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
HMGB4_chr1_33859079_33869791	33864934	A A	AGGGGAAG others(204): Show AGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAGTGG GATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGAGTG AGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGAGGG GGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGA GGGGAGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02004.hp1 HG02148.hp2 others(1): Show HG01496.hp1 HG02004.hp1 HG02148.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	402	0.0100	211	c.18 others(220): Show c.182_*183insGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAG GGAGAAGGAGTGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAG GATGGGGAGAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGG AGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAG GGGAAGGGAGGGAGGGGAGGGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		144		chr1	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(204): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTATATATATAATATATATATTAATA TATATAATATATATAAATATATATAATATATATAATATATATATTATATA TATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	414	0.0024	211	c.57 others(222): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATTATATATATTTATATATATTATATATATTAATATATATATTATATAT ATAATATATATATTATATATAATATATATATTAATATATATATTATATAT ATATTTATATATAATATATTATATTAATATATATATAATATATATAATAT ATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(204): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01516.hp2 others(21): Show HG00609.hp2 HG00639.hp2 HG01516.hp2 HG01517.hp2 HG03239.hp1 HG03710.hp2 NA18612.hp1 NA18947.hp1 NA18947.hp2 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA19005.hp1 NA19054.hp2 NA19056.hp2 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0007t0001 a0001c0001t0001 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0226 a0001c0001t0001g0227 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0312 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0308 a0001c0002t0001g0309 a0002c0007t0001g0221 a0002c0007t0001g0222	24	350	0.0686	211	c.485 others(228): Show c.485+4077_485+4078insTTCATTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(204): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACGTGTATATATACATATGTG TATATATACGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	176	0.0057	211	c.349 others(230): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACGTGTATATATACATATGTGTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(204): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA18982.hp2 NA19003.hp1 others(2): Show HG01515.hp2 NA18982.hp2 NA19003.hp1 NA19004.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0002 a0001c0002t0002 a0005c0006t0002 a0001c0001t0002 a0001c0002t0002 a0005c0006t0002	a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0025 others(2): Show a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0002t0002g0016 a0005c0006t0002g0041	5	426	0.0117	211	c.-86 others(220): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(204): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATAT TTATTTATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(32): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02071.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02738.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA19054.hp1 NA19057.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0001t0073 a0001c0001t0094 a0001c0001t0095 a0001c0003t0001 a0001c0003t0002 a0001c0004t0035 a0001c0004t0055 a0002c0005t0004 a0004c0014t0003	a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0001g0282 others(32): Show a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0003g0070 a0001c0001t0007g0300 a0001c0001t0009g0111 a0001c0001t0009g0129 a0001c0001t0012g0151 a0001c0001t0012g0165 a0001c0001t0036g0113 a0001c0001t0037g0280 a0001c0001t0048g0093 a0001c0001t0049g0076 a0001c0001t0073g0167 a0001c0001t0094g0246 a0001c0001t0095g0290 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0209 a0001c0003t0002g0013 a0001c0004t0035g0072 a0001c0004t0055g0094 a0002c0005t0004g0206 a0004c0014t0003g0068	35	338	0.1036	211	c.117 others(232): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(204): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTATATATATATTACATATATATAATATATATATTA TATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19091.hp2 HG00673.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0056 a0001c0001t0005g0008 a0001c0001t0005g0056	2	386	0.0052	211	c.-44 others(222): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAATATATATATAACATATATATAATATATATATTATATATATGTAACAT ATATATAATATATATATTATATATATATATAACATATATATAATATATAT ATTATATATATGTAACATATATATAATATATATATTATATATATATATAA CATATATATAATATATATATTATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KLK7_chr19_50971468_50988917	50975235	G G	GGGGGGAG others(204): Show GGGGGGAGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGGGGGG AGCGGTCTGAACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGAGTCTGG ACTCCTGGGTCTGAGGAAGGAGGGGCTGGGGGCGGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGCGGGGGGGGGGTCTGAACTCCTGGGTCTGAG GGAGGAGGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG02723.hp2 HG03225.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0020 a0001c0001 a0008c0020	a0001c0001t0001 a0008c0020t0001 a0001c0001t0001 a0008c0020t0001	a0001c0001t0001g0101 a0008c0020t0001g0137 a0001c0001t0001g0101 a0008c0020t0001g0137	2	384	0.0052	211	c.23 others(222): Show c.2300_*2301insAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGACC CCCCCCCCGCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCGCCCC CAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGACTCCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTTCAGACCGCTCCCCCCCGCCAGCCCCTCCTCC CTCAGACCCAGGAATCCAGACTCCCCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding		1232		chr19	TogoVar
KSR2_chr12_117448012_117973990	117947205	A A	AAAGAAAG others(204): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0141 a0001c0003t0005g0141	1	196	0.0051	211	c.180 others(230): Show c.180+20870_180+20871insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
LMF1_chr16_848634_975984	858776	C C	CAGTGGTG others(204): Show CAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCCCGGGACGGGTGTGCAGTGT TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTC GGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01517.hp1 HG00099.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	294	0.0068	211	c.153 others(230): Show c.1530-4071_1530-4070insCACACCCGTCCCGAGACACCACTGCA CACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCG TCCCGGGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTGCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	955150	C C	CGTGCCTG others(204): Show CGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAAGTA AACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGC ATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTG CCCGCAGCAGACGCAGTGTGTGCAAACACATCTAAGTGAACCAGACACGT TACATAAAATGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG02622.hp2 others(2): Show HG00738.hp2 HG02451.hp2 HG02622.hp2 HG03225.hp2 NA18522.hp2	a0001 a0013 a0001 a0013	a0001c0013 a0001c0019 a0013c0050 a0001c0013 a0001c0019 a0013c0050	a0001c0013t0001 a0001c0019t0001 a0013c0050t0001 a0001c0013t0001 a0001c0019t0001 a0013c0050t0001	a0001c0013t0001g0097 a0001c0013t0001g0098 a0001c0019t0001g0099 others(2): Show a0001c0013t0001g0097 a0001c0013t0001g0098 a0001c0019t0001g0099 a0001c0019t0001g0100 a0013c0050t0001g0101	5	294	0.0170	211	c.194 others(226): Show c.194-485_194-484insCCATTTTATGTAACGTGTCTGGTTCACTTA GATGTGTTTGCACACACTGCGTCTGCTGCGGGCACGCATTTTATGTAACG TGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGCT GCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGTG TGTATACACACACCACGTCTGCAGCAGGCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC74A_chr14_76821408_76875304	76867188	A A	AGTGTGTG others(204): Show AGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGG GGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTG TTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTT GGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGT GTGTGTGTGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	408	0.0025	211	c.130 others(228): Show c.1309-117_1309-116insTGTGTGGGTGTGTTGGGGGGTGGGGTGT GTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTG TGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGG GTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LYPD8_chr1_248734415_248760759	248742156	T T	TCTCTGGT others(204): Show TCTCTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATGT TGGCAGCGGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGCCGGGGGAG GTTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGG GGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCC GGGGAGGTTATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	374	0.0027	211	c.476 others(228): Show c.476-2518_476-2308dupCATAACCTCCCCGGCTGCCAACATCCCC ACCAGAGCATAATCTCCCCCGACTGCCAACATCCCCACCAGAGCATAATC TCCCCCGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGGCTGCCAA CATCCCCACCAGAGCGTAATCTCCCCCGCTGCCAACATCCCCACCAGAGC ATAATCTCCCCGCTGCCAACATCCCCACCAGAG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416284	T T	TATTAATT others(204): Show TATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACA TATTAATTATGTAATTAATGACACATATTATTATGTAATTAATGACACAT ATTATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGACACAT ATTAATTATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	236	0.0042	211	c.316 others(230): Show c.316+24953_316+24954insGACACATATTAATTATGTAATTAATG ACACATATTAATTATGTAATTAATGACACATATTATTATGTAATTAATGA CACATATTATTATGTAATTAATGACACATATTAATTATGTAATTAATGAC ACATATTATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGA CACATATTAATTATGTAATTAATTATGTAATTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP2K2_chr19_4085321_4129122	4122157	C C	CACCCTCC others(204): Show CACCCTCCCACCCCCATCTCTCCCCCATAGGAACCCTCCCACCCCATCTC TCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCTCCC ACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAG GGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	330	0.0030	211	c.92+ others(226): Show c.92+1626_92+1627insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTGTGGGG GAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGT TCCTATGGGGGAGAGATGGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(204): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGG GACCCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCACCCCATCTC TCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03927.hp1 HG02976.hp1 HG03927.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0257 a0003c0010t0001g0172 a0001c0001t0001g0257 a0003c0010t0001g0172	2	330	0.0061	211	c.92+ others(226): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTGTGGGGGAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGG GGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGG TCCCTATGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(204): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATGTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGG GACCCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0297 a0001c0002t0007g0297	1	330	0.0030	211	c.92+ others(226): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGG GGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGACATGGGGTGGGAGGG TCCCTATGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(204): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTC TCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCC ACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp2 NA18965.hp1 others(2): Show HG00438.hp2 HG01433.hp2 NA18965.hp1 NA18977.hp1 NA18997.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0010c0013t0002 a0001c0001t0001 a0001c0001t0002 a0010c0013t0002	a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0178 a0001c0001t0002g0102 a0010c0013t0002g0101	5	330	0.0152	211	c.92+ others(226): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGG TCCCTGTGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(204): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCACAGGGACCCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCC ACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02148.hp2 HG03942.hp2 others(1): Show HG01192.hp2 HG02148.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0100 a0001c0001t0002g0176 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0100 a0001c0001t0002g0176 a0001c0001t0002g0177	4	330	0.0121	211	c.92+ others(226): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGG TCCCTGTGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(204): Show GACCCTCCCACCCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTC TCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCC ACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTC TCCCCCATAGGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	330	0.0030	211	c.92+ others(226): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGT CCCTGTGGGGGAGAGATGGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122308	A A	ACCCCCTC others(204): Show ACCCCCTCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTC CCCCACAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGG ACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTC CCCCACAGGGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	330	0.0030	211	c.92+ others(226): Show c.92+1475_92+1476insGTCCCTGTGGGGGAGAGATGGGGTGGGAGG GTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATG GGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGG GGGAGAGATGGGGTGGGAGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGG GTCCCTGTGGGGGAGAGATGGGGTGAGGGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122338	A A	ACCCCCTC others(204): Show ACCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCACCCCATCTCTC CCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGG ACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTC CCCCATAGGGAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02615.hp2 HG04204.hp1 HG01123.hp1 HG02615.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0078 a0001c0003t0001g0048 a0001c0003t0001g0085 a0001c0001t0001g0078 a0001c0003t0001g0048 a0001c0003t0001g0085	3	330	0.0091	211	c.92+ others(226): Show c.92+1445_92+1446insGTCCCTATGGGGGAGAGATGGGGTGAGGGG GTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATG GGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGG GGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGG GTCCCTGTGGGGGAGAGATGGGGTGAGGGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(204): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGAGGAGGGAGGGATG GGGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGGAGAGGGAGGAGAGA GGGGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGGAGATGGG GGAGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGG AGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0159 a0002c0002t0006g0159	1	163	0.0061	211	c.525 others(228): Show c.525+8507_525+8508insCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCATCTCCCCCCTCT CCCCCATCTCCCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCTCCCTCTCC CCCCCTCTCCCTCCCCTCTCCCCTCTCTCTCCCCCATCCCTCCCTCCTCT CTCTCTCTCTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163894732	C C	CATATATA others(204): Show CATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATA TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	102	0.0098	211	c.-38 others(230): Show c.-38-40564_-38-40563insATGCATCACATGCATATATATATATG CATCACATGCATATATATATATGCATCACATGCATATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATATGCATCACAT GCATATATATATATGCATCACATGCATATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(204): Show CTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	181	0.0055	211	c.107 others(230): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(204): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	181	0.0055	211	c.107 others(230): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(204): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	181	0.0055	211	c.107 others(230): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MPI_chr15_74885042_74907219	74894039	A A	AGTGTGTG others(204): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTG GAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTC AAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTT CAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0137 a0001c0003t0005g0137	1	422	0.0024	211	c.670 others(226): Show c.670+781_670+782insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGTGTGG others(204): Show GGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGG GGCGTGTGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGAGGGGCCCGTGG AGGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGCGAGTGGAGGA GCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGC GGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0075 a0005c0075	a0005c0075t0001 a0005c0075t0001	a0005c0075t0001g0040 a0005c0075t0001g0040	1	388	0.0026	211	c.159 others(228): Show c.1596+322_1596+323insGTGTGGAGGGGGGCGCGTGGGGGTGCGT GGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGTGCGTGGAGGAGGGGCG TGTGGAGGAGGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGTGTG GAGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYNN_chr3_169768396_169794716	169771201	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	350	0.0029	211	c.-22 others(222): Show c.-2293_-2292insATAAATATAAAAATTTATGTTTATATATCATAAA TATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATAT ATAATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATAA ATATATAAAAATTTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2194		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771201	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATCATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA18963.hp2 NA18991.hp2 others(1): Show HG00738.hp2 NA18963.hp2 NA18991.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0003g0089 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0003g0089 a0001c0001t0003g0107	4	350	0.0114	211	c.-22 others(222): Show c.-2293_-2292insATAAATATAAAAATTTATGTTTATATATCATAAA TATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATAT ATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATAA ATATATAAAAATTTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2194		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771232	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA19067.hp2 HG01981.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0032 a0001c0001t0003g0024 a0001c0001t0003g0032	2	350	0.0057	211	c.-22 others(222): Show c.-2262_-2261insATAAATATAAAAATTTATGTTTATATATCATAAA TATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATAT ATAATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATAA ATATATAAAAATTTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2163		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771232	C C	CATAAATA others(204): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATCATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	350	0.0029	211	c.-22 others(222): Show c.-2262_-2261insATAAATATAAAAATTTATGTTTATATATCATAAA TATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATAT ATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATAA ATATATAAAAATTTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2163		chr3	TogoVar
NAGK_chr2_71063648_71084808	71081115	T T	TTTATTTT others(204): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	211	c.26 others(222): Show c.2607_*2608insTTATTTTATTTTATTTTATTTTATTTTATTTTAT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTTGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATG	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1308		chr2	TogoVar
NCOR2_chr12_124319415_124572612	124373299	G G	GCCCCGGG others(204): Show GCCCCGGGCACAGTGGACAGTGAGGCCAGTGCGTGCGCAGGGGCCCCGGG CACAGTGGACAGTGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGG ACAGTGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAGTGAG GCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCCAGTGC GTGCGCAGGGGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0031 a0004c0015t0031	a0004c0015t0031g0064 a0004c0015t0031g0064	1	234	0.0043	211	c.221 others(228): Show c.2219-690_2219-689insGCCCCTGCGCACGCACTGGCCTCACTGC CCACTGTGCCCGGGGCCCCTGCGCACGCACTGGCCTCACTGCCCACTGTG CCCGGGGCCCCTGCGCACGCACTGGCCTCACTGTCCACTGTGCCCGGGGC CCCTGCGCACGCACTGGCCTCACTGTCCACTGTGCCCGGGGCCCCTGCGC ACGCACTGGCCTCACTGTCCACTGTGCCCGGGG	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NEU4_chr2_241804193_241822413	241806913	T T	TTCCCTCC others(204): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0176 a0002c0003t0002g0176	1	319	0.0031	211	c.-23 others(222): Show c.-2365_-2364insTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2279		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(204): Show TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	319	0.0031	211	c.-16 others(222): Show c.-1628_-1627insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656477	T T	TCTCTGAA others(204): Show TCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCT TCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCC ACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGC CCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCA GCCCACCTTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0316 a0001c0001t0052g0316	1	366	0.0027	211	c.-16 others(232): Show c.-163-18073_-163-18072insTCTGAAGCCCACCTCCTCCCGCAG CGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTG AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCT TTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLK_chr17_28037677_28201381	28172264	A A	AAATTCCT others(204): Show AAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTT ATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGA ATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATG AGGAATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTA CATGAGGAATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	108	0.0093	211	c.104 others(228): Show c.1048-253_1048-252insAATTCCTTTACATGAGGAATTTATTTAA ATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTTAT TTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAAT TTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAG GAATTTATTTAAATTCCTTTACATGAGGAATTT	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10			chr17	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(204): Show AAAGAAAGAAAGACAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAAAGACAGAA AGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAG AAAGAAAGACAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0006 a0006	a0006c0047 a0006c0047	a0006c0047t0001 a0006c0047t0001	a0006c0047t0001g0084 a0006c0047t0001g0084	1	440	0.0023	211	c.319 others(226): Show c.319+282_319+283insCTGTCTTTCTTTCTGTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTGTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931720	A A	AGACAGAA others(204): Show AGACAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAG AAAGACAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGACAGAA AGAAAGAAAGACAGAAAGAAAGAAAGACAGAAAGAAAGAAAGACAGAAAG AAAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0412 a0001c0014t0001g0412	1	440	0.0023	211	c.319 others(226): Show c.319+272_319+273insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTGTCTTTCTTTCT TTCTGTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTGTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCT GTCTTTCTTTCTTTCTTTCTTTCTTTCTGTC	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCTCCCC others(204): Show CCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCTCC CCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0047 a0006c0007t0008g0047	1	350	0.0029	211	c.55 others(222): Show c.5578_*5579insCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCTCCC CCTCCCCCCTCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(204): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0242 a0001c0004t0001g0243	2	356	0.0056	211	c.91+ others(224): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535964	T T	TCCCAGGG others(204): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCAC TCAGGATCCCTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0004 a0001c0075t0004	a0001c0075t0004g0112 a0001c0075t0004g0112	1	324	0.0031	211	c.140 others(228): Show c.140+8059_140+8060insGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCCACCCACCATGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108163931	G G	GGGGTAGT others(204): Show GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGG TGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCAT ACCGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	208	0.0096	211	c.346 others(230): Show c.3466+2989_3466+2990insACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATT ACCGCCACCCCACCCGGTATGACCTCTCACTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(204): Show AAAAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0180 a0004c0021t0001g0180	1	208	0.0048	211	c.-10 others(232): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NUTM2F_chr9_94313198_94333644	94313308	T T	TATATTAT others(204): Show TATATTATATTATTTATATTTTATTTAATATATTATAATATATTATATTT ATATAATATAATATATTATATTTTATATAATATAATATATTATATTTTAT ATTATATATTATATTATATAAAATATAATATATTATATAAAATATAATAT ATTATATTTATATAATATATTATATTATATAAAATATAATATATTATATT ATATAAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	322	0.0031	211	c.51 others(222): Show c.5156_*5157insTATATTTTATATAATATAATATATTATATTTTAT ATAATATAATATATTATATAAATATAATATATTATATTTTATATAATATA TTATATTTTATATAATATAATATATAATATAAAATATAATATATTATATT ATATAAAATATAATATATTATATTATATAAATATAATATATTATAATATA TTAAATAAAATATAAATAATATAATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4889		chr9	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(204): Show TTATATTATATATATTATATATATAATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18984.hp2 NA19084.hp2 NA18969.hp2 NA18984.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	211	c.-23 others(222): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATTATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(204): Show TTATATTATATATATTATATATATTATATATATAATATATATAATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19087.hp2 NA19055.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	450	0.0044	211	c.-23 others(222): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATTATATATAATATATATTATATATATTATATA TATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(204): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATAATATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 NA18956.hp1 NA18999.hp2 HG01192.hp1 NA18956.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	450	0.0067	211	c.-23 others(222): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATATTATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar

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