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
LRRC28_chr15_99246481_99395729	99387186	A A	GAGTAGCT others(301): Show GAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCACTACTGGTTTTTTTTTGTTGTTGT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGTGGCGGGATC TCGGCTCACTGCAGGCTCGGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0262 a0001c0001t0134g0262	1	154	0.0065	308	c.10 others(319): Show c.1083_*1084insGAGTAGCTGGGACCACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACTACTGGT TTTTTTTTGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCGGTGGCGGGATCTCGGCTCACTGCAGGCTCGGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCC	LRRC28	ENSG00000168904.15	transcript	ENST00000301981.8	protein_coding	10/10	1084		chr15	TogoVar
LYRM4_chr6_5103419_5265950	5135085	A A	ACTCCCGG others(301): Show ACTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTG CGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGG AGGGTGCGGATCTCTCCCGGGGCTGTGGAGGGTGCGGTTCGCTCCCGGGG CTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTC CCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGG TGCGGATCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	238	0.0042	308	c.208 others(327): Show c.208-25595_208-25594insCGATCCGCACCCTCCACAGCCCCGGG AGCGATCCGCACCCTCCACAGTCCCGGGAGTGAACCGCACCCTCCACAGC CCCGGGAGCGATCCGCACCCTCCACAGCCCCGGGAGAGAACCGCACCCTC CACAGCCCCGGGAGCGATCCGCACCCTCCACAGCCCCGGGAGCGAACCGC ACCCTCCACAGCCCCGGGAGAGATCCGCACCCTCCACAGCCCCGGGAGCG ATCCGCACCCTCCACAGTCCCGGGAGCGATCCGCACCCTCCACAGTCCCG GGAGCGATCCGCACCCTCCACAGCCCCGGGAG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(301): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp1 HG02572.hp2 others(9): Show HG01934.hp2 HG02257.hp1 HG02572.hp2 HG03139.hp2 HG03669.hp2 NA18943.hp1 NA18947.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 others(9): Show a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0004g0231 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0008g0234 a0001c0001t0009g0235	12	201	0.0597	308	c.-15 others(325): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIS1_chr2_66430125_66578869	66431845	T T	TAGAAAAC others(301): Show TAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	112	0.0089	308	c.-40 others(319): Show c.-4012_-4011insAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT TCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAAA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding		3279		chr2	TogoVar
METRNL_chr17_83074609_83100122	83090386	C C	CCCCCACA others(301): Show CCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACACCCC CCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACA CACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCCACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACA CACACCCCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0296 a0001c0001t0009g0296	1	294	0.0034	308	c.557 others(325): Show c.557-2769_557-2768insCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACCCCGCCCCACACACACACACCCCCCGCCCCACACACAC ACACACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGG AGCCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCC CCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCC CCACACACACACACCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGAGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	199	0.0050	308	c.14+ others(323): Show c.14+2385_14+2386insTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCT CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(301): Show AATAATTGTCTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	206	0.0049	308	c.112 others(323): Show c.112+923_112+924insTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(301): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20300.hp2 HG01934.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0075 a0001c0003t0001g0076 a0001c0002t0001g0075 a0001c0003t0001g0076	2	60	0.0333	308	c.241 others(327): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(301): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATGTATATATATGTATATATATGTATATATATGTAT ATATATGTGTATATATGTATATATATGTATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATGTGTATATATATGTATATAT ATGTATATATATGTATATATATGTATATATATGTATATATATATGTATAT ATATGTATATATATGTATATATATATGTATATATATGTATATATATATGT ATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0165 a0004c0005t0003g0165	1	365	0.0027	308	c.484 others(323): Show c.484-660_484-659insCATATATATACATATATATATACATATATA TACATATATATATACATATATATACATATATATACATATATATATACATA TATATACATATATATACATATATATACATATATATACATATATATACACA TATATATACATATATATACATATATATACACATATATATATACATATATA TACATATATATACATATATACACATATATATACATATATATACATATATA TACATATATATACATATATACATATATATACATATATATATACATATATA TATACATATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(301): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATAATATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATTATATA TATACATATTATATATTATATATATAATATATATACATATTATATTATAT ATAATATATATACATATTATATTATATATAATATATATACATATTATATT ATATATAATATATATACATATTATATATATAATATATAATATATTACATA TTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0103 a0006c0008t0001g0103	1	38	0.0263	308	c.262 others(327): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATAATATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATTATATATATACATATTATATATTATATATATAA TATATATACATATTATATTATATATAATATATATACATATTATATTATAT ATAATATATATACATATTATATTATATATAATATATATACATATTATATA TATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(301): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGTGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGT CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGTGTGGAGGGGGGGCGCGTG GGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGG AGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0144 a0001c0001t0008g0144	1	218	0.0046	308	c.159 others(325): Show c.1596+173_1596+174insGGGGCGTGTGGGGGGGGCGCATGGGGGG GCGTGGAGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGGCGCGTGGGGGGGGTGTGGAGGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTHFSD_chr16_86525186_86560235	86528908	T T	TGGCTATG others(301): Show TGGCTATGTTTCATTTTATTTTTTTTTTTTTTTTTTTTTTTTTATTTTAT TTTATTTTATTTTTTTTATTTTTTATTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTGGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0205 a0004c0004t0008g0205	1	404	0.0025	308	c.31 others(319): Show c.3102_*3103insTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACCAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAA TAAAAAATAAAAAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAA AAAAAAATAAAATGAAACATAGCC	MTHFSD	ENSG00000103248.19	transcript	ENST00000360900.11	protein_coding		1277		chr16	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(301): Show TTTAAGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTC GCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	134	0.0075	308	c.286 others(329): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCAATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19066.hp1 HG00438.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0154 a0001c0001t0001g0109 a0001c0001t0001g0154	2	151	0.0132	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC AATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02015.hp2 HG02040.hp2 others(7): Show HG01255.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 NA18747.hp2 NA18952.hp1 NA18964.hp2 NA18970.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0005g0068 a0001c0001t0013g0129	10	159	0.0629	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATATATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0037 a0003c0007t0001g0037	1	150	0.0067	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATATATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084391	A A	AATACACA others(301): Show AATACACATCTATGTATTATATATTGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATA CACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATAT ATCGATAGATAATACACATCTCTGTATTATATATCGATAATACACATCTA TGTATTATATATCGATATATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0018 a0002c0017t0007 a0001c0001t0018 a0002c0017t0007	a0001c0001t0018g0095 a0002c0017t0007g0094 a0001c0001t0018g0095 a0002c0017t0007g0094	2	151	0.0132	308	c.332 others(327): Show c.332+40120_332+40121insATACACATCTATGTATTATATATTGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTCTGTAT TATATATCGATAATACACATCTATGTATTATATATCGATATATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(301): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGAGGAGA GAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGG GGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01109.hp1 others(20): Show HG00280.hp1 HG01069.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG02004.hp1 HG02135.hp1 HG02630.hp2 HG02738.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18966.hp2 NA19002.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0044 a0001c0003 a0001c0010 a0001c0044	a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 others(6): Show a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0001c0003t0037 a0001c0003t0078 a0001c0003t0083 a0001c0003t0085 a0001c0010t0082 a0001c0044t0007	a0001c0003t0005g0006 a0001c0003t0005g0009 a0001c0003t0005g0015 others(20): Show a0001c0003t0005g0006 a0001c0003t0005g0009 a0001c0003t0005g0015 a0001c0003t0005g0090 a0001c0003t0005g0125 a0001c0003t0007g0112 a0001c0003t0007g0172 a0001c0003t0007g0176 a0001c0003t0007g0177 a0001c0003t0007g0178 a0001c0003t0007g0285 a0001c0003t0007g0315 a0001c0003t0007g0340 a0001c0003t0007g0341 a0001c0003t0014g0007 a0001c0003t0014g0012 a0001c0003t0014g0252 a0001c0003t0037g0199 a0001c0003t0078g0229 a0001c0003t0083g0326 a0001c0003t0085g0014 a0001c0010t0082g0298 a0001c0044t0007g0164	23	29	0.7931	308	c.887 others(325): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCC TCCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCG CCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCC TCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTC CCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(301): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGAGAGAG GAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGG GGGAGGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(39): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02135.hp2 HG02257.hp1 HG02735.hp2 HG03491.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0035 a0001c0002 a0001c0005 a0001c0035	a0001c0002t0003 a0001c0002t0015 a0001c0002t0016 others(11): Show a0001c0002t0003 a0001c0002t0015 a0001c0002t0016 a0001c0002t0045 a0001c0002t0051 a0001c0002t0053 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0061 a0001c0005t0030 a0001c0005t0031 a0001c0035t0097	a0001c0002t0003g0080 a0001c0002t0003g0084 a0001c0002t0003g0102 others(39): Show a0001c0002t0003g0080 a0001c0002t0003g0084 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0121 a0001c0002t0003g0138 a0001c0002t0003g0148 a0001c0002t0003g0160 a0001c0002t0003g0169 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0002t0003g0205 a0001c0002t0003g0227 a0001c0002t0003g0243 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0015g0129 a0001c0002t0015g0144 a0001c0002t0015g0185 a0001c0002t0016g0026 a0001c0002t0016g0131 a0001c0002t0045g0153 a0001c0002t0051g0303 a0001c0002t0053g0021 a0001c0002t0056g0307 a0001c0002t0057g0337 a0001c0002t0058g0147 a0001c0002t0059g0110 a0001c0002t0061g0239 a0001c0005t0030g0293 a0001c0005t0030g0320 a0001c0005t0031g0029 a0001c0005t0031g0030 a0001c0035t0097g0289	42	48	0.8750	308	c.887 others(325): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCG CCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCC TCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTC CCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(301): Show GGAGGGAGGGAAGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGG GAGGGAAGGAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGA CGGAGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGG GGGAGGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0036 a0001c0009t0036	a0001c0009t0036g0091 a0001c0009t0036g0091	1	7	0.1429	308	c.887 others(325): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTC CCGCCCTCCTGCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCT CCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTC CTCCCTCCCTCTTCCCTCCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFA5_chr7_123531997_123562818	123554488	A A	ACAATTTA others(301): Show ACAATTTATAAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01243.hp2 others(11): Show HG00140.hp1 HG01168.hp1 HG01243.hp2 HG01516.hp1 HG02109.hp1 HG02258.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03139.hp2 HG03654.hp1 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052	14	411	0.0341	308	c.66+ others(323): Show c.66+2915_66+2916insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAACTTATAAATTG	NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding	2/4			chr7	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG03579.hp2 HG02723.hp1 HG02723.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0052	3	195	0.0154	308	c.98 others(317): Show c.980_*981insTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCA GGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTG GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(301): Show TAATATATATTATATATAAATATATATAATATATAATATATATTATATAT AAATATATATAATATATAATATATATTATATATAAATATATATATAATAT ATATTATATATTATATATAAATATATAATATATAATATATATTATATTAT ATATTATATAATATGTAAATATATATTATATATATTATATAATATATAAT ATATTATATATATTATATAATATATTATATATAATATAATATATTATATA TTATATAATATATTATATATTATATAATATATTATATATAATATATAATA TATTATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0030 a0002c0003t0030	a0002c0003t0030g0207 a0002c0003t0030g0207	1	202	0.0050	308	c.48+ others(323): Show c.48+1020_48+1021insAATATATATTATATATAAATATATATAATA TATAATATATATTATATATAAATATATATAATATATAATATATATTATAT ATAAATATATATATAATATATATTATATATTATATATAAATATATAATAT ATAATATATATTATATTATATATTATATAATATGTAAATATATATTATAT ATATTATATAATATATAATATATTATATATATTATATAATATATTATATA TAATATAATATATTATATATTATATAATATATTATATATTATATAATATA TTATATATAATATATAATATATTATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NEGR1_chr1_71390943_72287539	71928161	C C	CACATGTA others(301): Show CACATGTATATATGTATATATACACACACATGTGTATATACACATATGTA TATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACACATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTATATACG TATATATGTATATATACACACATATGTATATACGTATATATGTATATATA CACACATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	44	0.0227	308	c.409 others(325): Show c.409+6917_409+6918insATATGTGTGTATATATACATATATACGT ATATACATATGTGTGTATATATACATATATACGTATATACATATGTGTGT ATATATACATATATACATATGTGTATATACACATATGTGTGTATATATAC ATATATACATATGTGTATATACACATATGTGTGTATATATACATATATAC ATATGTGTATATACACATGTGTGTGTATATATACATATATACATATGTGT ATATACACATATGTGTGTATATATACATATATACATATGTGTATATACAC ATGTGTGTGTATATATACATATATACATGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NELL2_chr12_44503278_44881315	44737351	T T	TCAATAAC others(301): Show TCAATAACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0055	1	139	0.0072	308	c.995 others(327): Show c.995-22611_995-22610insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAGTTATTG	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	9/19			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807928	C C	CTCTCCCT others(301): Show CTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGAT GTCTGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	316	0.0032	308	c.-13 others(319): Show c.-1350_-1349insTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTC CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTC CCTCAGCCCAGGGATGTCTGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1264		chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(301): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	162	0.0062	308	c.-74 others(325): Show c.-74-6203_-74-6202insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(301): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0227 a0001c0003t0010g0227	1	162	0.0062	308	c.-74 others(325): Show c.-74-6203_-74-6202insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(301): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATAAATATATATTTATGTATGTG CATACATATATATATATTTATGTATGTGCATAAATACATATATATTTATG TATGTGCATAAATACATATATATTTATGTATGTGCATAAATATATATATA TATTTATGTATGTGCATAAATATATATATATATATTTATGTATGTGCATA AATATATATATATATTTATGTATGTGCATAAATATATATATATTTATGTA TGTGCATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 NA20129.hp1 HG02717.hp1 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0028 a0001c0001t0034 a0001c0001t0018 a0001c0001t0028 a0001c0001t0034	a0001c0001t0018g0004 a0001c0001t0028g0029 a0001c0001t0034g0025 a0001c0001t0018g0004 a0001c0001t0028g0029 a0001c0001t0034g0025	3	32	0.0938	308	c.707 others(329): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATAAATATATATTTATGTATGTGCATACATATATATATATTTATGTATG TGCATAAATACATATATATTTATGTATGTGCATAAATACATATATATTTA TGTATGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATA TATATATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTG CATAAATATATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP8_chr19_55942832_55993629	55993534	C C	CCCCTCCC others(301): Show CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCTCCACCTCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0004 a0004c0033t0004	a0004c0033t0004g0150 a0004c0033t0004g0150	1	306	0.0033	308	c.56 others(319): Show c.5621_*5622insCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCACCTCCCTCCCCCTCCCCCCCTCCC CTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4906		chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(301): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	157	0.0064	308	c.91+ others(321): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148890	A A	ACCTCGGT others(301): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0122 a0003c0032t0001g0122	1	243	0.0041	308	c.901 others(321): Show c.901+61_901+62insGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148957	A A	ACTCACAC others(301): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0106 a0008c0025t0001g0106	1	230	0.0043	308	c.901 others(321): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149006	T T	TACCACAC others(301): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCCCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	166	0.0060	308	c.901 others(323): Show c.901+149_901+150insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCCCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149534	C C	CACCACAC others(301): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCC AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCCAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCCAATCCCCTCGGT GAGTGCGGCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	227	0.0044	308	c.901 others(323): Show c.901+677_901+678insGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCCAATCCCCTCGGTGAGTGCGGCCGCCTCACTC CTACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149749	G G	GCTCACAC others(301): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	243	0.0041	308	c.901 others(323): Show c.901+888_901+889insGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150448	G G	GCTCACAC others(301): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	236	0.0042	308	c.902 others(323): Show c.902-490_902-489insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150541	C C	CACCACAC others(301): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	228	0.0044	308	c.902 others(323): Show c.902-402_902-401insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150624	G G	GCTCCTAC others(301): Show GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	226	0.0044	308	c.902 others(323): Show c.902-354_902-353insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150672	A A	ACACCACA others(301): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	236	0.0042	308	c.902 others(323): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150672	A A	ACACCACA others(301): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCACTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	236	0.0042	308	c.902 others(323): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NPAT_chr11_108152215_108227638	108180542	C C	CAAAAAAT others(301): Show CAAAAAATGACACGTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCGTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	346	0.0029	308	c.907 others(325): Show c.907-3453_907-3452insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCG CTCACTGCACGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCACGTGTCATTTTTT	NPAT	ENSG00000149308.17	transcript	ENST00000278612.9	protein_coding	10/17			chr11	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(301): Show AAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	35	0.0286	308	c.-10 others(329): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(301): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02630.hp2 HG03239.hp2 others(1): Show HG00280.hp2 HG02630.hp2 HG03239.hp2 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0007 a0001c0001 a0003c0003 a0007c0007	a0001c0001t0001 a0003c0003t0006 a0003c0003t0008 others(1): Show a0001c0001t0001 a0003c0003t0006 a0003c0003t0008 a0007c0007t0001	a0001c0001t0001g0072 a0003c0003t0006g0035 a0003c0003t0008g0037 others(1): Show a0001c0001t0001g0072 a0003c0003t0006g0035 a0003c0003t0008g0037 a0007c0007t0001g0064	4	316	0.0127	308	c.-30 others(319): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0014 a0005c0006t0001g0014	1	263	0.0038	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0013 a0008c0013t0003g0013	1	263	0.0038	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG03098.hp1 others(1): Show HG02809.hp1 HG02886.hp1 HG03098.hp1 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0012 a0005c0006t0001g0016 a0005c0006t0001g0017 others(1): Show a0005c0006t0001g0012 a0005c0006t0001g0016 a0005c0006t0001g0017 a0005c0006t0001g0020	4	266	0.0150	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTATTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAAAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0015 a0005c0006t0001g0015	1	263	0.0038	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTTTATTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATAAATAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0018 a0005c0006t0001g0018	1	263	0.0038	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTATTTATTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATAAAATAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0017 a0005c0006t0017	a0005c0006t0017g0019 a0005c0006t0017g0019	1	263	0.0038	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTATTTTATTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar

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