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
OR8K3_chr11_56310144_56325639	56323288	GAGGTATA others(38): Show GAGGTATAATGGTTTAAATAAAAGTGGGGCACTTTCCCTTGCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-45	c.40 others(56): Show c.4044_*4088delAGGTATAATGGTTTAAATAAAAGTGGGGCACTTT CCCTTGCCCCC		OR8K3	ENSG00000280314.4	transcript	ENST00000641662.1	protein_coding					2650		chr11	TogoVar
OS9_chr12_57689132_57726557	57689832	GCCTCCCA others(38): Show GCCTCCCAAAGTGCTGGGATTAGAGGAGTGAGCCACCACACTCATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03516.hp1 HG02257.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0101 a0001c0001t0001g0019 a0001c0001t0001g0101	2	352	0.0057	-45	c.-43 others(56): Show c.-4329_-4285delCCTCCCAAAGTGCTGGGATTAGAGGAGTGAGCCA CCACACTCATT		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4299		chr12	TogoVar
OSBPL2_chr20_62233521_62301183	62288368	CTGCAGAG others(38): Show CTGCAGAGGCCGGAGGCTGTGGGTGCAGAGGCTGGGAGGCTGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	348	0.0029	-45	c.112 others(62): Show c.1126-829_1126-785delCGGAGGCTGTGGGTGCAGAGGCTGGGAG GCTGTGGGTGCAGAGGC		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
OSBPL2_chr20_62233521_62301183	62288461	ACAGAGGC others(38): Show ACAGAGGCCGGAGGCTGTGGGTGCAGAGGCTGGGAGGCTGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	348	0.0029	-45	c.112 others(62): Show c.1126-646_1126-602delGAGGCTGTGGGTGCAGAGGCTGGGAGGC TGTGGGTGCAGAGGCCG		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
OSBPL2_chr20_62233521_62301183	62288561	GAGGCTGT others(38): Show GAGGCTGTGGGTGCAGAGGCTGGGAGGCTGTGGGTGCAGAGGCCGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0221 a0001c0002t0008g0222 a0001c0002t0008g0221 a0001c0002t0008g0222	2	348	0.0058	-45	c.112 others(62): Show c.1126-630_1126-586delAGGCTGGGAGGCTGTGGGTGCAGAGGCC GAAGGCTGTGGGTGCAG		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
OVGP1_chr1_111409319_111432735	111414925	GGGTCAGG others(38): Show GGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp1 HG02451.hp1 HG02717.hp1 others(4): Show HG02258.hp1 HG02451.hp1 HG02717.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2	a0010 a0025 a0010 a0025	a0010c0011 a0025c0033 a0010c0011 a0025c0033	a0010c0011t0001 a0025c0033t0001 a0010c0011t0001 a0025c0033t0001	a0010c0011t0001g0016 a0010c0011t0001g0094 a0025c0033t0001g0055 a0010c0011t0001g0016 a0010c0011t0001g0094 a0025c0033t0001g0055	7	424	0.0165	-45	c.153 others(54): Show c.1531_1575delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAG ACCCTGACC	p.Ser others(13): Show p.Ser511_Thr525del	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding	11/11	1589/2196	1531/2037	511/678			chr1	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(38): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02818.hp1 others(3): Show HG01891.hp2 HG02486.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0231 a0001c0001t0003g0233 others(1): Show a0001c0001t0003g0007 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0286	6	396	0.0152	-45	c.-18 others(66): Show c.-180+16043_-180+16087delGAAATGAAATGAAATGAAATAAAA TAAAATAAAATAAAATAAAAT		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368609	TATTTTAT others(38): Show TATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	396	0.0025	-45	c.-18 others(66): Show c.-180+16038_-180+16082delGAAATGAAATGAAATGAAATGAAA TAAAATAAAATAAAATAAAAT		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368632	TTCATTTC others(38): Show TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18952.hp1 HG02132.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0116 a0001c0001t0003g0066 a0001c0001t0001g0116 a0001c0001t0003g0066	2	396	0.0051	-45	c.-18 others(66): Show c.-180+16015_-180+16059delCATGAAATGAAATGAAATGAAATG AAATGAAATGAAATGAAATGA		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368644	CATTTCAT others(38): Show CATTTCATTTCATTTCATTTCATTTCATTTCATGTCATTTCATTTT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	396	0.0025	-45	c.-18 others(66): Show c.-180+16003_-180+16047delAAAATGAAATGACATGAAATGAAA TGAAATGAAATGAAATGAAAT		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368677	GTCATTTC others(38): Show GTCATTTCATTTTATTTCATTTCATTTCATTTCATTTCATTTCATT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00609.hp1 others(21): Show HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00741.hp2 HG01071.hp2 HG01993.hp1 HG02735.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18957.hp2 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA18980.hp2 NA18990.hp2 NA19000.hp2 NA19004.hp1 NA19062.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0004 a0001c0009t0003	a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0204 others(19): Show a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0294 a0001c0001t0003g0011 a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0223 a0001c0001t0003g0242 a0001c0001t0003g0334 a0001c0002t0002g0058 a0001c0002t0002g0120 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0121 a0001c0009t0003g0241	24	396	0.0606	-45	c.-18 others(66): Show c.-180+15970_-180+16014delAATGAAATGAAATGAAATGAAATG AAATGAAATAAAATGAAATGA		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P3H2_chr3_189951728_190125897	189966083	GAAGAAAG others(38): Show GAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 HG02109.hp2 others(10): Show HG00544.hp2 HG02080.hp1 HG02109.hp2 HG02258.hp2 HG02647.hp1 HG03209.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18970.hp1 NA19002.hp2 NA19012.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0019 a0001c0001 a0001c0002 a0002c0019	a0001c0001t0002 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0009 a0002c0019t0007	a0001c0001t0002g0042 a0001c0002t0002g0032 a0001c0002t0002g0050 others(10): Show a0001c0001t0002g0042 a0001c0002t0002g0032 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0103 a0001c0002t0002g0147 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0258 a0001c0002t0002g0275 a0001c0002t0002g0290 a0001c0002t0009g0104 a0002c0019t0007g0299	13	304	0.0428	-45	c.189 others(64): Show c.1894-2030_1894-1986delTCTTTTTCTTTCTTTCTTTCTTTTTT CTTTCTTTCTTTCTTTCTT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14						chr3	TogoVar
PACRG_chr6_162722974_163320500	163291264	CCCCTCTG others(38): Show CCCCTCTGCCCGCCAGAGCTGGCCTGCGGGTCACCCTGCAAGATGA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp2 HG01361.hp2 others(19): Show HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG03017.hp1 HG03225.hp1 HG04184.hp2 NA18945.hp1 NA18955.hp2 NA18965.hp2 NA18981.hp1 NA19060.hp1 NA19063.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0002t0010 a0001c0004t0011	a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0041 others(19): Show a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0041 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0003g0007 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0017g0085 a0001c0002t0010g0064 a0001c0004t0011g0034	22	130	0.1692	-45	c.614 others(64): Show c.614-23514_614-23470delTCTGCCCGCCAGAGCTGGCCTGCGGG TCACCCTGCAAGATGACCC		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105346768	TTTCCCCC others(38): Show TTTCCCCCCACCCCCTGCACGGCTCCCCCACTCCCACGCGCATGAC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	210	0.0048	-45	c.120 others(62): Show c.120-1716_120-1672delACCCCCTGCACGGCTCCCCCACTCCCAC GCGCATGACTTCCCCCC		PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105346816	CCCCCCCA others(38): Show CCCCCCCACCCCCTGCACGGCTCCCCCACTCCCACGCGCATGACTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00423.hp1 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0142 a0001c0001t0001g0086 a0001c0001t0001g0142	2	210	0.0095	-45	c.120 others(62): Show c.120-1670_120-1626delACCCCCTGCACGGCTCCCCCACTCCCAC GCGCATGACTTCCCCCC		PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172372	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01074.hp2 HG01243.hp2 others(19): Show HG00609.hp2 HG01074.hp2 HG01243.hp2 HG01891.hp1 HG02280.hp2 HG03017.hp2 HG03491.hp1 HG04204.hp2 NA18957.hp1 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19054.hp2 NA19064.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0027 others(3): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0059	a0001c0001t0005g0004 a0001c0001t0005g0009 a0001c0001t0005g0016 others(14): Show a0001c0001t0005g0004 a0001c0001t0005g0009 a0001c0001t0005g0016 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0094 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0019g0015 a0001c0001t0027g0101 a0001c0001t0037g0091 a0001c0001t0037g0093 a0001c0001t0038g0004 a0001c0001t0038g0098 a0001c0001t0059g0099	22	432	0.0509	-45	c.46 others(56): Show c.4674_*4718delTATATATATATATATATATATATATATATATATT TTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1328		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172374	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18993.hp2 NA19066.hp1 HG02622.hp2 NA18993.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0045 a0001c0001t0003 a0001c0001t0027 a0001c0001t0045	a0001c0001t0003g0002 a0001c0001t0027g0100 a0001c0001t0045g0255 a0001c0001t0003g0002 a0001c0001t0027g0100 a0001c0001t0045g0255	3	432	0.0069	-45	c.46 others(56): Show c.4676_*4720delTATATATATATATATATATATATATATATATTTT TTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1330		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172376	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03225.hp2 HG03579.hp2 HG01081.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0027 a0001c0001t0029 a0001c0001t0017 a0001c0001t0027 a0001c0001t0029	a0001c0001t0017g0020 a0001c0001t0027g0096 a0001c0001t0029g0020 a0001c0001t0017g0020 a0001c0001t0027g0096 a0001c0001t0029g0020	3	432	0.0069	-45	c.46 others(56): Show c.4678_*4722delTATATATATATATATATATATATATATATTTTTT TTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1332		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172378	ATATATAT others(38): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG03139.hp2 HG02897.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0237 a0001c0001t0021g0043 a0001c0001t0002g0237 a0001c0001t0021g0043	2	432	0.0046	-45	c.46 others(56): Show c.4680_*4724delTATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1334		chr11	TogoVar
PAK4_chr19_39120786_39184404	39147062	TCAATTGA others(38): Show TCAATTGACAATTGTCATTGTCAATTGTCAATGACAATGTCATTGA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04204.hp2 HG04228.hp2 HG03688.hp1 HG04204.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0177 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0177	3	368	0.0082	-45	c.-96 others(64): Show c.-96+21146_-95-21121delATTGACAATTGTCATTGTCAATTGTC AATGACAATGTCATTGACA		PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
PAQR5_chr15_69293912_69412780	69300622	TTTCTTTC others(38): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02004.hp2 HG02523.hp2 others(4): Show HG01261.hp1 HG02004.hp2 HG02523.hp2 NA18522.hp2 NA19065.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0005g0046	7	284	0.0247	-45	c.-27 others(64): Show c.-277+1575_-277+1619delTTCTTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCATTCTTTCT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69365046	AATTTTAT others(38): Show AATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0134 a0001c0003t0011g0134	1	284	0.0035	-45	c.51+ others(60): Show c.51+4940_51+4984delTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD6G_chr18_80152232_80252514	80246598	AGGTGGGG others(38): Show AGGTGGGGGAGTCTGGGGTGGGGGCGCGCCCGTGGGGGTGGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0364 a0001c0002t0001g0364	1	382	0.0026	-45	c.72+ others(58): Show c.72+634_72+678delCCACCCCACCCCCACGGGCGCGCCCCCACCCC AGACTCCCCCACC		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	1/2						chr18	TogoVar
PARL_chr3_183824271_183889880	183882221	AAATATAT others(38): Show AAATATATATATATATATATATATTTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18612.hp1 NA18985.hp2 others(2): Show HG01167.hp1 NA18612.hp1 NA18985.hp2 NA18986.hp1 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0075 others(2): Show a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077	5	358	0.0140	-45	c.125 others(62): Show c.125+2456_125+2500delATATATATATATATATATATAAATATAT ATATATATATATATATT		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARP12_chr7_140018749_140067951	140035984	GAGGAGGA others(38): Show GAGGAGGAGGAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG01361.hp1 others(5): Show HG01123.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 others(4): Show a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0006g0043	8	360	0.0222	-45	c.132 others(64): Show c.1324+1686_1325-1654delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTCCTCCTCCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARP12_chr7_140018749_140067951	140035993	GAGGAGGA others(38): Show GAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01069.hp1 others(14): Show HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG02615.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0008c0017 a0002c0004 a0008c0017	a0002c0004t0003 a0008c0017t0003 a0002c0004t0003 a0008c0017t0003	a0002c0004t0003g0016 a0002c0004t0003g0017 a0002c0004t0003g0018 others(10): Show a0002c0004t0003g0016 a0002c0004t0003g0017 a0002c0004t0003g0018 a0002c0004t0003g0019 a0002c0004t0003g0065 a0002c0004t0003g0067 a0002c0004t0003g0068 a0002c0004t0003g0069 a0002c0004t0003g0070 a0002c0004t0003g0071 a0002c0004t0003g0072 a0002c0004t0003g0134 a0008c0017t0003g0163	17	360	0.0472	-45	c.132 others(64): Show c.1324+1677_1325-1663delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTTCTCCTCCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARP15_chr3_122572650_122644047	122603029	CCTTTATT others(38): Show CCTTTATTTTTATTTTTGGTGGTGAACACCTACTTGACCAAAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0333 a0005c0005t0001g0333	1	356	0.0028	-45	c.187 others(62): Show c.187-2904_187-2860delTTATTTTTATTTTTGGTGGTGAACACCT ACTTGACCAAAAAGTCT		PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
PAWR_chr12_79579879_79695964	79613943	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	256	0.0039	-45	c.649 others(60): Show c.649-379_649-335delAAAAAAAAATATATATATATATATATATAT ATATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613947	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	256	0.0039	-45	c.649 others(60): Show c.649-383_649-339delAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(38): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0034 a0005c0008t0034	a0005c0008t0034g0255 a0005c0008t0034g0255	1	256	0.0039	-45	c.649 others(60): Show c.649-395_649-351delAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79632302	TATATACA others(38): Show TATATACATACATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	256	0.0039	-45	c.517 others(64): Show c.517-11140_517-11096delTATATATATATATATATATATATATA TATATATATGTATGTATAT		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PAX5_chr9_36828269_37039268	36973090	GAAAGGAA others(38): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG01109.hp1 others(26): Show HG00140.hp2 HG01081.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01884.hp1 HG01943.hp2 HG02071.hp2 HG02109.hp2 HG02630.hp1 HG02698.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03471.hp2 HG03710.hp1 HG03834.hp2 NA18522.hp1 NA18939.hp1 NA18964.hp1 NA18966.hp2 NA18982.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0018 a0001c0001t0038 a0001c0001t0053 a0001c0001t0063 a0001c0001t0099 a0001c0001t0117 a0001c0002t0004 a0001c0002t0008 a0001c0002t0012 a0001c0002t0017 a0001c0002t0027 a0001c0002t0044 a0001c0002t0056 a0001c0002t0057 a0001c0002t0073 a0001c0002t0077 a0001c0002t0096 a0001c0002t0107 a0001c0002t0116 a0001c0009t0024	a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0128 others(26): Show a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0188 a0001c0001t0001g0252 a0001c0001t0002g0143 a0001c0001t0012g0181 a0001c0001t0018g0160 a0001c0001t0018g0183 a0001c0001t0038g0261 a0001c0001t0053g0013 a0001c0001t0063g0032 a0001c0001t0099g0133 a0001c0001t0117g0258 a0001c0002t0004g0239 a0001c0002t0008g0171 a0001c0002t0012g0236 a0001c0002t0017g0249 a0001c0002t0027g0238 a0001c0002t0044g0008 a0001c0002t0056g0018 a0001c0002t0057g0016 a0001c0002t0073g0073 a0001c0002t0077g0072 a0001c0002t0096g0242 a0001c0002t0107g0219 a0001c0002t0116g0267 a0001c0009t0024g0184	29	274	0.1058	-45	c.605 others(62): Show c.605-6411_605-6367delTCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTT		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAXBP1_chr21_32728899_32776755	32761695	TCAGCACT others(38): Show TCAGCACTTTGGGAGGCTGAGGCATGGTGGCCCATGCCTGTAATCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03471.hp1 HG02630.hp1 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0061	3	360	0.0083	-45	c.871 others(60): Show c.871+356_871+400delGGATTACAGGCATGGGCCACCATGCCTCAG CCTCCCAAAGTGCTG		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding	4/17						chr21	TogoVar
PCBP3_chr21_45638725_45947450	45814435	GATGAGTG others(38): Show GATGAGTGGTGAGTGGTGAGTGGTGAGTGATGAGTGGTGAGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	292	0.0034	-45	c.-12 others(66): Show c.-125-35525_-125-35481delATGAGTGGTGAGTGGTGAGTGGTG AGTGATGAGTGGTGAGTGAGT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17						chr21	TogoVar
PCDH17_chr13_57626744_57734311	57715402	GAGTGTGT others(38): Show GAGTGTGTCATATATTCAAGGAATGGAATGCTGAAGAATATACTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	310	0.0032	-45	c.279 others(64): Show c.2798-9206_2798-9162delGTGTCATATATTCAAGGAATGGAATG CTGAAGAATATACTGTAGT		PCDH17	ENSG00000118946.12	transcript	ENST00000377918.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH20_chr13_61404685_61420849	61416165	CCCCCTTT others(38): Show CCCCCTTTCCTCCTTCCTTCCTTTCCTTCCTTCCCCTTCCCCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	458	0.0022	-45	c.-10 others(56): Show c.-1052_-1008delAAGAGGGGAAGGGGAAGGAAGGAAAGGAAGGAAG GAGGAAAGGGG		PCDH20	ENSG00000280165.2	transcript	ENST00000409204.5	protein_coding					317		chr13	TogoVar
PCDH7_chr4_30715369_31151800	31056478	AAAGAAAG others(38): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18612.hp1 NA18959.hp1 HG02015.hp2 NA18612.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0002t0040 a0001c0001t0005 a0001c0002t0002 a0001c0002t0040	a0001c0001t0005g0030 a0001c0002t0002g0163 a0001c0002t0040g0145 a0001c0001t0005g0030 a0001c0002t0002g0163 a0001c0002t0040g0145	3	214	0.0140	-45	c.339 others(66): Show c.3392-85994_3392-85950delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGGGGAAG		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2						chr4	TogoVar
PCGF3_chr4_700832_775089	716435	CGTCGGTG others(38): Show CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19000.hp2 NA18983.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0181 a0001c0001t0002g0182	2	366	0.0055	-45	c.-19 others(66): Show c.-190+10555_-190+10599delTGTCGGTGCTGGGACCCTGTGGAC ACTGCGAGTGTGAGAACTGGG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK2_chr20_17222040_17489578	17347855	AGAAAGAG others(38): Show AGAAAGAGGAGAGAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG03540.hp2 HG02630.hp2 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0014 a0001c0001t0031 a0001c0005t0012 a0001c0001t0014 a0001c0001t0031 a0001c0005t0012	a0001c0001t0014g0006 a0001c0001t0031g0069 a0001c0005t0012g0048 a0001c0001t0014g0006 a0001c0001t0031g0069 a0001c0005t0012g0048	3	274	0.0110	-45	c.283 others(64): Show c.283-10471_283-10427delGAAAGAGGAGAGAGAAAAAAGAAAGA AAGAAAGAAAGAAAGAAAG		PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11						chr20	TogoVar
PCSK6_chr15_101298933_101494707	101360584	GGGGGCCT others(38): Show GGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp2 HG02258.hp1 others(2): Show HG00408.hp2 HG01123.hp2 HG02258.hp1 HG02486.hp2 HG02809.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0005c0052 a0009c0028	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0005c0052t0015 a0009c0028t0001	a0001c0001t0001g0272 a0001c0002t0001g0150 a0001c0004t0002g0047 others(2): Show a0001c0001t0001g0272 a0001c0002t0001g0150 a0001c0004t0002g0047 a0005c0052t0015g0140 a0009c0028t0001g0327	5	336	0.0149	-45	c.185 others(64): Show c.1858+5567_1858+5611delTGGGCAGGAGTGTGCCTGGTGTGTTC CAGGGGATGCTAAGGCCCC		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21						chr15	TogoVar
PC_chr11_66843420_66963383	66873463	TTATATAT others(38): Show TTATATATAATATAATATATAATATTATATATATTATATAATATTA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	274	0.0037	-45	c.1-1 others(58): Show c.1-1349_1-1305delTAATATTATATAATATATATAATATTATATAT TATATTATATATA		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22						chr11	TogoVar
PDE1A_chr2_182135041_182432036	182385704	GCTCTCCC others(38): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(112): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18981.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19082.hp2 NA19087.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0047 a0001c0004t0039 a0002c0002t0001 a0004c0006t0009	a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 others(112): Show a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0089 a0001c0001t0002g0137 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0003g0015 a0001c0001t0003g0059 a0001c0001t0003g0081 a0001c0001t0003g0136 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0239 a0001c0001t0003g0254 a0001c0001t0003g0258 a0001c0001t0004g0075 a0001c0001t0004g0120 a0001c0001t0004g0140 a0001c0001t0004g0147 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0205 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0006g0029 a0001c0001t0006g0175 a0001c0001t0007g0034 a0001c0001t0007g0054 a0001c0001t0007g0159 a0001c0001t0007g0249 a0001c0001t0008g0133 a0001c0001t0009g0117 a0001c0001t0009g0253 a0001c0001t0010g0176 a0001c0001t0011g0121 a0001c0001t0011g0251 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0012g0168 a0001c0001t0012g0255 a0001c0001t0014g0002 a0001c0001t0016g0169 a0001c0001t0016g0170 a0001c0001t0016g0171 a0001c0001t0016g0189 a0001c0001t0017g0139 a0001c0001t0017g0144 a0001c0001t0017g0183 a0001c0001t0018g0129 a0001c0001t0018g0221 a0001c0001t0020g0064 a0001c0001t0022g0007 a0001c0001t0024g0248 a0001c0001t0025g0013 a0001c0001t0026g0157 a0001c0001t0028g0138 a0001c0001t0028g0259 a0001c0001t0031g0033 a0001c0001t0032g0238 a0001c0001t0034g0026 a0001c0001t0035g0230 a0001c0001t0037g0070 a0001c0001t0038g0030 a0001c0001t0047g0063 a0001c0004t0039g0021 a0002c0002t0001g0204 a0002c0002t0001g0207 a0004c0006t0009g0210	115	264	0.4356	-45	c.53+ others(62): Show c.53+40829_53+40873delGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAG		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14						chr2	TogoVar
PDE6B_chr4_620573_675782	657494	GGTGCGGC others(38): Show GGTGCGGCGGGGCAGGACGTCCAGGGGTCACCCAGGGGTCACGGCT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	308	0.0033	-45	c.140 others(59): Show c.1401+4_1401+48delCGGCGGGGCAGGACGTCCAGGGGTCACCCAG GGGTCACGGCTGTG		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6G_chr17_81645459_81661542	81659528	GGCGGAGG others(38): Show GGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	434	0.0023	-45	c.-31 others(56): Show c.-3140_-3096delAGGTTGGAGTGCAGTGGCGCCATCTCAGCTCACT GCAACCTCCGC		PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding					2987		chr17	TogoVar
PDGFA_chr7_492258_524846	510722	GGGAGAGG others(38): Show GGGAGAGGAGGGGAGGGGAGAGGAGAGGAGGGGAGGGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0073 a0001c0001t0022 a0001c0001t0073	a0001c0001t0022g0279 a0001c0001t0073g0116 a0001c0001t0022g0279 a0001c0001t0073g0116	2	302	0.0066	-45	c.453 others(58): Show c.453+42_453+86delTCTCCTCTCCCCTCCCCTCCTCTCCTCTCCCC TCCCCTCCTCTCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5						chr7	TogoVar
PDGFA_chr7_492258_524846	511292	TGGGGAGA others(38): Show TGGGGAGAGGGGAACTTAGTCCAGGTGGGGCCAGAGACTGGGGGTG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0003 a0015c0014t0003	a0015c0014t0003g0103 a0015c0014t0003g0103	1	302	0.0033	-45	c.266 others(60): Show c.266-341_266-297delCACCCCCAGTCTCTGGCCCCACCTGGACTA AGTTCCCCTCTCCCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFB_chr22_39218359_39249982	39247876	AAAAAAAA others(38): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0086 a0001c0001t0013g0085 a0001c0001t0004g0086 a0001c0001t0013g0085	2	386	0.0052	-45	c.-39 others(56): Show c.-3958_-3914delATATATATATATATATATATATATATATATATTT TTTTTTTTTTT		PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding					2895		chr22	TogoVar
PDILT_chr16_20354175_20409737	20373282	TGGCCAGA others(38): Show TGGCCAGATTAGTCAGTGGGTAGAATCTGGGTAGGTGACAGCCATG	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0181 a0020c0032t0001g0181	1	406	0.0025	-45	c.682 others(60): Show c.682-205_682-161delCATGGCTGTCACCTACCCAGATTCTACCCA CTGACTAATCTGGCC		PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	5/11						chr16	TogoVar
PDYN_chr20_1973759_1999058	1995244	CAGTTGGT others(38): Show CAGTTGGTTAATATTATCCCCATCTTGCAGATGAGAAAACAGAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	390	0.0026	-45	c.-14 others(56): Show c.-1458_-1414delACCTCTGTTTTCTCATCTGCAAGATGGGGATAAT ATTAACCAACT		PDYN	ENSG00000101327.9	transcript	ENST00000217305.3	protein_coding					1187		chr20	TogoVar
PER2_chr2_238239044_238293610	238269415	TAACCTGC others(38): Show TAACCTGCAACTGAACACACTCACGGTGCACTGCTGCAAACACACC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG01069.hp2 others(32): Show HG00438.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG01433.hp1 HG01952.hp2 HG02896.hp1 HG02897.hp1 HG03490.hp2 NA18612.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19070.hp2 NA19076.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA20300.hp1 NA21309.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0005 a0001c0030 a0006c0011 others(1): Show a0001c0005 a0001c0030 a0006c0011 a0008c0013	a0001c0005t0003 a0001c0005t0012 a0001c0005t0013 others(5): Show a0001c0005t0003 a0001c0005t0012 a0001c0005t0013 a0001c0005t0025 a0001c0030t0020 a0006c0011t0003 a0008c0013t0003 a0008c0013t0032	a0001c0005t0003g0278 a0001c0005t0003g0280 a0001c0005t0003g0281 others(30): Show a0001c0005t0003g0278 a0001c0005t0003g0280 a0001c0005t0003g0281 a0001c0005t0003g0282 a0001c0005t0003g0283 a0001c0005t0003g0285 a0001c0005t0003g0288 a0001c0005t0003g0289 a0001c0005t0003g0291 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0295 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0300 a0001c0005t0003g0301 a0001c0005t0003g0302 a0001c0005t0003g0306 a0001c0005t0012g0028 a0001c0005t0012g0279 a0001c0005t0012g0284 a0001c0005t0012g0296 a0001c0005t0013g0286 a0001c0005t0013g0287 a0001c0005t0013g0303 a0001c0005t0013g0305 a0001c0005t0025g0307 a0001c0030t0020g0217 a0006c0011t0003g0029 a0006c0011t0003g0304 a0008c0013t0003g0290 a0008c0013t0032g0292	35	370	0.0946	-45	c.773 others(60): Show c.773-486_773-442delGGTGTGTTTGCAGCAGTGCACCGTGAGTGT GTTCAGTTGCAGGTT		PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	6/22						chr2	TogoVar

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