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
NAALADL2_chr3_174854334_175815548	175013099	T T	TATGTAAT others(98): Show TATGTAATATATATTTATATATAAATATGTAATATATATTTATATATAAA TATGTAATATATATTTATATATAAATATGTATTATATATTTATATATAAA TATGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG01109.hp1 HG02451.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0003c0004 a0002c0007 a0003c0004	a0002c0007t0024 a0003c0004t0033 a0002c0007t0024 a0003c0004t0033	a0002c0007t0024g0049 a0003c0004t0033g0022 a0002c0007t0024g0049 a0003c0004t0033g0022	2	64	0.0313	105	c.44- others(122): Show c.44-83689_44-83688insGTAATATATATTTATATATAAATATGTA ATATATATTTATATATAAATATGTAATATATATTTATATATAAATATGTA TTATATATTTATATATAAATATGTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175013100	A A	ATGTAATA others(98): Show ATGTAATATATATTTATATATAAATATGTAATATATATTTATATATAAAT ATGTAATATATATTTATATATAAATATGTAATATATATTTATATATAAAT ATGTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp2 HG02109.hp2 others(1): Show HG01255.hp1 HG01978.hp2 HG02109.hp2 HG02300.hp1	a0004 a0005 a0006 others(1): Show a0004 a0005 a0006 a0007	a0004c0008 a0005c0011 a0006c0010 others(1): Show a0004c0008 a0005c0011 a0006c0010 a0007c0012	a0004c0008t0002 a0005c0011t0001 a0006c0010t0009 others(1): Show a0004c0008t0002 a0005c0011t0001 a0006c0010t0009 a0007c0012t0029	a0004c0008t0002g0062 a0005c0011t0001g0053 a0006c0010t0009g0054 others(1): Show a0004c0008t0002g0062 a0005c0011t0001g0053 a0006c0010t0009g0054 a0007c0012t0029g0024	4	64	0.0625	105	c.44- others(122): Show c.44-83689_44-83688insGTAATATATATTTATATATAAATATGTA ATATATATTTATATATAAATATGTAATATATATTTATATATAAATATGTA ATATATATTTATATATAAATATGTATT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NBAS_chr2_15161916_15566334	15428915	T T	TGCCTCCC others(98): Show TGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAG GAGGCAGAGCTCACAGTGAGCTCAGATCGTGCCACTGTACTTCAGCCTGG GTGACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp2 HG03453.hp2 HG00639.hp1 HG02922.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0010 a0001c0001 a0003c0005 a0003c0010	a0001c0001t0001 a0003c0005t0001 a0003c0010t0001 a0001c0001t0001 a0003c0005t0001 a0003c0010t0001	a0001c0001t0001g0098 a0003c0005t0001g0099 a0003c0010t0001g0097 a0001c0001t0001g0098 a0003c0005t0001g0099 a0003c0010t0001g0097	3	224	0.0134	105	c.234 others(124): Show c.2340-1226_2340-1122dupTGTCACCCAGGCTGAAGTACAGTGGC ACGATCTGAGCTCACTGTGAGCTCTGCCTCCTGGGTTCACACCATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGAGGC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	21/51			chr2	TogoVar
NCOR1_chr17_16024157_16220534	16095666	G G	GGGGGGTC others(98): Show GGGGGGTCAGCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGA GGTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02615.hp1 HG02809.hp2 others(1): Show HG01192.hp2 HG02615.hp1 HG02809.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042	4	282	0.0142	105	c.282 others(124): Show c.2820+2700_2820+2701insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGCTGACCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(98): Show GGGGGTCAGCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGG AGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18949.hp2 NA18999.hp2 HG00408.hp1 NA18949.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0180 a0001c0001t0002g0201 a0001c0001t0002g0202	3	282	0.0106	105	c.282 others(124): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(98): Show GGGGGTCAGCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGA GGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01884.hp2 others(10): Show HG00741.hp1 HG01243.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02735.hp1 HG03704.hp2 HG04204.hp1 NA18956.hp1 NA18988.hp1 NA19064.hp2 NA20300.hp2 NA20905.hp2	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0010c0024 a0013c0018 a0001c0001 a0010c0024 a0013c0018	a0001c0001t0002 a0001c0001t0027 a0010c0024t0002 others(1): Show a0001c0001t0002 a0001c0001t0027 a0010c0024t0002 a0013c0018t0002	a0001c0001t0002g0024 a0001c0001t0002g0187 a0001c0001t0002g0204 others(10): Show a0001c0001t0002g0024 a0001c0001t0002g0187 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0250 a0001c0001t0027g0232 a0010c0024t0002g0245 a0013c0018t0002g0234	13	282	0.0461	105	c.282 others(124): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(98): Show GGGGGTCAGCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAG GTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCAGGAG GGAGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	282	0.0036	105	c.282 others(124): Show c.2820+2699_2820+2700insACCTCCCTCCTGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NEU4_chr2_241804193_241822413	241806119	T T	TCCCCCCT others(98): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	319	0.0031	105	c.-31 others(116): Show c.-3159_-3158insCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3073		chr2	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(98): Show TTATATATATATATATATATATATATGTATATAATTATATAGGATTATAT GTAGGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATA TACATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0227	1	252	0.0040	105	c.600 others(122): Show c.6006+265_6006+266insTATGTATATAATTATATAGGATTATATG TAGGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATAT ACATATATATATATATATATATATATA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(98): Show TTATATATATATATATATATATATGTATATAATTATATAGGATTATATGT AGGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATA CATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG03471.hp2 others(2): Show HG01891.hp2 HG02109.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 others(2): Show a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0027g0148	5	252	0.0198	105	c.600 others(122): Show c.6006+265_6006+266insTGTATATAATTATATAGGATTATATGTA GGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATAC ATATATATATATATATATATATATATA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(98): Show TTATATATATATATATATATATGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01255.hp2 HG01346.hp2 others(22): Show HG01070.hp2 HG01255.hp2 HG01346.hp2 HG01952.hp2 HG02080.hp2 HG02129.hp2 HG02523.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp2 NA18962.hp1 NA18979.hp1 NA18985.hp1 NA18992.hp1 NA18998.hp2 NA19006.hp2 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19082.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0024 a0002c0006 others(1): Show a0001c0001 a0001c0024 a0002c0006 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0024t0007 a0002c0006t0001 a0007c0014t0029	a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0056 others(22): Show a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0003g0038 a0001c0001t0007g0047 a0001c0001t0007g0079 a0001c0001t0018g0114 a0001c0024t0007g0012 a0002c0006t0001g0055 a0002c0006t0001g0069 a0002c0006t0001g0117 a0007c0014t0029g0252	25	252	0.0992	105	c.600 others(122): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(98): Show TTATATATATATATATATGTATATAATTATATAGGATTATATGTAGGATT ATATTTATAATATAATCCTACATATAATCCTATATAATTATATACATATA TATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	252	0.0040	105	c.600 others(122): Show c.6006+260_6006+261insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTTTATAT others(98): Show TTTTATATATATATATATATATGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0089 a0005c0020t0001g0089	1	252	0.0040	105	c.600 others(122): Show c.6006+244_6006+245insTTATATATATATATATATATGTATATAA TTATATAGGATTATATGTAGGATTATATTTATAATATAATCCTACATATA ATCCTATATAATTATATACATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335290	A A	ATATATGT others(98): Show ATATATGTATATAATTATATAGGATTATATGTAGGATTATATTTATAATA TAATCCTACATATAATCCTATATAATTATATACATATATATATATATATA TATATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	252	0.0040	105	c.600 others(122): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATGTATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAA others(98): Show AAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18961.hp1 NA18962.hp1 others(1): Show NA18956.hp2 NA18961.hp1 NA18962.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122	4	128	0.0313	105	c.473 others(124): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NOC4L_chr12_132139457_132157468	132156783	C C	CACCACTA others(98): Show CACCACTACACACTACACACACACCACTACACACACACAACACACAACCA CTATACACACACTACACACACCACTACACGCACACACTACACACACTACA CACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	294	0.0034	105	c.43 others(116): Show c.4382_*4383insACCACTACACACTACACACACACCACTACACACA CACAACACACAACCACTATACACACACTACACACACCACTACACGCACAC ACTACACACACTACACACACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4316		chr12	TogoVar
NOX1_chrX_100838324_100879359	100853337	T T	TCTTTCTT others(98): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTCTTCCTTCCTTCCTTCCTTGCTTTCTTCCTTGCG TCCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	302	0.0066	105	c.805 others(122): Show c.805-2013_805-2012insGAAGGACGCAAGGAAGAAAGCAAGGAAG GAAGGAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAG	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NRBF2_chr10_63128328_63160024	63133977	T T	TCACTTCC others(98): Show TCACTTCCCCCTCCTCACCCTCCACTTCCCCCTCCTCACCCTCCACTTCC CCCTCCTCACCCTCCACTTCCCCCTCCTCACCCTCCACTTCCCCCTCCTC ACCCTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18960.hp2 NA19000.hp2 others(3): Show NA18947.hp1 NA18960.hp2 NA19000.hp2 NA19004.hp2 NA19068.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 others(3): Show a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254	6	392	0.0153	105	c.30+ others(118): Show c.30+531_30+532insCTCACCCTCCACTTCCCCCTCCTCACCCTCCA CTTCCCCCTCCTCACCCTCCACTTCCCCCTCCTCACCCTCCACTTCCCCC TCCTCACCCTCCACTTCCCCCTC	NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRF1_chr7_129606720_129762076	129749307	A A	AGGGGGGG others(98): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0162	1	384	0.0026	105	c.134 others(124): Show c.1349-5711_1349-5710insGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	10/10			chr7	TogoVar
NRROS_chr3_196634694_196667004	196634750	T T	TAGAGAAG others(98): Show TAGAGAAGTGGAGGCTGGAGAAGTGGAGGCTGGAGAAGTGGGGACTGGGA GAAGTGGGGGCTAGAGAAGTGGGGGCTAGAGAAGTGGAGGCTGGAGAAGT GGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	472	0.0021	105	c.-51 others(116): Show c.-5139_-5138insAGAGAAGTGGAGGCTGGAGAAGTGGAGGCTGGAG AAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTAGAGAAGT GGAGGCTGGAGAAGTGGGGGC	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4943		chr3	TogoVar
NTRK2_chr9_84664729_85032054	84797660	T T	TTATATAT others(98): Show TTATATATTATATATACTATAATATATATATTATATATACTATAATAATA TATATATTATATATTATATATACTATAATATATATATTATATATACTATA ATAATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01256.hp1 others(13): Show HG01106.hp2 HG01123.hp1 HG01256.hp1 HG02630.hp1 HG02647.hp2 HG03098.hp1 HG04228.hp2 NA18939.hp1 NA18947.hp2 NA18950.hp2 NA18977.hp1 NA18984.hp1 NA18999.hp2 NA19010.hp1 NA19077.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0031 a0001c0001t0035 a0001c0001t0041 a0001c0002t0002	a0001c0001t0001g0047 a0001c0001t0002g0035 a0001c0001t0002g0056 others(13): Show a0001c0001t0001g0047 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0140 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0005g0050 a0001c0001t0005g0058 a0001c0001t0008g0162 a0001c0001t0012g0060 a0001c0001t0017g0052 a0001c0001t0031g0059 a0001c0001t0035g0062 a0001c0001t0041g0127 a0001c0002t0002g0057	16	170	0.0941	105	c.139 others(126): Show c.1396+45589_1396+45590insACTATAATATATATATTATATATA CTATAATAATATATATATTATATATTATATATACTATAATATATATATTA TATATACTATAATAATATATATATTATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NWD1_chr19_16714847_16822953	16738003	A A	AAGAAAAG others(98): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGAAAAGAAAAGAA GAAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0002 a0017c0026t0002	a0017c0026t0002g0083 a0017c0026t0002g0083	1	300	0.0033	105	c.198 others(122): Show c.198+1263_198+1264insAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAAAAGA AAAGAAAAGAAGAAAAGAGAAAAGAAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
ODF3L2_chr19_458361_479983	458609	C C	CGGGGAGG others(98): Show CGGGGAGGCGGACGCGGGTTCCGCGGAGGCGGAAGCCGGTCTTGGGGAGG CGGAAGTGGGTTCCGGGGAGGGGGAAGCGGGTTCCGGGGAGGCGGAAGCG GGTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG03139.hp1 others(3): Show HG02818.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1	a0002 a0006 a0002 a0006	a0002c0012 a0006c0010 a0002c0012 a0006c0010	a0002c0012t0002 a0006c0010t0004 a0002c0012t0002 a0006c0010t0004	a0002c0012t0002g0175 a0002c0012t0002g0176 a0006c0010t0004g0058 others(3): Show a0002c0012t0002g0175 a0002c0012t0002g0176 a0006c0010t0004g0058 a0006c0010t0004g0060 a0006c0010t0004g0168 a0006c0010t0004g0171	6	324	0.0185	105	c.52 others(116): Show c.5234_*5235insAAGACCCGCTTCCGCCTCCCCGGAACCCGCTTCC CCCTCCCCGGAACCCACTTCCGCCTCCCCAAGACCGGCTTCCGCCTCCGC GGAACCCGCGTCCGCCTCCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4751		chr19	TogoVar
OLFM1_chr9_135082668_135126180	135093284	C C	CCGTTCTC others(98): Show CCGTTCTCTTTGAAGAAGCACTTGGCTCTGGGTTTGAGGTAGTTCCATGC AGCTAGGGTCGAGCACTGTAGGGACACAGATAGTGGCAGGCGTGTGGGCA CGGGCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0256 a0001c0002t0003g0256	1	360	0.0028	105	c.301 others(122): Show c.301-2543_301-2542insGTAGTTCCATGCAGCTAGGGTCGAGCAC TGTAGGGACACAGATAGTGGCAGGCGTGTGGGCACGGGCTCGTTCTCTTT GAAGAAGCACTTGGCTCTGGGTTTGAG	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OPCML_chr11_132409981_133537501	133140934	A A	AGAAGAAG others(98): Show AGAAGAAGACGAAGAAGACGACGAAGAAGAAGAAGAAGAAGACGAAGAAG ACGAAGACGAAGAAGACGAAGAAGACGAAGAAGACGAAGACGAAGAAGAC GAAGAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	68	0.0147	105	c.62- others(124): Show c.62-197925_62-197924insGTCTTCGTCTTCTTCGTCTTCGTCTT CTTCGTCTTCTTCGTCTTCTTCGTCTTCGTCTTCTTCGTCTTCTTCTTCT TCTTCTTCGTCGTCTTCTTCGTCTTCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRL1_chr20_64075082_64105633	64094358	G G	GGCAGTGT others(98): Show GGCAGTGTGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAG TGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGTCAGTGTGGGGGCAGTGT GTGGGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	66	0.0152	105	c.233 others(122): Show c.233+1405_233+1406insGCAGTGTGGGGGCAGTGTGGGGGCAGTG TGGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGG GGGTCAGTGTGGGGGCAGTGTGTGGGT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4			chr20	TogoVar
OPTN_chr10_13095163_13143308	13115422	A A	ATATATAA others(98): Show ATATATAATATAGAATATATATAATATATTCTATATTATATAATATAGAA TATATATAATATATTCTATATTATATAATATAGAATATATATAATATATT CTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01070.hp1 others(10): Show HG00099.hp1 HG00642.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0008 a0001c0001t0001 a0001c0001t0004 a0002c0003t0008	a0001c0001t0001g0006 a0001c0001t0001g0172 a0001c0001t0001g0191 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0004g0193 a0001c0001t0004g0194 a0002c0003t0008g0220 a0002c0003t0008g0221	13	418	0.0311	105	c.553 others(120): Show c.553-741_553-740insTTATATAATATAGAATATATATAATATATT CTATATTATATAATATAGAATATATATAATATATTCTATATTATATAATA TAGAATATATATAATATATTCTATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115470	A A	AATATATA others(98): Show AATATATATAATATATTCTATATTATATAATATAGGATATATATAATATA TTCTATATTATATAATATAGAATATATATAATATATTCTATATTATATAA TATAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	418	0.0024	105	c.553 others(120): Show c.553-763_553-762insGATATATATAATATATTCTATATTATATAA TATAGAATATATATAATATATTCTATATTATATAATATAGGATATATATA ATATATTCTATATTATATAATATAG	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR10R2_chr1_158467220_158485936	158473904	T T	TCTGCTTC others(98): Show TCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTC CCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTT CCCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0066 a0007c0006t0001g0066	1	446	0.0022	105	c.27+ others(120): Show c.27+1565_27+1566insCCCTCCTTCCCTCTTTCCCTCTCTGCTTCC TTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCC CTCTTTCCCTCCCTGCTTCCTTCCT	OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306505	C C	CCCTGAGG others(98): Show CCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCCTGAGGACTGGA GCCGCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTG GAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01934.hp2 HG01975.hp1 others(3): Show HG00140.hp1 HG01934.hp2 HG01975.hp1 NA18962.hp2 NA19000.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0031 a0001c0001 a0002c0002 a0002c0031	a0001c0001t0001 a0002c0002t0002 a0002c0031t0002 a0001c0001t0001 a0002c0002t0002 a0002c0031t0002	a0001c0001t0001g0108 a0001c0001t0001g0121 a0002c0002t0002g0002 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0121 a0002c0002t0002g0002 a0002c0031t0002g0074	6	406	0.0148	105	c.-33 others(116): Show c.-3350_-3349insCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG GGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCTGTCCTC AGGGCGGCTCCTGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3082		chr1	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(98): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATA TTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	402	0.0025	105	c.35 others(116): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATATTTATT	OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding		3515		chr11	TogoVar
OR5D18_chr11_55814630_55825571	55823223	A A	ATATATAT others(98): Show ATATATATATAATGTATACATTATGTATAAACTCATACACAATAGCCAGT AGGTAAAGGATATATATATACACACACATATATGTGTGTGTGTGTATGTG TGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02559.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02559.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	434	0.0092	105	c.26 others(116): Show c.2652_*2653insTATATATATAATGTATACATTATGTATAAACTCA TACACAATAGCCAGTAGGTAAAGGATATATATATACACACACATATATGT GTGTGTGTGTATGTGTGTGTG	OR5D18	ENSG00000186119.9	transcript	ENST00000333976.7	protein_coding		2653		chr11	TogoVar
OR5L2_chr11_55822219_55833154	55823223	A A	ATATATAT others(98): Show ATATATATATAATGTATACATTATGTATAAACTCATACACAATAGCCAGT AGGTAAAGGATATATATATACACACACATATATGTGTGTGTGTGTATGTG TGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02559.hp2 others(1): Show HG01884.hp1 HG02055.hp1 HG02559.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	4	448	0.0089	105	c.-39 others(116): Show c.-3996_-3995insTATATATATAATGTATACATTATGTATAAACTCA TACACAATAGCCAGTAGGTAAAGGATATATATATACACACACATATATGT GTGTGTGTGTATGTGTGTGTG	OR5L2	ENSG00000205030.1	transcript	ENST00000378397.1	protein_coding		3995		chr11	TogoVar
OR8K5_chr11_56154394_56165317	56164368	C C	CCTATTTT others(98): Show CCTATTTTCTGAGATAACACCACTGTTGGATAAAGTTTAGTACAACCTTA TCAAGAGTAAGATCTACTGAAGATAGTACACACCATCTCCCATGGTGTGA AAGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	436	0.0023	105	c.-40 others(116): Show c.-4052_-4051insCAACTTTCACACCATGGGAGATGGTGTGTACTAT CTTCAGTAGATCTTACTCTTGATAAGGTTGTACTAAACTTTATCCAACAG TGGTGTTATCTCAGAAAATAG	OR8K5	ENSG00000181752.3	transcript	ENST00000313447.1	protein_coding		4052		chr11	TogoVar
P4HA2_chr5_132185147_132232853	132208400	G G	GAGGAGGG others(98): Show GAGGAGGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	426	0.0024	105	c.904 others(120): Show c.904-517_904-516insTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCCCTCCT	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PABPN1L_chr16_88858333_88871660	88859980	C C	CTACTTTC others(98): Show CTACTTTCTGTGTCTGCATCCAGTCCAGGTGGGCCTTACTTTCTGTGTCT GCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCTGCATCCAGTCCAGGT GGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0069 a0001c0017t0002g0069	1	452	0.0022	105	c.37 others(116): Show c.3775_*3776insAGGCCCACCTGGACTGGATGCAGACACAGAAAGT AGGGCCCACCTGGACTGGATGCAGACACAGAAAGTAAGGCCCACCTGGAC TGGATGCAGACACAGAAAGTA	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding		3352		chr16	TogoVar
PALM_chr19_703935_753329	735513	T T	TGTGTCTG others(98): Show TGTGTCTGGGGGCCCAGGTGCCTGTCTGGATGTCTGGGGGCCCAGGTGCC TGTGTCCGGGTGTCTGGGTGGGATCCGTGTGTCTGAGGGCCCAGGTGCCT GTCTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp2 HG02886.hp2 others(5): Show HG02055.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0006	a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0262 others(4): Show a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0361 a0001c0002t0002g0365 a0001c0003t0006g0241	8	404	0.0198	105	c.443 others(120): Show c.443-499_443-498insGGGGCCCAGGTGCCTGTCTGGATGTCTGGG GGCCCAGGTGCCTGTGTCCGGGTGTCTGGGTGGGATCCGTGTGTCTGAGG GCCCAGGTGCCTGTCTGGGTGTCTG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PARD3_chr10_34104561_34820296	34605950	A A	ATATATAT others(98): Show ATATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATA TATATCTCTCCTATATATATATCTCCTATATATATCTCTCCTATATATAT ATCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0096 a0001c0002t0009g0096	1	100	0.0100	105	c.223 others(124): Show c.223-88792_223-88791insGGAGATATATATATAGGAGAGATATA TATAGGAGATATATATATAGGAGAGATATATATAGGAGATATATATATAG GAGATATATATATATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGCG others(98): Show GGGGGGCGGGGGGTCAGCTGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCG GGGGGGCGGGGGGCGGCGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCG GGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG03195.hp1 others(3): Show HG01884.hp2 HG02809.hp1 HG03195.hp1 HG03453.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0175 a0001c0002t0002g0174 a0001c0002t0002g0178 others(3): Show a0001c0001t0001g0175 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0205 a0001c0002t0003g0182	6	221	0.0272	105	c.-95 others(114): Show c.-958_-957insGGGGGCGGGGGGTCAGCTGGGGCGGGGGGCGGGGGG GGCGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGCGGCGGG GGGCGGGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PCLO_chr7_82749012_83167884	82999547	A A	ATATTATA others(98): Show ATATTATATATAAAATATAAAATATATTATATATAAAATATAAAATATAA TATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAAATAT AATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG03516.hp1 HG02559.hp2 HG03195.hp2 HG03516.hp1	a0001 a0039 a0001 a0039	a0001c0003 a0001c0060 a0039c0084 a0001c0003 a0001c0060 a0039c0084	a0001c0003t0017 a0001c0060t0017 a0039c0084t0015 a0001c0003t0017 a0001c0060t0017 a0039c0084t0015	a0001c0003t0017g0115 a0001c0060t0017g0116 a0039c0084t0015g0003 a0001c0003t0017g0115 a0001c0060t0017g0116 a0039c0084t0015g0003	3	188	0.0160	105	c.330 others(126): Show c.3301-33061_3301-33060insCATATTATATTTTATATTTAATAT TACATATTATATTTTATATTTAATATTACATATTATATTTTATATTTTAT ATATAATATATTTTATATTTTATATATAATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83096963	T T	TATATTAT others(98): Show TATATTATATATTATATAAATAATATATTATATATTATATAAATAATATA TTATATATTATATAAATAATATATATTATATAAATAATATATTATATATT ATATAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0017 a0017	a0017c0044 a0017c0044	a0017c0044t0011 a0017c0044t0011	a0017c0044t0011g0036 a0017c0044t0011g0036	1	188	0.0053	105	c.330 others(126): Show c.3300+37286_3300+37287insTTATATAATATATAATATATTATT TATATAATATATATTATTTATATAATATATAATATATTATTTATATAATA TATAATATATTATTTATATAATATATAATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149786239	G G	GGGACGGG others(98): Show GGGACGGGGCGGCTGGCCGGGCGGGTGTGCTGACCCCCCCACCTCCCTCC CGGACGGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18972.hp2 NA19002.hp2 others(4): Show HG02523.hp1 NA18972.hp2 NA19002.hp2 NA19004.hp2 NA19070.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0267 others(4): Show a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0317 a0001c0001t0001g0318	7	334	0.0210	105	c.193 others(122): Show c.193-3711_193-3710insGGGGCGGCTGGCCGGGCGGGTGTGCTGA CCCCCCCACCTCCCTCCCGGACGGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGAC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCMT1_chr6_149744741_149816419	149786272	C C	CCCCCCCA others(98): Show CCCCCCCACCTCCCTCCCGGACGGGACGGGGCGGCTGGCCGGGCGGGGGT GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	334	0.0030	105	c.193 others(122): Show c.193-3676_193-3675insACCTCCCTCCCGGACGGGACGGGGCGGC TGGCCGGGCGGGGGTGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNX1_chr14_70902459_71120382	70910076	T T	TCCTCCCC others(98): Show TCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCT CCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01358.hp2 HG03710.hp1 others(1): Show HG00140.hp2 HG01358.hp2 HG03710.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0024g0051 others(1): Show a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0024g0051 a0001c0001t0024g0052	4	352	0.0114	105	c.153 others(122): Show c.153+2078_153+2079insCCCTCCTCCCCCTCCTCCCCCTCCTCCT CCTCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCTCCTCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PDIA6_chr2_10778391_10817785	10806648	A A	AAGAAGGA others(98): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAG ACAGAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01258.hp2 others(3): Show HG01099.hp2 HG01256.hp2 HG01258.hp2 HG01975.hp2 HG01981.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0236 a0001c0003t0001g0237 others(2): Show a0001c0003t0001g0019 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0243 a0001c0003t0001g0244	6	342	0.0175	105	c.20- others(120): Show c.20-4009_20-4008insGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806648	A A	AAGAAGGA others(98): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAG ACAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18945.hp1 NA19005.hp1 HG00323.hp1 NA18945.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0245 a0001c0003t0001g0020 a0001c0003t0001g0245	3	342	0.0088	105	c.20- others(120): Show c.20-4009_20-4008insGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(98): Show GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGG GGGCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	358	0.0028	105	c.143 others(120): Show c.143-497_143-496insCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741277	C C	CGCGGGGG others(98): Show CGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGG GGGCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	358	0.0028	105	c.143 others(120): Show c.143-382_143-381insCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741372	C C	CGGGGGCC others(98): Show CGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGG GGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGG CTCGCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0033 a0001c0001t0075g0033	1	358	0.0028	105	c.143 others(120): Show c.143-290_143-289insCCTCGCGGGGGGGCTCGCGGGGGGCTGGCG GGGGCCTCGCGGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGG GGGCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	585295	A A	ACCCCCAA others(98): Show ACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCA ACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0003 a0007c0028t0003	a0007c0028t0003g0110 a0007c0028t0003g0110	1	408	0.0025	105	c.22 others(116): Show c.2260_*2261insCCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGC CCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCT GCCCACCGGGTCCACCAACAC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		1187		chr16	TogoVar

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