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	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
PPFIA2_chr12_81252975_81764350	81415207	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	168	0.0060	-15	c.646 others(32): Show c.646-9319_646-9305delATATATATATATTTT		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32						chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81637236	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	168	0.0060	-15	c.303 others(34): Show c.303+39540_303+39554delAAAAAAAAAAAAAAA		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49154453	ACATCATC others(8): Show ACATCATCATCATCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG03195.hp2 others(5): Show HG02451.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056	8	362	0.0221	-15	c.42 others(26): Show c.4232_*4246delCATCATCATCATCAT		PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding					3428		chr19	TogoVar
PPFIA4_chr1_203021491_203083736	203078752	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0014 a0002c0004t0005g0014	1	418	0.0024	-15	c.23 others(26): Show c.2363_*2377delTTTTTTTTTTTTTTT		PPFIA4	ENSG00000143847.16	transcript	ENST00000295706.9	protein_coding					17		chr1	TogoVar
PPFIBP1_chr12_27519206_27700564	27612926	ACATCATC others(8): Show ACATCATCATCATCAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01261.hp1 others(6): Show HG01168.hp2 HG01169.hp2 HG01261.hp1 HG02615.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0021 a0005c0007 a0001c0001 a0001c0021 a0005c0007	a0001c0001t0005 a0001c0001t0006 a0001c0021t0010 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0021t0010 a0005c0007t0002	a0001c0001t0005g0179 a0001c0001t0006g0087 a0001c0001t0006g0147 others(6): Show a0001c0001t0005g0179 a0001c0001t0006g0087 a0001c0001t0006g0147 a0001c0001t0006g0156 a0001c0001t0006g0160 a0001c0001t0006g0165 a0001c0021t0010g0013 a0005c0007t0002g0205 a0005c0007t0002g0249	9	314	0.0287	-15	c.-35 others(34): Show c.-35-20398_-35-20384delATCATCATCATCATC		PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27670782	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0124 a0001c0001t0020g0124	1	314	0.0032	-15	c.114 others(32): Show c.1147-646_1147-632delAAAAAAAAAAAATAA		PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP2_chr11_7508999_7658756	7606886	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03834.hp2 NA18968.hp2 others(2): Show HG01891.hp1 HG03834.hp2 NA18968.hp2 NA18970.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0007 a0001c0001t0001 a0001c0004t0001 a0002c0003t0007	a0001c0001t0001g0156 a0001c0004t0001g0085 a0001c0004t0001g0086 others(2): Show a0001c0001t0001g0156 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0002c0003t0007g0054	5	318	0.0157	-15	c.487 others(32): Show c.487-3377_487-3363delTTTTTTTTTTTTTTT		PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7645026	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp2 others(11): Show HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01346.hp2 HG02293.hp2 HG02451.hp2 HG02572.hp1 HG02895.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0004t0005 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0005 a0001c0018t0001 a0002c0003t0004 a0004c0008t0005 a0004c0008t0008 a0004c0008t0013	a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0002t0001g0080 others(11): Show a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0002t0001g0080 a0001c0002t0001g0097 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0230 a0001c0004t0005g0207 a0001c0018t0001g0206 a0002c0003t0004g0179 a0004c0008t0005g0208 a0004c0008t0005g0215 a0004c0008t0008g0187 a0004c0008t0013g0292	14	318	0.0440	-15	c.164 others(34): Show c.1646+2619_1646+2633delAAAAAAAAAAAAAAA		PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPHLN1_chr12_42321167_42447181	42383983	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00738.hp2 others(40): Show HG00544.hp2 HG00597.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01192.hp2 HG01515.hp1 HG01975.hp2 HG01978.hp1 HG02129.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03486.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18973.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19058.hp2 NA19079.hp1 NA19086.hp1 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(40): Show a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0133 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0233 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220	43	376	0.1144	-15	c.512 others(30): Show c.512-943_512-929delAAAAAAAAAAAAAAA		PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42396615	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG02055.hp2 others(11): Show HG00544.hp2 HG00597.hp1 HG02055.hp2 HG02129.hp1 HG03831.hp2 NA18940.hp2 NA18966.hp2 NA18973.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp1 NA19058.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0308 a0001c0001t0002g0204 a0001c0001t0002g0205 others(11): Show a0001c0001t0001g0308 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220	14	376	0.0372	-15	c.769 others(32): Show c.769-2220_769-2206delAAAAAAAAAAAAAAA		PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42426213	CACACACA others(8): Show CACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	376	0.0027	-15	c.910 others(34): Show c.910-15101_910-15087delACACACACACACACA		PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	9/9						chr12	TogoVar
PPIAL4H_chr1_146339006_146349765	146345075	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-15	c.-37 others(24): Show c.-375_-361delGAAAGAAAGAAAGAA		PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding					311		chr1	TogoVar
PPIAL4H_chr1_146339006_146349765	146346475	ATCTTTTC others(8): Show ATCTTTTCTTTTCTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02897.hp2 HG02970.hp2 others(1): Show HG02145.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0000 a0003c0005t0004g0000	4	416	0.0096	-15	c.-17 others(26): Show c.-1775_-1761delAAAGAAAAGAAAAGA		PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding					1711		chr1	TogoVar
PPIF_chr10_79342469_79360334	79348620	AGCTTCGA others(8): Show AGCTTCGAGGGTAGAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03540.hp2 HG02717.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	3	408	0.0074	-15	c.196 others(30): Show c.196-452_196-438delTCGAGGGTAGAGGCT		PPIF	ENSG00000108179.14	transcript	ENST00000225174.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPIF_chr10_79342469_79360334	79358076	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	-15	c.42 others(26): Show c.4235_*4249delAAAAAAAAAAAAAAA		PPIF	ENSG00000108179.14	transcript	ENST00000225174.8	protein_coding					2743		chr10	TogoVar
PPIL1_chr6_36849829_36879803	36862350	CCAGCCTC others(8): Show CCAGCCTCCTCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG03688.hp1 others(3): Show HG02572.hp1 HG03041.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 others(3): Show a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0006g0052 a0001c0001t0008g0055	6	410	0.0146	-15	c.212 others(32): Show c.212-5711_212-5697delTGGAGGAGGAGGCTG		PPIL1	ENSG00000137168.8	transcript	ENST00000373699.6	protein_coding	2/3						chr6	TogoVar
PPIL2_chr22_21661012_21702907	21663189	GTAATAAT others(8): Show GTAATAATAATAATAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	378	0.0027	-15	c.-29 others(26): Show c.-2910_-2896delTAATAATAATAATAA		PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding					2822		chr22	TogoVar
PPIL4_chr6_149499495_149551043	149506531	TATTTTAT others(8): Show TATTTTATAACAGCTC	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	306	0.0033	-15	c.122 others(32): Show c.1228-842_1228-828delGAGCTGTTATAAAAT		PPIL4	ENSG00000131013.4	transcript	ENST00000253329.3	protein_coding	12/12						chr6	TogoVar
PPIL6_chr6_109385215_109445628	109437757	GTTGGCCA others(8): Show GTTGGCCAGGCTGGTC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	396	0.0025	-15	c.136 others(32): Show c.136-1573_136-1559delGACCAGCCTGGCCAA		PPIL6	ENSG00000185250.16	transcript	ENST00000521072.7	protein_coding	1/7						chr6	TogoVar
PPL_chr16_4877507_4942148	4913818	TGAGTGGC others(8): Show TGAGTGGCTAGGCACG	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	372	0.0027	-15	c.63- others(30): Show c.63-2884_63-2870delCGTGCCTAGCCACTC		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21						chr16	TogoVar
PPL_chr16_4877507_4942148	4929012	TTAAAAAA others(8): Show TTAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0326 a0001c0001t0009g0326	1	372	0.0027	-15	c.62+ others(30): Show c.62+7957_62+7971delTTTTTTTTTTTTTTA		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21						chr16	TogoVar
PPL_chr16_4877507_4942148	4938418	TTTCTTGC others(8): Show TTTCTTGCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0006 a0010c0019t0006	a0010c0019t0006g0347 a0010c0019t0006g0347	1	372	0.0027	-15	c.-13 others(26): Show c.-1388_-1374delGAAAGAAAGCAAGAA		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding					1271		chr16	TogoVar
PPM1B_chr2_44163875_44236472	44192190	GGTATTGT others(8): Show GGTATTGTATTGTATT	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	358	0.0028	-15	c.-14 others(32): Show c.-14-8964_-14-8950delTATTGTATTGTATTG		PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1E_chr17_58750854_58990179	58816775	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	312	0.0032	-15	c.464 others(34): Show c.464+60315_464+60329delATATATATATATATA		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6						chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816782	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18952.hp1 HG01943.hp2 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0058 a0002c0002t0001g0043 a0002c0002t0001g0058	2	312	0.0064	-15	c.464 others(34): Show c.464+60323_464+60337delATATATATATATTTT		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816786	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	312	0.0032	-15	c.464 others(34): Show c.464+60327_464+60341delATATATATTTTTTTT		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58866589	CTCATTGT others(8): Show CTCATTGTAAATGCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00735.hp1 others(45): Show HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18980.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0003c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0008t0005 a0002c0002t0001 a0003c0003t0005 a0003c0007t0023 a0007c0006t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(45): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0306 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0215 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0009g0149 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0010g0119 a0001c0001t0011g0221 a0001c0001t0011g0226 a0001c0001t0011g0232 a0001c0008t0005g0214 a0002c0002t0001g0081 a0003c0003t0005g0217 a0003c0003t0005g0299 a0003c0007t0023g0216 a0007c0006t0001g0300	48	312	0.1539	-15	c.465 others(34): Show c.465-89041_465-89027delTTGTAAATGCTGTCA		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58909918	CTTTTTCT others(8): Show CTTTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	312	0.0032	-15	c.465 others(34): Show c.465-45725_465-45711delCTTTTTTTTTTTTTT		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1G_chr2_27376199_27414591	27392281	GTTTTGTT others(8): Show GTTTTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp2 others(2): Show HG01891.hp2 HG02109.hp1 HG02622.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188	5	260	0.0192	-15	c.121 others(32): Show c.121-5138_121-5124delAAAAAAAAAACAAAA		PPM1G	ENSG00000115241.11	transcript	ENST00000344034.5	protein_coding	1/9						chr2	TogoVar
PPM1H_chr12_62638994_62940150	62683033	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01099.hp1 others(16): Show HG00099.hp1 HG00323.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG02074.hp2 HG02451.hp1 HG02717.hp2 HG02965.hp2 HG03225.hp2 HG03579.hp1 NA18962.hp1 NA18971.hp1 NA19009.hp2 NA19043.hp2 NA19079.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0002t0001 a0001c0002t0024	a0001c0001t0001g0180 a0001c0001t0002g0076 a0001c0001t0002g0135 others(16): Show a0001c0001t0001g0180 a0001c0001t0002g0076 a0001c0001t0002g0135 a0001c0001t0004g0172 a0001c0001t0006g0183 a0001c0001t0009g0023 a0001c0001t0009g0029 a0001c0001t0012g0184 a0001c0001t0013g0199 a0001c0001t0016g0214 a0001c0001t0017g0027 a0001c0001t0032g0003 a0001c0001t0035g0022 a0001c0001t0038g0017 a0001c0001t0041g0005 a0001c0001t0042g0079 a0001c0001t0048g0156 a0001c0002t0001g0053 a0001c0002t0024g0246	19	252	0.0754	-15	c.124 others(34): Show c.1245+6651_1245+6665delTAATAATAATAATAA		PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9						chr12	TogoVar
PPM1J_chr1_112704998_112720332	112706493	CACACACA others(8): Show CACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA19030.hp1 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	422	0.0047	-15	c.36 others(26): Show c.3655_*3669delTGTGTGTGTGTGTGT		PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding					3504		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112714009	CTCTCCCA others(8): Show CTCTCCCAGTGCCTTG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	422	0.0024	-15	c.327 others(30): Show c.327-413_327-399delCAAGGCACTGGGAGA		PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding	1/9						chr1	TogoVar
PPM1L_chr3_160751231_161083902	160954933	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0108 a0001c0001t0017g0108	1	206	0.0049	-15	c.400 others(32): Show c.400-6801_400-6787delCCTTCCTTCCTTCCT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160954941	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	206	0.0049	-15	c.400 others(32): Show c.400-6793_400-6779delCCTTCCTTCCTTCCT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160973764	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01243.hp1 others(28): Show HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18956.hp1 NA18959.hp2 NA18973.hp2 NA18983.hp2 NA19009.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044	a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0002g0012 others(28): Show a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0103 a0001c0001t0002g0165 a0001c0001t0003g0125 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0047 a0001c0001t0005g0091 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0111 a0001c0001t0010g0009 a0001c0001t0010g0023 a0001c0001t0010g0068 a0001c0001t0010g0151 a0001c0001t0016g0114 a0001c0001t0016g0196 a0001c0001t0018g0113 a0001c0001t0018g0194 a0001c0001t0034g0150 a0001c0001t0035g0031 a0001c0001t0042g0128 a0001c0001t0044g0197	31	206	0.1505	-15	c.574 others(34): Show c.574+11869_574+11883delTTTTTTTTTTTTTTT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1M_chr3_52240759_52255599	52242960	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	380	0.0026	-15	c.-28 others(26): Show c.-2864_-2850delAAAAAAAAAAAAAAA		PPM1M	ENSG00000164088.18	transcript	ENST00000323588.9	protein_coding					2798		chr3	TogoVar
PPP1CC_chr12_110714680_110747891	110746206	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	-15	c.-35 others(26): Show c.-3514_-3500delTTTTTTTTTTTTTTT		PPP1CC	ENSG00000186298.12	transcript	ENST00000335007.10	protein_coding					3316		chr12	TogoVar
PPP1R11_chr6_30062198_30075333	30062714	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0003	1	443	0.0023	-15	c.-46 others(26): Show c.-4696_-4682delTTTTTTTTTTTTTTT		PPP1R11	ENSG00000204619.8	transcript	ENST00000376772.8	protein_coding					4483		chr6	TogoVar
PPP1R12A_chr12_79768568_79940097	79801345	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02040.hp2 HG02897.hp1 others(1): Show HG01074.hp2 HG02040.hp2 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009	a0001c0002t0002g0015 a0001c0002t0005g0124 a0001c0002t0009g0092 others(1): Show a0001c0002t0002g0015 a0001c0002t0005g0124 a0001c0002t0009g0092 a0001c0002t0009g0093	4	312	0.0128	-15	c.200 others(34): Show c.2001-2776_2001-2762delTTTTTTTTTTTTTTT		PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	14/24						chr12	TogoVar
PPP1R12B_chr1_202343699_202597702	202348989	GACCAGGC others(8): Show GACCAGGCGCGGGAGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0007 a0003c0010t0007	a0003c0010t0007g0036 a0003c0010t0007g0036	1	254	0.0039	-15	c.139 others(22): Show c.139_153delACCAGGCGCGGGAGC	p.Thr others(11): Show p.Thr47_Ser51del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/24	292/15244	139/2949	47/982			chr1	TogoVar
PPP1R13B_chr14_103728195_103852575	103793101	GAGGGAAG others(8): Show GAGGGAAGGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0187 a0001c0006t0010g0187	1	332	0.0030	-15	c.157 others(32): Show c.157+4255_157+4269delTCCCTCCCCTTCCCT		PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	2/16						chr14	TogoVar
PPP1R13B_chr14_103728195_103852575	103811094	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp1 NA19030.hp1 HG02886.hp1 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0298 a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0001g0298 a0001c0005t0003g0296 a0001c0005t0003g0297	3	332	0.0090	-15	c.10- others(32): Show c.10-13591_10-13577delTTTTTTTTTTTTTTT		PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	1/16						chr14	TogoVar
PPP1R14A_chr19_38246237_38261374	38247408	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03225.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0005 a0001c0002t0001g0009	4	426	0.0094	-15	c.38 others(26): Show c.3895_*3909delAAAAAAAAAAAAAAA		PPP1R14A	ENSG00000167641.11	transcript	ENST00000301242.9	protein_coding					3828		chr19	TogoVar
PPP1R14C_chr6_150138044_150255392	150200207	TACACAAC others(8): Show TACACAACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0270 a0002c0002t0016g0271 a0002c0002t0016g0270 a0002c0002t0016g0271	2	312	0.0064	-15	c.307 others(34): Show c.307-14522_307-14508delCACACAACACACACA		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14D_chr15_40810451_40833708	40812558	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG03486.hp1 HG04115.hp1 others(3): Show HG02015.hp1 HG03486.hp1 HG04115.hp1 NA18943.hp1 NA18978.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073	6	388	0.0155	-15	c.31 others(26): Show c.3123_*3137delCTTTCTTTCTTTCTT		PPP1R14D	ENSG00000166143.10	transcript	ENST00000299174.10	protein_coding					2892		chr15	TogoVar
PPP1R14D_chr15_40810451_40833708	40821685	TGGGAGGC others(8): Show TGGGAGGCTGAGGCAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02258.hp2 others(9): Show HG01255.hp2 HG01884.hp2 HG02258.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 NA18906.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0001g0065 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	12	388	0.0309	-15	c.256 others(32): Show c.256-5447_256-5433delCTGCCTCAGCCTCCC		PPP1R14D	ENSG00000166143.10	transcript	ENST00000299174.10	protein_coding	1/3						chr15	TogoVar
PPP1R15B_chr1_204398381_204416817	204412047	CGGGGCGG others(8): Show CGGGGCGGGGGGGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 NA18985.hp2 HG01081.hp2 NA18985.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0001 a0003c0009t0001g0020 a0001c0001t0001g0001 a0003c0009t0001g0020	2	394	0.0051	-15	c.-65 others(24): Show c.-651_-637delCCCCCCCCCCGCCCC		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					231		chr1	TogoVar
PPP1R16A_chr8_144472982_144507121	144489353	AGGGGTTG others(8): Show AGGGGTTGGTCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02630.hp2 HG02258.hp2 HG02280.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0015g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0015g0186	3	356	0.0084	-15	c.-91 others(32): Show c.-913-657_-913-643delTCTGAGGGGGGTTGG		PPP1R16A	ENSG00000160972.10	transcript	ENST00000435887.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP1R16B_chr20_38800697_38928024	38804536	AATCACTA others(8): Show AATCACTAAACTCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0140 a0001c0002t0009g0140	1	244	0.0041	-15	c.-13 others(26): Show c.-1357_-1343delATCACTAAACTCAGG		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding					1160		chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38813767	CATTATTA others(8): Show CATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	244	0.0041	-15	c.-10 others(34): Show c.-102+8006_-102+8020delATTATTATTATTATT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar

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