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
NXN_chr17_794310_984776	841532	T T	TGGAGCAT others(224): Show TGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGTGCATCTCA CACGGGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACGCCGGCGAGCA GGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGA CCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	242	0.0041	231	c.361 others(250): Show c.361-15455_361-15454insGTGGTCAGGGGGGACCTGCTCGCCCG TGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCT CCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCG CCCGTGTGAGATGCACCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGAT GCTCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(224): Show AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGT CCCCCCGACCACGGCGCATCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	242	0.0041	231	c.361 others(250): Show c.361-15514_361-15513insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGA CCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135124531	G G	GGAAGGGG others(224): Show GGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAAAGAA AGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGGAAA GAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0190 a0001c0003t0004g0190	1	360	0.0028	231	c.43 others(242): Show c.4353_*4354insGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAA GGAAGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAA GAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3352		chr9	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(224): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01346.hp2 HG01069.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	2	426	0.0047	231	c.33 others(242): Show c.3342_*3343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGACAATAAAGTTTTCATTGTGATCACACTACAGAAAAAAATACCTTC TGTTCTTTGCAAAAAATGTGCGAAGGCCAAATCTGTGTTTTTCTTTTCTA AAAAAAAGGATGTTGCATGAGTTACAATGCAACCAGTATCTTTTTGTTTC TGCACTTGTTAAAAAATCATTTGATTTTTTAACAATTTGCCATTTTC	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding		3342		chr11	TogoVar
OR2T12_chr1_248285139_248308424	248306881	C C	CGCCCTGA others(224): Show CGCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCCTGAGGACTG GAGCCCCCTGAGGACAGGAGCCGCCCTGAGGCCTGGAGCCGCCCTGAGGA CTGGAGCCGCCTGAGGACTGGAGCCTCCTGAGGACAGGAGCCCCCTGAGG ACAGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCGT GAGGACTGGAGCCGCCCTGAGGACAGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02809.hp1 others(4): Show HG01243.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG03098.hp2 NA19030.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0008 a0011c0012t0008	a0011c0012t0008g0010 a0011c0012t0008g0054 a0011c0012t0008g0010 a0011c0012t0008g0054	7	406	0.0172	231	c.-37 others(242): Show c.-3726_-3725insCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAC GGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCTGTCC TCAGGGGGCTCCTGTCCTCAGGAGGCTCCAGTCCTCAGGCGGCTCCAGTC CTCAGGGCGGCTCCAGGCCTCAGGGCGGCTCCTGTCCTCAGGGGGCTCCA GTCCTCAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGGC	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3458		chr1	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(224): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATATTTTATTATATAAATATATATTATATTATATAATATAATATA TATTAATATAAATATATATTATATTATATAATATAATATATATAATATAA TATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	227	0.0044	231	c.-55 others(246): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATATTTTATTATATAAATATATATTATATTATATAATATAATATATATT AATATAAATATATATTATATTATATAATATAATATATATAATATAATATA ATATATTTTATTATATAAATATATATTATATTATATAATATAATATATAT T	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(224): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATATTTTATTATATAAATATATATTATATTATATAATATAATATA TATTAATATAAATATATATTATATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0060 a0001c0008t0001g0060	1	227	0.0044	231	c.-55 others(246): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATATTTTATTATATAAATATATATTATATTATATAATATAATATATATT AATATAAATATATATTATATTATATAATATAATATATATTATATAATATA ATATATTTTATTATATAAATATATATTATATTATATAATATAATATATAT T	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(224): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATTATATATATATTTTATTATATAATATAATATATATTATATA ATATAATATATTTTATTATATAAATATATATTATATTATATAATATAATA TATATTAATATAAATATATATTATATTATATAATATAATATATATTATAT AATATAATATATTTTATTATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	227	0.0044	231	c.-55 others(246): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATTATATATATATTTTATTATATAATATAATATATATTATATAATAT AATATATTTTATTATATAAATATATATTATATTATATAATATAATATATA TTAATATAAATATATATTATATTATATAATATAATATATATTATATAATA TAATATATTTTATTATATAAATATATAATATTATATAATATAATATATAT T	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107943	A A	AATATAAT others(224): Show AATATAATATATATTATATAATATATATATTATTATATAATATAATATAT ATTATATAATATATTTTATTATATAATATAATATATATTATATAATATAA TATATTTTATTATATAAATATATATTATATTATATAATATAATATATATT TATATAATATAAATATATATTATATTATATAATATAATATATATTATATA ATATATTTTATTATATAAATATATATTATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	227	0.0044	231	c.-55 others(246): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATAATATAATAT ATATTTATATAATATAAATATATATTATATTATATAATATAATATATATT ATATAATATATTTTATTATATAAATATATATTATATTATATAATATATAT T	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(224): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TTATATATATTATATATATATTATATATATAATATATATAATATATATAA TATAATATATTTTATATATATATAATATATTATATAATATAATATATATA TTATATATATAATATATATATAATATAATATAATATAATATATTATATTA TATAATATATGATATAAATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02572.hp2 HG01496.hp2 HG02572.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0021 a0003c0004t0003g0021	2	215	0.0093	231	c.9+6 others(242): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATTATATATATTATATATATATTATATATATAATATAT ATAATATATATAATATAATATATTTTATATATATATAATATATTATATAA TATAATATATATATTATATATATAATATATATATAATATAATATAATATA ATATATTATATTATATAATATATGATATAAATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(224): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCGGGAGGGGAGGGGG AGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp1 NA19090.hp2 HG01943.hp2 HG01978.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0238 a0001c0001t0003g0246 a0001c0001t0003g0247	3	302	0.0099	231	c.155 others(248): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTT CCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(224): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCC CCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0087 a0002c0002t0004g0087	1	308	0.0033	231	c.226 others(250): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCCTCCTCCCCTTCCTCCCCTCCCCCT CCTCCCCTTCCTCCCCTCCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(224): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	308	0.0033	231	c.226 others(250): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCCCTCCCCCCTCCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(224): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCC CCCTCCCCTCCCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0099 a0007c0010t0004g0099	1	308	0.0033	231	c.226 others(250): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCTCC CCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCT CCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCCCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(224): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCCTCCCGCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCCCTCCCCCTCCACTCCCCTTCCCCTCCCCTCCCACTC CCCTTCCCCTCCCCTCCACTCCCCTGTCCCCTCCCCTCCCCTGCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0092 a0003c0003t0003g0092	1	308	0.0033	231	c.226 others(250): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCCTCCCGCCCCTCCTCCCCCCCTCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCACTCCCCTTC CCCTCCCCTCCCACTCCCCTTCCCCTCCCCTCCACTCCCCTGTCCCCTCC CCTCCCCTGCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCCTCCCCTCCCC TCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(224): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCA CTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp2 NA18951.hp1 HG00621.hp2 HG02027.hp2 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0034 a0003c0003t0003g0210 a0003c0003t0003g0002 a0003c0003t0003g0034 a0003c0003t0003g0210	3	308	0.0097	231	c.226 others(250): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC TCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(224): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTG GTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19088.hp1 NA18962.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0226 a0002c0002t0002g0227	2	380	0.0053	231	c.255 others(250): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCT TCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCAC CATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCNT_chr21_46319156_46450769	46423741	A A	AGAGGGGA others(224): Show AGAGGGGAGGAGGAGGAAGAGAAGGGAGGGGGATGAGGAGGGGGAGGGGA GGAGGAAGAGAAGGGGAGGGGAGAGGGGAGGAGGAGGAAGAGAAGGGAGG GGGATGAGGAGGGGGAGGGGAGGAGGAAGAGAAGGGGAGGGGGAGGGGAG AGGGGAGAGGGGAGGAGGAGGAAGAGAAGGGAGGGGGATGAGGAGGGGGA GGGGAGGAGGAAGAGAAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02280.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0317 a0001c0001t0001g0318	2	332	0.0060	231	c.717 others(250): Show c.7179+1617_7179+1618insGAGGGGAGGAGGAGGAAGAGAAGGGA GGGGGATGAGGAGGGGGAGGGGAGGAGGAAGAGAAGGGGAGGGGAGAGGG GAGGAGGAGGAAGAGAAGGGAGGGGGATGAGGAGGGGGAGGGGAGGAGGA AGAGAAGGGGAGGGGGAGGGGAGAGGGGAGAGGGGAGGAGGAGGAAGAGA AGGGAGGGGGATGAGGAGGGGGAGGGGAGGAGGAAGAGAAGGGGAGGGGG AGGGG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	32/46			chr21	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCA others(224): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01169.hp1 others(2): Show HG00639.hp2 HG01123.hp1 HG01169.hp1 HG01258.hp2 HG01358.hp1	a0001 a0005 a0012 others(2): Show a0001 a0005 a0012 a0019 a0033	a0001c0004 a0005c0002 a0012c0020 others(2): Show a0001c0004 a0005c0002 a0012c0020 a0019c0025 a0033c0031	a0001c0004t0002 a0005c0002t0029 a0012c0020t0003 others(2): Show a0001c0004t0002 a0005c0002t0029 a0012c0020t0003 a0019c0025t0001 a0033c0031t0044	a0001c0004t0002g0152 a0005c0002t0029g0157 a0012c0020t0003g0154 others(2): Show a0001c0004t0002g0152 a0005c0002t0029g0157 a0012c0020t0003g0154 a0019c0025t0001g0146 a0033c0031t0044g0135	5	166	0.0301	231	c.633 others(248): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(224): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCC CCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCCATCCCC TCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG03017.hp2 HG03471.hp2 others(3): Show HG02897.hp1 HG03017.hp2 HG03471.hp2 HG03540.hp1 NA19043.hp2 NA19240.hp2	a0002 a0002	a0002c0008 a0002c0017 a0002c0034 a0002c0008 a0002c0017 a0002c0034	a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 others(2): Show a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0002c0017t0003 a0002c0034t0001	a0002c0008t0001g0018 a0002c0008t0001g0026 a0002c0008t0002g0027 others(3): Show a0002c0008t0001g0018 a0002c0008t0001g0026 a0002c0008t0002g0027 a0002c0017t0001g0033 a0002c0017t0003g0021 a0002c0034t0001g0019	6	336	0.0179	231	c.-37 others(242): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGG GGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGG GAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(224): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCC CCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCCATCCCC TCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA18522.hp1 HG02886.hp2 NA18522.hp1	a0002 a0019 a0002 a0019	a0002c0008 a0019c0033 a0002c0008 a0019c0033	a0002c0008t0001 a0019c0033t0001 a0002c0008t0001 a0019c0033t0001	a0002c0008t0001g0029 a0019c0033t0001g0028 a0002c0008t0001g0029 a0019c0033t0001g0028	2	336	0.0060	231	c.-37 others(242): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGG GGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGG GAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(224): Show CGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAA GAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	342	0.0029	231	c.20- others(246): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT C	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741372	C C	CGGGGGGC others(224): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0198 a0001c0001t0103g0198	1	358	0.0028	231	c.143 others(246): Show c.143-287_143-286insCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC T	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHACTR3_chr20_59599540_59852711	59674362	T T	TCCCCTTC others(224): Show TCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCC TTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC CCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCT CCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCCCCTTCTCCTGTTCCTTC CCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02055.hp2 HG02258.hp2 others(2): Show HG01928.hp2 HG02055.hp2 HG02258.hp2 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0037 a0001c0001t0006g0069 a0001c0001t0011g0021 others(2): Show a0001c0001t0001g0037 a0001c0001t0006g0069 a0001c0001t0011g0021 a0001c0001t0011g0066 a0001c0001t0012g0006	5	250	0.0200	231	c.119 others(250): Show c.119-68646_119-68645insCCCCTTCTCCTGTCCCCCCTTCTCCT GTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCC TGTTCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTTCCCCTTCTC CTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCT GTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCC TGTCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(224): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	237	0.0042	231	c.537 others(248): Show c.537+2599_537+2600insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCC CCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PKP3_chr11_389209_409908	398113	T T	TGTCACCT others(224): Show TGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC ACATCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGTGTCACCTCCGTACCCCCGCACACACCTGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0093 a0001c0008t0001g0093	1	216	0.0046	231	c.106 others(248): Show c.1068+501_1068+502insCATCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGTGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8661953	A A	AATTATAT others(224): Show AATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTA TTATATAATTATATATAATTATATAATTATTTATTATATAATTATATATA ATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTAT TATATAATTATATATAATTATATAATTATTTATTATATAATTATATATAA TTATATAATTATTTATTATATAATTATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0080 a0001c0009t0007g0080	1	106	0.0094	231	c.862 others(248): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATTATTATATAATTATTT ATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATAT AAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(224): Show TTTATATATAATATATAATATATATTATATAAAAATATATTATATATAAT ATAATATATATTATATATAATATATATTTATATATAATATATATTATATA TAAAAATATATTTATATATATTATATTATATATAATATATTATATATATT ATATATAATATATTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	286	0.0035	231	c.-50 others(242): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATAATATATATAAATATATTTTTATA TATAATATATATTATATATAAATATATATTATATATAATATATATTATAT TATATATAATATATTTTTATATAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
POU6F2_chr7_38972909_39473601	39450776	T T	TAAAATCC others(224): Show TAAAATCCTTTAGCTCAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	170	0.0059	231	c.132 others(248): Show c.1321-743_1321-742insCAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTTA GCT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRDM15_chr21_41793225_41884344	41845132	G G	GACACACA others(224): Show GACACACACACACAGCCCCTCCCCCCTCACAGGGACACACACAGCCCCTC CCCCCTCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACACAG CCCCTCCCCCCTCGCAGGGACACACAGCCCCTCCCCCTCACAGGGACACA CAGCCCCTCCCCCTCACAGGGACACACAGCCCCTCCCCCTCACAGGGACA CACACACACAGCCCCTCCCCCCTCACAGGGAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG01255.hp1 others(10): Show HG00738.hp1 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG02135.hp2 HG02886.hp1 NA18952.hp1 NA18960.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19067.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 others(1): Show a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 a0001c0017t0001	a0001c0005t0002g0274 a0001c0005t0006g0135 a0001c0005t0007g0172 others(10): Show a0001c0005t0002g0274 a0001c0005t0006g0135 a0001c0005t0007g0172 a0001c0005t0007g0174 a0001c0005t0007g0269 a0001c0005t0007g0284 a0001c0005t0007g0285 a0001c0005t0007g0393 a0001c0005t0007g0395 a0001c0005t0007g0396 a0001c0017t0001g0273 a0001c0017t0001g0276 a0001c0017t0001g0278	13	406	0.0320	231	c.640 others(248): Show c.640+1957_640+1958insGTCCCTGTGAGGGGGGAGGGGCTGTGTG TGTGTGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGTGAGGGGGAGGG GCTGTGTGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGCGAGGGGGGA GGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTCCCTGTGAG GGGGGAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTGTG TGT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3168303	T T	TGCCTCCC others(224): Show TGCCTCCCAGCGCCTCTGTGGCATCGCCCCCGCTCCTGCCATCCTCCCGC CCCACCCCTGCCTCCCAGCGCCTCTGTGGCATCGCCCCCGCTCCTGCCAT CCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGGCATCGCCCCCGCT CCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGGCATCG CCCCCGCTCCTGCCATCCTCCCGCCCCACCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0063 a0001c0004t0007g0063	1	210	0.0048	231	c.38- others(248): Show c.38-17813_38-17812insCGCCTCTGTGGCATCGCCCCCGCTCCTG CCATCCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGGCATCGCCCC CGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGGC ATCGCCCCCGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAGCGCC TCTGTGGCATCGCCCCCGCTCCTGCCATCCTCCCGCCCCACCCCGCCTCC CAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(224): Show TATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTACCCATCTA TCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATC CACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0082 a0001c0001t0011 a0001c0001t0082	a0001c0001t0011g0022 a0001c0001t0082g0067 a0001c0001t0011g0022 a0001c0001t0082g0067	2	210	0.0095	231	c.38- others(246): Show c.38-9946_38-9945insCATCCATCCATTTACCCATCTATCCCCTCA TCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACCATCT GTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCATTGAT TCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGCACTC ATTCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT C	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(224): Show TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCA TCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATT CATCCACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0141 a0001c0002t0005g0141	1	210	0.0048	231	c.38- others(246): Show c.38-9835_38-9834insCATCCATCCACCCATTGATTCACCTACCCA TCCATTCATCCATTCCTTCATTAACCCATCCATGCACTCATTCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATTTACCCATCTATCCCCTCATCTATCCACCAAGCCATTCATCCACC TATCTATGCATTCATCCACCATCTGTCCATCCATCCATCCATCCATCCAT C	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(224): Show TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCA TCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATT CATCCACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCC ATCCATGCACTCATTCATCTATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG00738.hp1 others(56): Show HG00408.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp2 HG01123.hp2 HG01255.hp2 HG01346.hp1 HG02055.hp1 HG02074.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18970.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19030.hp2 NA19067.hp1 NA19067.hp2 NA19085.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0016 a0001c0025 a0001c0029 a0002c0003 a0002c0007 a0003c0005 a0004c0010 a0005c0018 a0008c0027	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(44): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0033 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0056 a0001c0001t0077 a0001c0001t0086 a0001c0001t0088 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0001c0002t0071 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0025 a0001c0004t0029 a0001c0004t0055 a0001c0006t0011 a0001c0006t0024 a0001c0006t0039 a0001c0008t0001 a0001c0008t0040 a0001c0008t0085 a0001c0013t0001 a0001c0013t0041 a0001c0016t0020 a0001c0025t0044 a0001c0029t0065 a0002c0003t0001 a0002c0003t0004 a0002c0003t0059 a0002c0007t0001 a0002c0007t0024 a0003c0005t0001 a0004c0010t0026 a0005c0018t0012 a0008c0027t0078	a0001c0001t0001g0006 a0001c0001t0001g0150 a0001c0001t0001g0165 others(56): Show a0001c0001t0001g0006 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0007g0054 a0001c0001t0008g0064 a0001c0001t0008g0097 a0001c0001t0014g0069 a0001c0001t0019g0101 a0001c0001t0020g0105 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0028g0111 a0001c0001t0033g0197 a0001c0001t0042g0124 a0001c0001t0043g0060 a0001c0001t0045g0024 a0001c0001t0046g0042 a0001c0001t0056g0204 a0001c0001t0077g0036 a0001c0001t0086g0033 a0001c0001t0088g0090 a0001c0002t0001g0114 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0018g0198 a0001c0002t0071g0099 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0007g0071 a0001c0004t0010g0174 a0001c0004t0025g0205 a0001c0004t0029g0044 a0001c0004t0055g0004 a0001c0006t0011g0039 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0040g0021 a0001c0008t0085g0003 a0001c0013t0001g0104 a0001c0013t0041g0025 a0001c0016t0020g0108 a0001c0025t0044g0109 a0001c0029t0065g0131 a0002c0003t0001g0142 a0002c0003t0004g0068 a0002c0003t0059g0037 a0002c0007t0001g0001 a0002c0007t0024g0070 a0003c0005t0001g0171 a0004c0010t0026g0122 a0004c0010t0026g0207 a0005c0018t0012g0030 a0008c0027t0078g0082	59	210	0.2810	231	c.38- others(246): Show c.38-9835_38-9834insCATCCATCCATCCACCCATTGATTCACCTA CCCATCCATTCATCCATTCCTTCATTAACCCATCCATGCACTCATTCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATTTACCCATCTATCCCCTCATCTATCCACCAAGCCATTCATCCACC TATCTATGCATTCATCCACCATCTGTCCATCCATCCATCCATCCATCCAT C	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(224): Show TATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCATCTA TCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATC CACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	210	0.0048	231	c.38- others(246): Show c.38-9950_38-9949insTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAT TGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGC ACTCATTCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT C	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCA_chr17_66297613_66815743	66798803	G G	GTGGTGAT others(224): Show GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0077 a0001c0003t0018g0077	1	178	0.0056	231	c.185 others(250): Show c.1855-5065_1855-5064insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTAATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122912	C C	CGGCTGTA others(224): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTC ATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTATAGTTGGGGTCAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	286	0.0035	231	c.335 others(250): Show c.335-12348_335-12347insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123278	G G	GTTAGGTT others(224): Show GTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGT GGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGTGGTACTTAAGGTCATGGTGGTAGTTAGGGTTATGGTAGTTAGGGTC ATGGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCTGTAGTTAG GGTGACGGTGGTAGTTAAGGTCACAGCAGTAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	231	c.335 others(250): Show c.335-11979_335-11978insTTCATGGTGGTAGTTAGGGTCACGGC TATAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGTGGTACTTAAGGTCATGGTGGTAGTTAGG GTTATGGTAGTTAGGGTCATGGCAGTAGTTAGGGTTATATCAGTAGTTAG GGCTATGGCTGTAGTTAGGGTGACGGTGGTAGTTAAGGTCACAGCAGTAA TTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CGGCTGTA others(224): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01517.hp1 HG02698.hp2 HG00099.hp2 HG01517.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0008 a0001c0002 a0001c0003 a0002c0008	a0001c0002t0001 a0001c0003t0001 a0002c0008t0001 a0001c0002t0001 a0001c0003t0001 a0002c0008t0001	a0001c0002t0001g0205 a0001c0003t0001g0274 a0002c0008t0001g0282 a0001c0002t0001g0205 a0001c0003t0001g0274 a0002c0008t0001g0282	3	286	0.0105	231	c.335 others(250): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124210	T T	TGTAGTTA others(224): Show TGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18968.hp2 NA18943.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0057 a0001c0001t0012g0058 a0001c0001t0001g0057 a0001c0001t0012g0058	2	286	0.0070	231	c.335 others(250): Show c.335-11044_335-11043insGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATG GTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(224): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	227	0.0044	231	c.23 others(242): Show c.2337_*2338insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCT CTGTCCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PTK6_chr20_63523001_63542376	63535841	C C	CCTCACCT others(224): Show CCTCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTC ACCTGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGC CTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCC CGCCCCCCCCCTCACCTGGCCTCCCGCCCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	344	0.0029	231	c.231 others(246): Show c.231-783_231-782insAGGGGGCGGGAGGCCAGGTGAGGGGGGGGG CGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGG AGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGAGAGGAGGGGGCGGGAGG CCAGGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAG GTGAGGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGA G	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(224): Show GTATATTATATATTTTATATATAATATATTTTGTATATTATATATTTTAT ATATAATATATTTTGTATATTATATATTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA TATATTTTATATATAATATATTTTGTATATTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03225.hp2 NA18945.hp2 others(4): Show HG00621.hp2 HG03225.hp2 NA18945.hp2 NA19011.hp2 NA19057.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356	7	356	0.0197	231	c.-12 others(252): Show c.-128-12788_-128-12787insTTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA TATATTTTATATATAATATATTTTGTATATTATATATTTTATATATAATA TATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTATATA TTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRT_chr20_42067756_43194906	42508951	T T	TATTTAAT others(224): Show TATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATA TAAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTAC ATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATAT AAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTACA TTTAATTTATAGATATAAATTATATAATTTAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0005 a0002c0004t0002g0005	1	62	0.0161	231	c.115 others(252): Show c.1154-36390_1154-36389insGTAAATTATATAATTTATATCTAT AAATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTA TATAATTTATATCTATAAATTAAATGTAAATTATATAATTTATATCTATA AATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTAT ATAATTTATATCTATAAATTAAATGTAAATTATATAATTTATATCTATAA ATTAAAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993453	T T	TATATATA others(224): Show TATATATACACATATATATATGTGTATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATATA CACATATATATGTGTGTGTATATATATATATACACATATATATAGTGTGT GTATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTAT ATATATACATATGTGTGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0039	1	62	0.0161	231	c.89- others(250): Show c.89-107522_89-107521insGTATATATATACACACACACATATGT ATATATATACACACACATATATGTATATATATACACAAATATATGTATAT ATATACACACACTATATATATGTGTATATATATATATACACACACATATA TATGTGTATATATATATACACACACATATATATGTGTATATATATATACA TACACATATATATGTGTATGTATATATATATACACATATATATATGTGTA TATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PUS7_chr7_105451503_105527271	105520478	T T	TGCTGTGC others(224): Show TGCTGTGCAAGCTGAAATTCGAGCCCTCCTCGTCAGCCCTGCGCAGAGGT GTTTAGAAGCACACCTTCGTTGCCTGCCGAGTAGGGTTGGCAAAGAGTTT AGTTTTTCAAATATTTGGTCCCGTCAGACTACTTTTTTTTTCCATTCCAA AAATAAAGGGTTACTAAGGTTCCCCCCCATCCCCAAGCCTCTAATCATCT ATGAAATGACTATGCCCCATTGGCCTGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00735.hp2 others(24): Show HG00099.hp2 HG00423.hp2 HG00735.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02630.hp1 HG02683.hp2 HG03491.hp2 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 others(24): Show a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0016g0311	27	350	0.0771	231	c.-33 others(248): Show c.-33+1573_-33+1574insTCCCCCAGGCCAATGGGGCATAGTCATT TCATAGATGATTAGAGGCTTGGGGATGGGGGGGAACCTTAGTAACCCTTT ATTTTTGGAATGGAAAAAAAAAGTAGTCTGACGGGACCAAATATTTGAAA AACTAAACTCTTTGCCAACCCTACTCGGCAGGCAACGAAGGTGTGCTTCT AAACACCTCTGCGCAGGGCTGACGAGGAGGGCTCGAATTTCAGCTTGCAC AGC	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105520478	T T	TGCTGTGC others(224): Show TGCTGTGCAAGCTGAAATTCGAGCCCTCCTCGTCAGCCCTGCGCAGAGGT GTTTAGAAGCACACCTTCGTTGCCTGCCGAGTAGGGTTGGCAAAGAGTTT AGTTTTTCAAATATTTGGTCCCGTCAGGCTACTTTTTTTTTCCATTCCAA AAATAAAGGGTTACTAAGGTTCCCCCCCATCCCCAAGCCTCTAATCATCT ATGAAATGACTATGCCCCATTGGCCTGGGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03710.hp1 HG01069.hp1 HG01071.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302	3	350	0.0086	231	c.-33 others(248): Show c.-33+1573_-33+1574insTCCCCCAGGCCAATGGGGCATAGTCATT TCATAGATGATTAGAGGCTTGGGGATGGGGGGGAACCTTAGTAACCCTTT ATTTTTGGAATGGAAAAAAAAAGTAGCCTGACGGGACCAAATATTTGAAA AACTAAACTCTTTGCCAACCCTACTCGGCAGGCAACGAAGGTGTGCTTCT AAACACCTCTGCGCAGGGCTGACGAGGAGGGCTCGAATTTCAGCTTGCAC AGC	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(224): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACAAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03492.hp2 HG03654.hp1 others(6): Show HG02698.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG04204.hp1 HG04228.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0004 a0001c0002t0077 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0077 a0001c0002t0085 a0001c0007t0003	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 others(6): Show a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0111 a0001c0002t0004g0068 a0001c0002t0077g0070 a0001c0002t0085g0071 a0001c0007t0003g0158	9	392	0.0230	231	c.329 others(248): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT TGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(224): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02723.hp1 NA18962.hp1 others(2): Show HG00099.hp2 HG02723.hp1 NA18962.hp1 NA18971.hp1 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0009 a0001c0002t0001 a0001c0006t0009	a0001c0002t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0179 others(1): Show a0001c0002t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0179 a0001c0006t0009g0166	5	392	0.0128	231	c.329 others(248): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT TGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(224): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACAAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp2 HG02300.hp1 HG01943.hp2 HG02004.hp2 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0087 a0001c0002t0001g0012 a0001c0002t0001g0087	3	392	0.0077	231	c.329 others(248): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar

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