Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NXN_chr17_794310_984776	795597	T T	TTAGCCCC others(36): Show TTAGCCCCACTTTTGCCATTCTACCACGCACAGCCCTCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	240	0.0042	43	c.53 others(54): Show c.5351_*5352insGTGTGTGAGGGCTGTGCGTGGTAGAATGGCAAAA GTGGGGCTA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding					3712		chr17	TogoVar
NXN_chr17_794310_984776	835751	C C	CCTCATAG others(36): Show CCTCATAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGTCAG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	240	0.0042	43	c.361 others(60): Show c.361-9674_361-9673insCTGACGAATCCCACCGGTGTTTTTCCCC TGCGGCCTCTATGAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	921661	A A	AGGCCCAG others(36): Show AGGCCCAGGCTCTCATCCTCACTGCCCCTGGACAACACCTGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	239	0.0042	43	c.360 others(62): Show c.360+57615_360+57657dupGGCCAGGTGTTGTCCAGGGGCAGTGA GGATGAGAGCCTGGGCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949235	T T	TCCCCCTG others(36): Show TCCCCCTGCCTCCTCCTGCTCACCCCCCTGGCCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	233	0.0043	43	c.360 others(62): Show c.360+30083_360+30084insGAGAGGAGGAGGGCCAGGGGGGTGAG CAGGAGGAGGCAGGGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OCRL_chrX_129535259_129597556	129595162	T T	TCCACAAT others(36): Show TCCACAATCTTCCTCTTCCTCTCTTGATGACCTCACGTACCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	276	0.0036	43	c.48 others(54): Show c.4892_*4893insCCACAATCTTCCTCTTCCTCTCTTGATGACCTCA CGTACCTGC		OCRL	ENSG00000122126.18	transcript	ENST00000371113.9	protein_coding					2607		chrX	TogoVar
OGFOD3_chr17_82384210_82423586	82420232	C C	CTTTGTTT others(36): Show CTTTGTTTATTTGTTTTATTTTTTGTATTTGTTTTTATTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0274 a0001c0003t0002g0274	1	346	0.0029	43	c.-17 others(54): Show c.-1748_-1747insAAGAAAATAAAAACAAATACAAAAAATAAAACAA ATAAACAAA		OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding					1647		chr17	TogoVar
OMA1_chr1_58475719_58551726	58518266	G G	GGGAGAGG others(36): Show GGGAGAGGGGAGAGGGGAGAGGGGAGAGGAGAGAGGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	371	0.0027	43	c.121 others(62): Show c.1215+8994_1215+8995insTCTCTTCTCCTCTCTCCTCTCCCCTC TCCCCTCTCCCCTCTCC		OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8						chr1	TogoVar
OPA1_chr3_193588208_193702811	193596407	T T	TTTCTTTT others(36): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18975.hp2 NA19087.hp2 HG01993.hp1 NA18975.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0207 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0207	3	256	0.0117	43	c.32+ others(58): Show c.32+3014_32+3015insTCTTTTCTTTTCTTTTCTTTTCTTTTCTTC TTTTCTTTTCTTT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr3	TogoVar
OPLAH_chr8_144046266_144065692	144055220	C C	CCCCACCC others(36): Show CCCCACCCACCCACAGCCTGGCCCCGGAAAAGGGAGGAACAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0002 a0002	a0002c0039 a0002c0040 a0002c0039 a0002c0040	a0002c0039t0002 a0002c0040t0002 a0002c0039t0002 a0002c0040t0002	a0002c0039t0002g0089 a0002c0040t0002g0090 a0002c0039t0002g0089 a0002c0040t0002g0090	2	316	0.0063	43	c.224 others(58): Show c.2249-32_2249-31insTCCTGTTCCTCCCTTTTCCGGGGCCAGGCT GTGGGTGGGTGGG		OPLAH	ENSG00000178814.17	transcript	ENST00000618853.5	protein_coding	16/26						chr8	TogoVar
OPN5_chr6_47777032_47831381	47819353	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	311	0.0032	43	c.105 others(62): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATATATATAT		OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6						chr6	TogoVar
OR10G7_chr11_124031013_124046325	124032451	T T	TTTGTATT others(36): Show TTTGTATTTTTCAAAATATTTAATGTATTAATCAAGTATTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0006 a0010c0012t0006	a0010c0012t0006g0019 a0010c0012t0006g0019	1	480	0.0021	43	c.56 others(54): Show c.5614_*5615insTGAAAATACTTGATTAATACATTAAATATTTTGA AAAATACAA		OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding					3561		chr11	TogoVar
OR11H4_chr14_20234286_20249349	20238008	T T	TATATTAT others(36): Show TATATTATATATAATATATATTATATATAATACATATCATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	279	0.0036	43	c.-13 others(54): Show c.-1335_-1334insATATTATATATAATATATATTATATATAATACAT ATCATATAC		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1277		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20238008	T T	TATATTAT others(36): Show TATATTATATATAATATATATTATATATAATACATATTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02486.hp2 others(10): Show HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0079 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0081 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0007g0076	13	291	0.0447	43	c.-13 others(54): Show c.-1335_-1334insATATTATATATAATATATATTATATATAATACAT ATTATATAC		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1277		chr14	TogoVar
OR11H6_chr14_20218710_20229702	20222309	T T	TTTGATCA others(36): Show TTTGATCAAGTACTGAAAGGCAGGCCTCTCGCTCTCTGTGGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	448	0.0022	43	c.-14 others(54): Show c.-1401_-1400insTTGATCAAGTACTGAAAGGCAGGCCTCTCGCTCT CTGTGGATC		OR11H6	ENSG00000176219.3	transcript	ENST00000315519.3	protein_coding					1400		chr14	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	43	c.64 others(52): Show c.641_*642insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding					642		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696107	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	50	0.0200	43	c.64 others(52): Show c.645_*646insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding					646		chr9	TogoVar
OR1A2_chr17_3192519_3203448	3197530	A A	ATTTTCTT others(36): Show ATTTTCTTTCTTCATGGACTTTCTTCAGCATGAAAGGGGAGAGG	frameshift_variant frameshift_variant	HIGH	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0000 a0008c0012t0001g0000	1	428	0.0023	43	c.12_ others(48): Show c.12_13insTTTTCTTTCTTCATGGACTTTCTTCAGCATGAAAGGGGAG AGG	p.Asn others(3): Show p.Asn5fs	OR1A2	ENSG00000172150.4	transcript	ENST00000381951.1	protein_coding	1/1	13/930	13/930	5/309			chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399209	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	297	0.0034	43	c.-80 others(52): Show c.-800_-799insCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCT TTCTTTC		OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding					800		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399258	G G	GAAGGAAG others(36): Show GAAGGAAGGAAGGAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	303	0.0033	43	c.-84 others(52): Show c.-849_-848insTCCTTTCCTTTCCTTTCCTTCCTTCCTTCCTCCTTC CTTCCTT		OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding					849		chr17	TogoVar
OR1E1_chr17_3392104_3403410	3399272	G G	GAAAGGAA others(36): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAGAAAGAAAGAAAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18982.hp1 NA18967.hp2 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	2	290	0.0069	43	c.-86 others(52): Show c.-863_-862insTCTCTTTCTTTCTTTCTTCCTTTCCTTTCCTTTCCT TTCCTTT		OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding					863		chr17	TogoVar
OR1F1_chr16_3183204_3211556	3188050	G G	GAAAAGAA others(36): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0236 a0001c0001t0010g0236	1	228	0.0044	43	c.-59 others(52): Show c.-592_-591insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding					153		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3188052	A A	AAAGAAAA others(36): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	304	0.0033	43	c.-59 others(52): Show c.-590_-589insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAG		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding					151		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(36): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	143	0.0070	43	c.-12 others(60): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGGAGAGGGAGAAGG AGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2B2_chr6_27906185_27917396	27915297	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	329	0.0030	43	c.-29 others(54): Show c.-2979_-2978insTATATATATATATATATATATATATATATATATA TATATATAT		OR2B2	ENSG00000168131.4	transcript	ENST00000303324.4	protein_coding					2902		chr6	TogoVar
OR2F1_chr7_143949844_143969360	143950764	A A	ATTTATTT others(36): Show ATTTATTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0014 a0003c0004t0021g0014	1	387	0.0026	43	c.-45 others(54): Show c.-4519_-4518insTTTATTTATTTATTTATTTTTTTTTTTTTTTTTT TTTTTTTTT		OR2F1	ENSG00000213215.5	transcript	ENST00000641412.1	protein_coding					4079		chr7	TogoVar
OR2G3_chr1_247600586_247611515	247610088	A A	AATGAACA others(36): Show AATGAACATACTTCAACATAATAAAAGTCATGCAAAATGGACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	410	0.0024	43	c.35 others(54): Show c.3573_*3574insATGAACATACTTCAACATAATAAAAGTCATGCAA AATGGACCC		OR2G3	ENSG00000177476.3	transcript	ENST00000320002.3	protein_coding					3574		chr1	TogoVar
OR2Z1_chr19_8716634_8737160	8736915	G G	GATCATGT others(36): Show GATCATGTTGGCCTCATCTCCTTGATTTTAAAAACAGTATTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	436	0.0023	43	c.49 others(54): Show c.4942_*4943insATCATGTTGGCCTCATCTCCTTGATTTTAAAAAC AGTATTCTA		OR2Z1	ENSG00000181733.4	transcript	ENST00000641125.1	protein_coding					4756		chr19	TogoVar
OR3A2_chr17_3271177_3391308	3367599	G G	GTATATAT others(36): Show GTATATATATTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG00741.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0004 a0001c0001t0010 a0002c0002t0004	a0001c0001t0010g0297 a0002c0002t0004g0294 a0001c0001t0010g0297 a0002c0002t0004g0294	2	204	0.0098	43	c.-37 others(64): Show c.-377+18525_-377+18526insTATATATATATATATATATATATA TATATATATAATATATATA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	1/4						chr17	TogoVar
OR6Q1_chr11_58025953_58036906	58034769	T T	TCCTTCCT others(36): Show TCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCTTTCTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	43	c.28 others(54): Show c.2863_*2864insCCTTCCTTCCTTCCTTCTTCCTTCCCTCCCTCCT TTCTCCTTC		OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding					2864		chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	50	0.0200	43	c.730 others(62): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24158330	T T	TTTTTTGA others(36): Show TTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03942.hp1 HG03239.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0132 a0001c0002t0001g0091 a0001c0002t0001g0132	2	204	0.0098	43	c.48 others(54): Show c.4806_*4848dupGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAA		OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding					3721		chr18	TogoVar
OSBPL3_chr7_24791540_24985178	24917401	C C	CATATATA others(36): Show CATATATATATATATATATATATATATATTTGTAACATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	71	0.0141	43	c.-14 others(64): Show c.-149-24781_-149-24780insATATATATGTTACAAATATATATA TATATATATATATATATAT		OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22						chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917446	T T	TATATATA others(36): Show TATATATATATATATATATATATTTGTAACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	231	0.0043	43	c.-14 others(64): Show c.-149-24826_-149-24825insGTATATATATATATGTTACAAATA TATATATATATATATATAT		OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22						chr7	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA19065.hp2 NA18992.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0127 a0001c0001t0001g0021 a0001c0001t0001g0127	2	13	0.1538	43	c.52 others(54): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding					4727		chr19	TogoVar
OVOL1_chr11_65782063_65802214	65801409	G G	GGAGAAAA others(36): Show GGAGAAAATGCTGCTGAGCTGAGTGGGATGGAAGAGACAGCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	442	0.0023	43	c.60 others(54): Show c.6068_*6069insGAGAAAATGCTGCTGAGCTGAGTGGGATGGAAGA GACAGCCGA		OVOL1	ENSG00000172818.10	transcript	ENST00000335987.8	protein_coding					4196		chr11	TogoVar
OXSR1_chr3_38160537_38260484	38161580	T T	TAATATAG others(36): Show TAATATAGTTCATATATTATGTATATTTCATTTACATAATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02293.hp2 NA18980.hp1 HG01099.hp2 HG02293.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0146 a0001c0001t0003g0143 a0001c0001t0009g0162 a0001c0001t0001g0146 a0001c0001t0003g0143 a0001c0001t0009g0162	3	163	0.0184	43	c.-42 others(54): Show c.-4297_-4296insAATATAGTTCATATATTATGTATATTTCATTTAC ATAATATAG		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3956		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01175.hp2 others(10): Show HG00438.hp2 HG00558.hp2 HG01175.hp2 HG01361.hp1 HG01496.hp1 HG03098.hp2 HG03654.hp2 HG04228.hp2 NA18959.hp2 NA18983.hp1 NA18986.hp2 NA19057.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0028	13	182	0.0714	43	c.-58 others(52): Show c.-585_-584insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG		P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding					543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0224 a0001c0004t0001g0224	1	47	0.0213	43	c.134 others(60): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT ATATATATTTTTTTT		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	47	0.0213	43	c.134 others(60): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT ATATATTTTTTTTTT		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130816	A A	AAAAGAAA others(36): Show AAAAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02630.hp1 HG00099.hp2 HG02630.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0003 a0004c0003t0004 a0003c0004t0003 a0004c0003t0004	a0003c0004t0003g0187 a0004c0003t0004g0233 a0003c0004t0003g0187 a0004c0003t0004g0233	2	325	0.0062	43	c.-21 others(54): Show c.-2155_-2154insAAAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAA GAAAGAAAG		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding					2059		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130843	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01358.hp1 others(11): Show HG00280.hp2 HG01255.hp2 HG01358.hp1 HG01943.hp2 HG04228.hp1 NA18747.hp1 NA18943.hp2 NA18946.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18985.hp2 NA18999.hp2 NA19090.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0008 a0014 a0025	a0001c0001 a0003c0004 a0006c0005 others(3): Show a0001c0001 a0003c0004 a0006c0005 a0008c0007 a0014c0012 a0025c0040	a0001c0001t0001 a0001c0001t0034 a0003c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0034 a0003c0004t0001 a0006c0005t0002 a0006c0005t0026 a0008c0007t0002 a0014c0012t0006 a0025c0040t0003	a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0034g0111 others(11): Show a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0034g0111 a0003c0004t0001g0026 a0003c0004t0001g0038 a0003c0004t0001g0055 a0003c0004t0001g0163 a0006c0005t0002g0141 a0006c0005t0002g0143 a0006c0005t0026g0041 a0008c0007t0002g0022 a0008c0007t0002g0024 a0014c0012t0006g0154 a0025c0040t0003g0066	14	78	0.1795	43	c.-21 others(54): Show c.-2128_-2127insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAG		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding					2032		chr12	TogoVar
P2RY4_chrX_70253166_70265204	70262380	G G	GAGCAGCA others(36): Show GAGCAGCATAGAGAAGGAAGAGTAGTCAGAAGAAGGAGGAAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	327	0.0031	43	c.-27 others(54): Show c.-2757_-2756insAGCTTCCTCCTTCTTCTGACTACTCTTCCTTCTC TATGCTGCT		P2RY4	ENSG00000186912.7	transcript	ENST00000374519.4	protein_coding					2177		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1457746	T T	TATCTATC others(36): Show TATCTATCTATCCATCTATGTATGTATGTATGTATGTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03195.hp2 HG02897.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0012 a0001c0001t0006 a0001c0003t0012	a0001c0001t0006g0020 a0001c0003t0012g0002 a0001c0001t0006g0020 a0001c0003t0012g0002	2	108	0.0185	43	c.77 others(54): Show c.7732_*7733insGATAGATACATACATACATACATACATAGATGGA TAGATAGAT		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding					4834		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468789	T T	TCTCCCCT others(36): Show TCTCCCCTCTCCCCTCTCCCCTCTCCTTCCCTCTCCCCTCTCCC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0106 a0001c0001t0016g0106	1	113	0.0088	43	c.-24 others(60): Show c.-24-2208_-24-2207insGGGAGAGGGGAGAGGGAAGGAGAGGGGA GAGGGGAGAGGGGAG		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1490380	G G	GCAAATGT others(36): Show GCAAATGTGGGGGGAATGAATGAATGACATCCAGGGATTCTCCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	113	0.0088	43	c.-24 others(62): Show c.-24-23799_-24-23798insTGGAGAATCCCTGGATGTCATTCATT CATTCCCCCCACATTTG		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1508999	T T	TATCTATC others(36): Show TATCTATCCATCTATTCATCCATCTGTCTATCCTGTATGTGTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18970.hp1 NA18984.hp1 others(1): Show HG02074.hp1 NA18970.hp1 NA18984.hp1 NA19006.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0007 a0003c0008t0015 a0001c0001t0001 a0001c0001t0007 a0003c0008t0015	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0007g0074 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0007g0074 a0003c0008t0015g0095	4	111	0.0360	43	c.-25 others(62): Show c.-25+27921_-25+27922insGAACACATACAGGATAGACAGATGGA TGAATAGATGGATAGAT		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PACRG_chr6_162722974_163320500	162892904	G G	GAGAACCA others(36): Show GAGAACCACCTCAGCCTCAGGAGCCTCGGCCCACACCCCAGAGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19063.hp1 NA18959.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0113 a0001c0001t0004g0082 a0001c0001t0002g0113 a0001c0001t0004g0082	2	92	0.0217	43	c.291 others(62): Show c.291+78642_291+78684dupGGAGCCTCGGCCCACACCCCAGAGAA GAACCACCTCAGCCTCA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATAAAATTAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0005 a0001c0001t0031 a0001c0002t0005	a0001c0001t0031g0050 a0001c0002t0005g0047 a0001c0001t0031g0050 a0001c0002t0005g0047	2	101	0.0198	43	c.-22 others(62): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA TATATATATAAAATTAC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14						chr3	TogoVar
PALLD_chr4_168492052_168933441	168709613	A A	AGGGAGGG others(36): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	116	0.0086	43	c.162 others(60): Show c.1621+466_1621+467insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGG		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21						chr4	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(36): Show AGGGAGGGAGGGAGGAAGGGAGGAAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0032 a0004c0014t0001g0032	1	56	0.0179	43	c.162 others(60): Show c.1621+486_1621+487insGGGAGGGAGGGAGGAAGGGAGGAAGGGG GAAAAGGAGTGGGGG		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21						chr4	TogoVar

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