408.hp2 HG00741.hp1 HG01109.hp1 HG01891.hp2 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03927.hp2 NA19063.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0040 others(7): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047	a0001c0001t0007g0030 a0001c0001t0007g0032 a0001c0001t0007g0035 others(12): Show a0001c0001t0007g0030 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0010g0026 a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0040g0037 a0001c0001t0041g0038 a0001c0001t0042g0039 a0001c0001t0043g0040 a0001c0001t0044g0031 a0001c0001t0045g0029 a0001c0001t0046g0033 a0001c0001t0047g0034	15	170	0.0882	15	c.-27 others(24): Show c.-276_-262dupAGCAGCAGCAGCAGC	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	1/10	657		chr5	TogoVar
PPP2R2D_chr10_131896008_131964834	131901020	C C	CCGGCGGC others(8): Show CCGGCGGCGGCGGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp2 NA18944.hp2 NA18962.hp2 others(2): Show HG00544.hp2 NA18944.hp2 NA18962.hp2 NA19004.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0095 a0001c0001t0016 a0001c0001t0095	a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 others(1): Show a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0095g0114	5	394	0.0127	15	c.-11 others(24): Show c.-117_-103dupGCGGCGGCGGCGGCG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	1/9	102	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131932646	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01952.hp2 HG02083.hp2 others(5): Show HG01070.hp2 HG01952.hp2 HG02083.hp2 HG02922.hp2 NA18992.hp1 NA19009.hp2 NA19066.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0048 a0001c0001t0007 a0001c0001t0048	a0001c0001t0007g0005 a0001c0001t0007g0180 a0001c0001t0007g0181 others(3): Show a0001c0001t0007g0005 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0048g0182	8	394	0.0203	15	c.101 others(32): Show c.101-1804_101-1790dupAAAAAAAAAAAAAAA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar

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