Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYT1L_chr2_1784113_2336275	1829254	TTCCCATA others(89): Show TTCCCATACACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCCT CCCATACACCTGTGAACTGACCCTCCCATACACCTGTGAACTGACCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0097 a0001c0017t0004g0097	1	71	0.0141	-96	c.308 others(115): Show c.3080+9799_3080+9894delGGGTCAGTTCACAGGTGTATGGGAGG GTCAGTTCACAGGTGTATGGGAGGGTCAGTTCACAGGTGTATGGGAGGGT CAGTTCACAGGTGTATGGGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64214212	TGTGGGAG others(89): Show TGTGGGAGCGTGTGTGTGCATGTTCACACGCCTGTTTGTGTTTGCATATG TGCGGGTATGTTTACATGTGCGTGCAAGTCCATGTGTATGTGAACAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	222	0.0045	-96	c.163 others(113): Show c.1631+607_1631+702delTGCATATGTGCGGGTATGTTTACATGTG CGTGCAAGTCCATGTGTATGTGAACACGTGGGAGCGTGTGTGTGCATGTT CACACGCCTGTTTGTGTT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCBP2L_chrX_107772733_107800829	107782256	TATATAAA others(89): Show TATATAAATATATATATATAAATATATATAAATATATATATATAAATATA TATATAAATATATATATATAAATATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0228 a0001c0002t0004g0228	1	301	0.0033	-96	c.-73 others(113): Show c.-73+4404_-73+4499delAATATATATATATAAATATATATAAATA TATATATATAAATATATATATAAATATATATATATAAATATATATATAAA TATATATATATAAATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCEH1_chr3_172625249_172716067	172712399	CTTTTTTT others(89): Show CTTTTTTTTTTGTTTTGTTTGTTTTTGGTGTTTGTTTTTTGTTTTTTTTG AGACGGAGTCTTGCTCTTTTCGCCCAGGCTAGAGTGCAATGGCACGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0219 a0002c0002t0003g0219	1	330	0.0030	-96	c.-15 others(107): Show c.-1511_-1416delTCGTGCCATTGCACTCTAGCCTGGGCGAAAAGAG CAAGACTCCGTCTCAAAAAAAACAAAAAACAAACACCAAAAACAAACAAA ACAAAAAAAAAA	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding		1333		chr3	TogoVar
NDST3_chr4_118029486_118263634	118066554	TATGTTAT others(89): Show TATGTTATATATTATATATACATTATATATAACATGTTATATATTATATA TACATTATATATAACATGTTATATATTATATATACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA21309.hp2 HG01884.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0001 a0001c0004t0002 a0001c0005t0001	a0001c0004t0002g0008 a0001c0005t0001g0017 a0001c0004t0002g0008 a0001c0005t0001g0017	2	201	0.0100	-96	c.981 others(115): Show c.981+11971_981+12066delCATTATATATAACATGTTATATATTA TATATACATTATATATAACATGTTATATATTATATATACATTATATATAA CATGTTATATATTATATATA	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST4_chr4_114822763_115118620	115021461	GTACACAC others(89): Show GTACACACGTTCCACATATACACATTCCATATATACACACGTTCCACATA TACACATTCCATATATACACACGTTCCACATATACACATTCCATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00609.hp2 others(38): Show HG00323.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01099.hp2 HG01106.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18982.hp2 NA18984.hp2 NA18992.hp1 NA19060.hp1 NA19060.hp2 NA19075.hp1 NA19075.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0028 others(38): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0005g0021 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0003t0001g0094 a0001c0009t0001g0052	41	156	0.2628	-96	c.979 others(115): Show c.979-44283_979-44188delTATATGGAATGTGTATATGTGGAACG TGTGTATATATGGAATGTGTATATGTGGAACGTGTGTATATATGGAATGT GTATATGTGGAACGTGTGTA	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NDST4_chr4_114822763_115118620	115021663	TCCACATA others(89): Show TCCACATATACACATTCCATATATATACACGTTCCACATCTATACACATT CCATATATATACGTTCCACATCTATACACATTCCATATATATACCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02647.hp1 others(9): Show HG01109.hp1 HG02145.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0131 others(9): Show a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0131 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0121 a0001c0003t0001g0099 a0001c0006t0001g0098	12	188	0.0638	-96	c.979 others(115): Show c.979-44485_979-44390delGAGGTATATATATGGAATGTGTATAG ATGTGGAACGTATATATATGGAATGTGTATAGATGTGGAACGTGTATATA TATGGAATGTGTATATGTGG	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NGEF_chr2_232873701_233018256	232900331	CGCTCTCA others(89): Show CGCTCTCACAGTCACTCATACACGTTCACTCACATTCACTTACACACACA CGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTTACAT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0200 a0001c0003t0005g0200	1	360	0.0028	-96	c.829 others(113): Show c.829-5511_829-5416delATGTAAGTGAATGTGAGTGAACGTGTAT ATGAGTGACTGTGAGAGCGTGTGTGTGTAAGTGAATGTGAGTGAACGTGT ATGAGTGACTGTGAGAGC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232900372	ACACACAC others(89): Show ACACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCAC TTACATGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACT	A A	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0288 a0001c0003t0005g0288	1	360	0.0028	-96	c.829 others(113): Show c.829-5552_829-5457delAGTGAATGTGAGTGAACGTGTATATGAG TGACTGTGAGAGCATGTAAGTGAATGTGAGTGAACGTGTATATGAGTGAC TGTGAGAGCGTGTGTGTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232900517	CTTAGACA others(89): Show CTTAGACACATGCTCTCACAGTCACTCATATACACGTTCACTCACATTCA CTCACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG00741.hp2 others(38): Show HG00280.hp1 HG00673.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01884.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02257.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03492.hp2 HG03669.hp1 HG04199.hp1 HG04204.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18969.hp1 NA18973.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18998.hp2 NA19003.hp1 NA19060.hp2 NA19089.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0011 a0001c0005t0005 a0001c0005t0006 a0002c0006t0001 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008	a0001c0001t0001g0038 a0001c0001t0001g0199 a0001c0001t0001g0257 others(38): Show a0001c0001t0001g0038 a0001c0001t0001g0199 a0001c0001t0001g0257 a0001c0001t0005g0234 a0001c0001t0006g0062 a0001c0001t0006g0072 a0001c0001t0006g0131 a0001c0001t0006g0145 a0001c0001t0006g0169 a0001c0001t0006g0282 a0001c0001t0006g0324 a0001c0001t0006g0350 a0001c0001t0007g0039 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0240 a0001c0001t0008g0111 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0170 a0001c0001t0008g0211 a0001c0001t0008g0260 a0001c0001t0026g0345 a0001c0001t0031g0016 a0001c0001t0032g0308 a0001c0001t0033g0171 a0001c0002t0011g0208 a0001c0002t0011g0326 a0001c0005t0005g0320 a0001c0005t0006g0158 a0002c0006t0001g0166 a0002c0006t0006g0013 a0002c0006t0006g0056 a0002c0006t0006g0137 a0002c0006t0006g0142 a0002c0006t0006g0163 a0002c0006t0007g0026 a0002c0006t0008g0156 a0002c0006t0008g0165 a0002c0006t0008g0174 a0002c0006t0008g0188	41	309	0.1327	-96	c.829 others(113): Show c.829-5697_829-5602delATGTGAGTGAACGTGTATATGAGTGACT GTGAGAGCGTGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACT GTGAGAGCATGTGTCTAA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NHLRC2_chr10_113849661_113922194	113888805	GTTGAAAC others(89): Show GTTGAAACTCCTATCAGTATCTTTTTTTTTTTTTTTTTTTGAGACTGAGG CTCGCCATATCACCTAGGCTGGAGTGCAGTGACGTGATCTCGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0023 a0011c0012t0023	a0011c0012t0023g0042 a0011c0012t0023g0042	1	356	0.0028	-96	c.103 others(115): Show c.1039+4426_1039+4521delTTGAAACTCCTATCAGTATCTTTTTT TTTTTTTTTTTTTGAGACTGAGGCTCGCCATATCACCTAGGCTGGAGTGC AGTGACGTGATCTCGGCTCA	NHLRC2	ENSG00000196865.4	transcript	ENST00000369301.3	protein_coding	5/10			chr10	TogoVar
NINJ2_chr12_559296_668445	609244	ACGCTAGG others(89): Show ACGCTAGGGGCTGTACGCACGCACGGCGCCACGCGCTAGGTGCTGAACGC ACACGCACGGCGCCACGCGCTAGGTGCTGAACGCACACGCACGGCGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01168.hp2 others(2): Show HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0301 a0001c0001t0002g0057	5	208	0.0240	-96	c.34- others(113): Show c.34-43162_34-43067delGCGCCGTGCGTGTGCGTTCAGCACCTAG CGCGTGGCGCCGTGCGTGTGCGTTCAGCACCTAGCGCGTGGCGCCGTGCG TGCGTACAGCCCCTAGCG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	609246	GCTAGGGG others(89): Show GCTAGGGGCTGTACGCACGCACGGCGCCACGCGCTAGGTGCTGAACGCAC ACGCACGGCGCCACGCGCTAGGTGCTGAACGCACACGCACGGCGCCA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19011.hp1 NA18983.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0201 a0001c0001t0001g0006 a0001c0001t0001g0201	2	402	0.0050	-96	c.34- others(113): Show c.34-43164_34-43069delTGGCGCCGTGCGTGTGCGTTCAGCACCT AGCGCGTGGCGCCGTGCGTGTGCGTTCAGCACCTAGCGCGTGGCGCCGTG CGTGCGTACAGCCCCTAG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NOL4L_chr20_32438059_32590333	32488766	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0163 a0001c0002t0021g0163	1	184	0.0054	-96	c.700 others(115): Show c.700-14120_700-14025delAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAGGAAGGAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2945903	GCTGCCGT others(89): Show GCTGCCGTGCACTCTCACTCCAGATCACCCTCACTGCCGTGCACTCTCAC TCCAGATCACCCTCACTGCCGTGCACTCTCACTCCAGATCACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02630.hp2 HG01975.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0011 a0001c0001t0005 a0002c0002t0011	a0001c0001t0005g0194 a0002c0002t0011g0087 a0001c0001t0005g0194 a0002c0002t0011g0087	2	326	0.0061	-96	c.163 others(113): Show c.1635+413_1635+508delTGAGGGTGATCTGGAGTGAGAGTGCACG GCAGTGAGGGTGATCTGGAGTGAGAGTGCACGGCAGTGAGGGTGATCTGG AGTGAGAGTGCACGGCAG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NPIPB4_chr16_21829582_21862756	21830049	AGTGATTA others(89): Show AGTGATTATAGTACCAGCTACTCAAGAGGCTGATGCAGGAGAATCACTAA ACCGCATCTCTACTAAAAATACAAAACTTAGCCAGGCAAGGAGCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18977.hp1 NA18960.hp1 NA18977.hp1	a0055 a0057 a0055 a0057	a0055c0071 a0057c0070 a0055c0071 a0057c0070	a0055c0071t0001 a0057c0070t0001 a0055c0071t0001 a0057c0070t0001	a0055c0071t0001g0100 a0057c0070t0001g0099 a0055c0071t0001g0100 a0057c0070t0001g0099	2	204	0.0098	-96	c.45 others(107): Show c.4573_*4668delCGGGCTCCTTGCCTGGCTAAGTTTTGTATTTTTA GTAGAGATGCGGTTTAGTGATTCTCCTGCATCAGCCTCTTGAGTAGCTGG TACTATAATCAC	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding		4532		chr16	TogoVar
NPRL3_chr16_80386_143673	138435	GAGGGCAG others(89): Show GAGGGCAGGGGTGGAGGCGGAGGGGGCCTGAGGAGGGCAGGGGTGGAGGC GGAGGGGGCCTGAGGAGGGCAGGGGTGGAGGCGGAGGGGGCCTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02145.hp1 HG00639.hp2 HG02109.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0003 a0001c0001t0010 a0001c0002t0003	a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0002t0003g0292 a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0002t0003g0292	3	348	0.0086	-96	c.-68 others(111): Show c.-68+111_-67-102delACTCAGGCCCCCTCCGCCTCCACCCCTGCC CTCCTCAGGCCCCCTCCGCCTCCACCCCTGCCCTCCTCAGGCCCCCTCCG CCTCCACCCCTGCCCT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13			chr16	TogoVar
NTM_chr11_131365615_132341822	131928646	TCTGTTTG others(89): Show TCTGTTTGTTTTCTGTGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAACT CTGTTTGTTTTCTGTGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02258.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0014 a0001c0001t0009g0015 a0001c0001t0004g0014 a0001c0001t0009g0015	2	86	0.0233	-96	c.167 others(115): Show c.167+17051_167+17146delTTTGTTTTCTGTGGTCTCCCGTCTGT GTTTTGTCCCACTGCAAACTGTTTGTTTTCTGTGGTCTCCCGTCTGTGTT TTGTCCCACTGCAAACTCTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9226421	CGGTCTCG others(89): Show CGGTCTCGTGGGGAGGCGGTCTCGTGGGGAGGCTGTCTCGTGGGGAGGCT GTCTCGTGGGGAGGCGGTCTCGTGGGGAGGTGGTCTCGTGGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	256	0.0039	-96	c.148 others(115): Show c.1486+5218_1486+5313delGTGGGGAGGCTGTCTCGTGGGGAGGC GGTCTCGTGGGGAGGTGGTCTCGTGGGGAGGTGGTCTCGTGGGGAGGCGG TCTCGTGGGGAGGCTGTCTC	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP62CL_chrX_107118427_107211433	107204721	TTTATTTA others(89): Show TTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAAT TATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01975.hp1 HG02300.hp1 others(8): Show HG00558.hp2 HG01975.hp1 HG02300.hp1 NA18950.hp2 NA18963.hp1 NA18984.hp1 NA18993.hp1 NA19056.hp1 NA19079.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0045 others(8): Show a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090	11	260	0.0423	-96	c.-92 others(113): Show c.-92+1456_-92+1551delTTTATTTAAAATTTATTTAAATAATTTA TTTAAAATTTATTTAAATAATTTATTTAAAATTTATTTAAATAATTTATT TAAAATTTATTTAAATAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NXN_chr17_794310_984776	949577	TCCCCGCG others(89): Show TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTTGCCTCCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	237	0.0042	-96	c.360 others(115): Show c.360+29646_360+29741delGAGAGGAGGAGGCAACGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBP2A_chr9_135541126_135554969	135548977	ACTCTGGG others(89): Show ACTCTGGGCTGCGATGCGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGG GTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG02027.hp2 others(8): Show HG01081.hp2 HG01255.hp2 HG02027.hp2 HG02165.hp1 HG02451.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG06807.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0010 a0002c0002t0002g0031 a0002c0002t0002g0051 others(3): Show a0002c0002t0002g0010 a0002c0002t0002g0031 a0002c0002t0002g0051 a0002c0002t0002g0067 a0002c0002t0002g0122 a0002c0002t0005g0050	11	185	0.0595	-96	c.490 others(111): Show c.490+184_491-220delCGGTCTGGGGCTCCGCGCTCTGGGCTGCGA TGGGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGC GCTCTGGGCTGCGATG	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OBP2A_chr9_135541126_135554969	135548993	CGGTCTGG others(89): Show CGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGCGC TCTGGGCTGCGATGGGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGG	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02896.hp2 others(2): Show HG02055.hp1 HG02559.hp2 HG02896.hp2 HG03130.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0047 a0002c0002t0002g0054 others(1): Show a0002c0002t0002g0018 a0002c0002t0002g0047 a0002c0002t0002g0054 a0002c0002t0002g0082	5	183	0.0273	-96	c.490 others(111): Show c.490+184_491-220delCGGTCTGGGGCTCCGCGCTCTGGGCTGCGA TGGGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGC GCTCTGGGCTGCGATG	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6			chr9	TogoVar
OBP2A_chr9_135541126_135554969	135549139	TCTGGGCT others(89): Show TCTGGGCTGCGATGGGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGT CTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCTGAGCC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	454	0.0022	-96	c.491 others(110): Show c.491-146_491-51delGCTCCGCGCTCTGGGCTGCGATGGGGTCTGG GGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCTGAGCCCTGGGCT GCGATGGGGTCTGGG	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OPCML_chr11_132409981_133537501	133140892	CGAAGACG others(89): Show CGAAGACGACGACGACGAAGAAGAAGAAGACGACGACGACGAAGAAGAAG AAGACGACGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	50	0.0200	-96	c.62- others(115): Show c.62-197978_62-197883delTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCGTCGTCTTCTTCTTCTTCGTCGTCGTCGTCTTCTTCT TCTTCGTCGTCGTCGTCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68325687	CGTTTTCC others(89): Show CGTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTT CCTTTTCCATTATCCATATCCTTGTCCGGTGTCCTTTTCCGTGTCCG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 NA18522.hp1 HG02257.hp2 HG02630.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0023 a0001c0001t0003g0151 a0001c0001t0005g0152 a0001c0001t0002g0023 a0001c0001t0003g0151 a0001c0001t0005g0152	3	124	0.0242	-96	c.155 others(115): Show c.155-26687_155-26592delCGGACACGGAAAAGGACACCGGACAA GGATATGGATAATGGAAAAGGAAATGGAAAACGGAAAAGGAAAAGGAAAA CGGAAACGGATAAGGAAAAC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR1F1_chr16_3183204_3211556	3197817	GGGAGAAG others(89): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0167 a0003c0003t0005g0168 a0003c0003t0005g0167 a0003c0003t0005g0168	2	326	0.0061	-96	c.-12 others(113): Show c.-12-6417_-12-6322delGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3			chr16	TogoVar
OR4N4C_chr15_21646844_21657968	21653406	AATATATT others(89): Show AATATATTTTTATATATTTATAAATATATATTTTTATATATTTATAAATA TATATTTTTATATATTTATAAATATATATTTTTATATATTTATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03130.hp1 NA19240.hp1 HG02258.hp1 HG03130.hp1 NA19240.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0000 a0007c0009t0004g0000	3	90	0.0333	-96	c.52 others(105): Show c.522_*617delATATATTTTTATATATTTATAAATATATATTTTTAT ATATTTATAAATATATATTTTTATATATTTATAAATATATATTTTTATAT ATTTATAAAT	OR4N4C	ENSG00000279408.3	transcript	ENST00000623441.1	protein_coding		439		chr15	TogoVar
OSTF1_chr9_75083514_75152265	75128485	TATATATA others(89): Show TATATATATATTTTGTCCATATATATATATATATATTTTGTCCATATATA TATATATATATTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0260 a0001c0001t0006g0260	1	364	0.0027	-96	c.132 others(111): Show c.132+877_132+972delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATATTTTGTCCATATATATATATATATATATATT TTGTCCATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31511097	TGTATATC others(89): Show TGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATA TGTATATCTATATGTAACATACATATGTATATCTATATGTAACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG04204.hp2 HG02451.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0026 a0002c0003t0069 a0001c0002t0026 a0002c0003t0069	a0001c0002t0026g0016 a0002c0003t0069g0160 a0001c0002t0026g0016 a0002c0003t0069g0160	2	243	0.0082	-96	c.894 others(113): Show c.894-7375_894-7280delGTGTGTTACATATAGATATACATATGTA TGTTACATATAGATATACATATGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATAC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PABIR2_chrX_134764566_134802205	134788146	TACGTTAT others(89): Show TACGTTATATATGTGTAATATATACACGTTATATATGTGTAATATATACA CGTTATATATGTGTAATATATACACGTTATATATGTGTAATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054	5	140	0.0357	-96	c.435 others(111): Show c.435+488_435+583delGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PACRG_chr6_162722974_163320500	163269849	GAAAGAAA others(89): Show GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01981.hp1 HG02615.hp1 others(4): Show HG00140.hp2 HG01981.hp1 HG02615.hp1 HG02647.hp2 HG03471.hp1 HG04204.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0002g0029 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0099 a0001c0001t0003g0091 a0001c0001t0007g0094	7	99	0.0707	-96	c.614 others(115): Show c.614-44976_614-44881delAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAACAAAGAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(89): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG01243.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0042 a0001c0001t0003g0057 a0001c0001t0002g0042 a0001c0001t0003g0057	2	113	0.0177	-96	c.614 others(115): Show c.614-44972_614-44877delAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA CAAAGAAAGAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105330249	GAGAAGCC others(89): Show GAGAAGCCTGGGGTCCGTGTGTGGGACGGAATGGGGACAGGAGCCTCCGA GAAGCCTGGGGTCCGTGTGTGGGAAGGAACGGGGACAGGAGCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp1 HG03130.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0025 a0002c0005t0018 a0002c0002t0025 a0002c0005t0018	a0002c0002t0025g0178 a0002c0005t0018g0177 a0002c0002t0025g0178 a0002c0005t0018g0177	2	208	0.0096	-96	c.119 others(115): Show c.119+15234_119+15329delGGGACGGAATGGGGACAGGAGCCTCC GAGAAGCCTGGGGTCCGTGTGTGGGAAGGAACGGGGACAGGAGCCTCCAA GAAGCCTGGGGTCCGTGTGT	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAGE1_chrX_49682447_49700984	49690016	TGTATATA others(89): Show TGTATATACACACATATATATGTGTATATATGTGTATATATGTGTATATA CACACATATATATGTGTATATATGTGTATATATGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	320	0.0031	-96	c.293 others(111): Show c.293-569_293-474delGTGTATATATACACATATATACACATATAT ACACATATATATGTGTGTATATACACATATATACACATATATACACATAT ATATGTGTGTATATAC	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102868088	GTATATAT others(89): Show GTATATATATATATATACACATATATATACATATATGTGTATATATATAT ATATATATATATATATACACATATATATACATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	242	0.0041	-96	c.442 others(113): Show c.442-1521_442-1426delTATATATACACATATATGTATATATATG TGTATATATATATATATATATATATATATACACATATATGTATATATATG TGTATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAQR5_chr15_69293912_69412780	69300841	TTTTCTTT others(89): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	206	0.0049	-96	c.-27 others(115): Show c.-277+1787_-277+1882delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCT CTCTCTCTCTCTCTCTCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP6_chr15_72236181_72277554	72275860	AGTGTCAT others(89): Show AGTGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGG TGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	10	0.1000	-96	c.-40 others(107): Show c.-4023_-3928delCATGCAGTCAACTGCAGGGGCAAGATGATTGACA ATGCCAAATGACACCATGCAGTCAACTGCAGGGGCAAGATGATTGACAAT GCCAAATGACAC	PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding		3307		chr15	TogoVar
PCBP3_chr21_45638725_45947450	45918736	AGGAAGAA others(89): Show AGGAAGAAGTTACTCTCAGATAAACGGTCGGTGTAATTCCAGTGCTGGGG GAAGAAGTTACCCTCAGATAAACCATTGGTGTAATTCCAGTGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 NA19240.hp2 HG03209.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0160 a0001c0001t0010g0168 a0001c0001t0010g0180 a0001c0001t0010g0160 a0001c0001t0010g0168 a0001c0001t0010g0180	3	249	0.0120	-96	c.717 others(113): Show c.717+1120_717+1215delTCTCAGATAAACGGTCGGTGTAATTCCA GTGCTGGGGGAAGAAGTTACCCTCAGATAAACCATTGGTGTAATTCCAGT GCTGAGGGAAGAAGTTAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31928903	ATAAGAGG others(89): Show ATAAGAGGGAATATTAAGGATCTAAGTTGAGAGTTTTGCCCTATTTTTCC ATTTACTTACTAGAACTTAGGAGTATGCTGGGCTCTGAAAGGAGATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0011 a0011	a0011c0043 a0011c0043	a0011c0043t0002 a0011c0043t0002	a0011c0043t0002g0128 a0011c0043t0002g0128	1	214	0.0047	-96	c.477 others(115): Show c.477-54241_477-54146delTATTAAGGATCTAAGTTGAGAGTTTT GCCCTATTTTTCCATTTACTTACTAGAACTTAGGAGTATGCTGGGCTCTG AAAGGAGATTTAAGAGGGAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41402264	ATATATAT others(89): Show ATATATATATACACACTGTGTATATATATATATATACACACAGTGTGTAT ATATATATACACACACTGTGTGTATATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02976.hp2 HG03041.hp1 others(2): Show HG00280.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2 NA19010.hp1	a0002 a0004 a0018 a0002 a0004 a0018	a0002c0002 a0002c0016 a0004c0003 others(1): Show a0002c0002 a0002c0016 a0004c0003 a0018c0047	a0002c0002t0001 a0002c0016t0001 a0004c0003t0001 others(1): Show a0002c0002t0001 a0002c0016t0001 a0004c0003t0001 a0018c0047t0001	a0002c0002t0001g0168 a0002c0002t0001g0192 a0002c0016t0001g0101 others(2): Show a0002c0002t0001g0168 a0002c0002t0001g0192 a0002c0016t0001g0101 a0004c0003t0001g0108 a0018c0047t0001g0139	5	202	0.0248	-96	c.844 others(117): Show c.844-104181_844-104086delCACACTGTGTATATATATATATAT ACACACAGTGTGTATATATATATACACACACTGTGTGTATATATATATAT ACACACAGTGTGTATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIGQ_chr16_564968_589109	579427	CCTAGAGG others(89): Show CCTAGAGGTGCCCCGGGCCCAGAGACTAGAGATGCCCCGGGCCCGGAGAC TAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00639.hp1 others(43): Show HG00280.hp1 HG00544.hp1 HG00639.hp1 HG00738.hp1 HG01071.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18948.hp1 NA18948.hp2 NA18961.hp1 NA18962.hp2 NA18975.hp2 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19059.hp2 NA19064.hp2 NA19082.hp2 NA19089.hp1 NA19090.hp2 NA20752.hp1	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0002 a0004c0005 a0014c0021 a0001c0002 a0004c0005 a0014c0021	a0001c0002t0002 a0001c0002t0015 a0004c0005t0002 others(1): Show a0001c0002t0002 a0001c0002t0015 a0004c0005t0002 a0014c0021t0002	a0001c0002t0002g0002 a0001c0002t0002g0030 a0001c0002t0002g0032 others(30): Show a0001c0002t0002g0002 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0084 a0001c0002t0002g0246 a0001c0002t0002g0249 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0271 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0292 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0306 a0001c0002t0015g0002 a0004c0005t0002g0263 a0014c0021t0002g0280	46	305	0.1508	-96	c.133 others(113): Show c.1335+267_1335+362delAGAGACTAGAGATGCCCCGGGCCCGGAG ACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGAC TAGAGGTGCCCCGGGCCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	579447	AGAGACTA others(89): Show AGAGACTAGAGATGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGG AGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02451.hp2 others(13): Show HG01884.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0001c0004 a0001c0008 others(2): Show a0001c0002 a0001c0004 a0001c0008 a0003c0003 a0009c0023	a0001c0002t0003 a0001c0002t0006 a0001c0004t0004 others(4): Show a0001c0002t0003 a0001c0002t0006 a0001c0004t0004 a0001c0008t0004 a0001c0008t0016 a0003c0003t0008 a0009c0023t0004	a0001c0002t0003g0165 a0001c0002t0003g0223 a0001c0002t0006g0178 others(13): Show a0001c0002t0003g0165 a0001c0002t0003g0223 a0001c0002t0006g0178 a0001c0002t0006g0196 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0004g0057 a0001c0004t0004g0063 a0001c0004t0004g0311 a0001c0004t0004g0312 a0001c0004t0004g0322 a0001c0008t0004g0313 a0001c0008t0004g0316 a0001c0008t0016g0314 a0003c0003t0008g0059 a0009c0023t0004g0047	16	358	0.0447	-96	c.133 others(113): Show c.1335+278_1335+373delATGCCCCGGGCCCGGAGACTAGAGGTGC CCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCC CGGGCCCGGAGACTAGAG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	579574	TGAGGTGC others(89): Show TGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAG AGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp1 HG02280.hp2 others(9): Show HG01106.hp2 HG02129.hp1 HG02280.hp2 HG04115.hp2 NA18940.hp1 NA18956.hp2 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18984.hp2 NA19059.hp1 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0060 others(9): Show a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0089 a0003c0003t0003g0099 a0003c0003t0003g0100 a0003c0003t0003g0109 a0003c0003t0003g0110	12	208	0.0577	-96	c.133 others(113): Show c.1335+418_1336-490delAGAGGTGCCCCGGGCCCGGAGACTAGAG GTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGT GCCCCGGGCCCGGAGACT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PINX1_chr8_10759961_10844875	10833578	AGACGACT others(89): Show AGACGACTGGGGTGCGGGAGGCTGGAGAAGAATGACAACTGGGGTGCGGG AGGCTGGAGAAGAATGACGACTGGGGTGCGGGAGGCTGGAGAAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01081.hp1 others(25): Show HG00099.hp2 HG00280.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006	a0001c0003t0001g0123 a0001c0003t0003g0003 a0001c0003t0003g0006 others(21): Show a0001c0003t0001g0123 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0108 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0006g0117 a0001c0003t0006g0120 a0001c0003t0006g0121	28	201	0.1393	-96	c.130 others(111): Show c.130-690_130-595delATTCTTCTCCAGCCTCCCGCACCCCAGTCG TCATTCTTCTCCAGCCTCCCGCACCCCAGTTGTCATTCTTCTCCAGCCTC CCGCACCCCAGTCGTC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6			chr8	TogoVar
PLCB4_chr20_9064087_9485808	9188476	TAGTGACA others(89): Show TAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	138	0.0072	-96	c.-78 others(115): Show c.-78-28891_-78-28796delTTGTTCATTGTGGAGGGCTGTCATAT AGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATACAG TGACATTCTGGGTTGGTTAA	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLD1_chr3_171595404_171815483	171780220	GTTTGGAT others(89): Show GTTTGGATATATAAGTCTGAGATTCAGGAATGGGGTTTGGATATGTAAGT CTGAGGACTGGGATTTGGATCCATAAGTCTAACATTCAGGACTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0004 a0008c0012t0004	a0008c0012t0004g0287 a0008c0012t0004g0287	1	292	0.0034	-96	c.-32 others(115): Show c.-32+30083_-32+30178delTCCCAGTCCTGAATGTTAGACTTATG GATCCAAATCCCAGTCCTCAGACTTACATATCCAAACCCCATTCCTGAAT CTCAGACTTATATATCCAAA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242393418	GTATATAT others(89): Show GTATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGT ATATATATGTGTATATATGAGTATATATATGTGTATATATGAGTATA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0118 a0001c0001t0048g0118	1	175	0.0057	-96	c.190 others(115): Show c.190-45272_190-45177delTATACTCATATATACACATATATATA CTCATATATACACATATATATACTCATATATATACACATATATATACTCA TATATATACACATATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLIN2_chr9_19110761_19132492	19122486	TACCATAT others(89): Show TACCATATAGCCTAGGTATATAGCAGGCTATACACCATATAGCCTAGGTA TATAGCAGGCTATACACCATATAGCCTAGGTATATAGCAGGCTATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(192): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0009	a0001c0001 a0004c0007 a0007c0012 others(1): Show a0001c0001 a0004c0007 a0007c0012 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0004c0007t0002 a0007c0012t0003 a0009c0009t0002	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0098 others(65): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0005g0028 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0011g0153 a0001c0001t0012g0134 a0004c0007t0002g0138 a0007c0012t0003g0159 a0009c0009t0002g0135	195	338	0.5769	-96	c.309 others(112): Show c.309+983_309+1078delGTATAGCCTGCTATATACCTAGGCTATAT GGTGTATAGCCTGCTATATACCTAGGCTATATGGTGTATAGCCTGCTATA TACCTAGGCTATATGGT	PLIN2	ENSG00000147872.10	transcript	ENST00000276914.7	protein_coding	4/7			chr9	TogoVar
PLIN5_chr19_4517531_4540224	4525837	AGGACAGG others(89): Show AGGACAGGATACGGGGACAGCACGGGGACAGGATACGGGGACAGCACGGG GACAGGATACGGGGACAGCACGGGGACAGGATACGGGGACAGCACGG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02257.hp1 HG02258.hp2 others(12): Show HG02055.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0001t0008 a0001c0014t0003 a0001c0001t0003 a0001c0001t0008 a0001c0014t0003	a0001c0001t0003g0009 a0001c0001t0003g0066 a0001c0001t0003g0068 others(7): Show a0001c0001t0003g0009 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0210 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0008g0227 a0001c0014t0003g0225	15	310	0.0484	-96	c.521 others(109): Show c.521-101_521-6delCCGTGCTGTCCCCGTATCCTGTCCCCGTGCTG TCCCCGTATCCTGTCCCCGTGCTGTCCCCGTATCCTGTCCCCGTGCTGTC CCCGTATCCTGTCC	PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	5/7			chr19	TogoVar

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