Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
GABRG3_chr15_26966181_27546984	27455533	T T	TATGCTAT others(172): Show TATGCTATGTGTGGTTTGTGAGTTTGTGTGTGGTGTGTGTGTGGTGTGTA TGTGTGCTATGTGTGTGTGCATTTGTATATATGTGCATGGTATATGTATG CCGTGGGTGGTTTGTGTGTGTGATGTGTGTGTGTATGTGTGCTGTGTGTG TGCATTTGTGTATATGTGCATGGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01070.hp2 others(25): Show HG00408.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0016 a0001c0018	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(18): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0028 a0001c0001t0034 a0001c0002t0001 a0001c0002t0016 a0001c0003t0001 a0001c0003t0019 a0001c0004t0002 a0001c0004t0005 a0001c0005t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0004 a0001c0007t0036 a0001c0010t0017 a0001c0012t0003 a0001c0013t0023 a0001c0016t0001 a0001c0018t0004	a0001c0001t0001g0038 a0001c0001t0001g0087 a0001c0001t0001g0091 others(25): Show a0001c0001t0001g0038 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0007g0014 a0001c0001t0012g0025 a0001c0001t0028g0054 a0001c0001t0034g0088 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0083 a0001c0002t0016g0012 a0001c0003t0001g0066 a0001c0003t0019g0064 a0001c0004t0002g0061 a0001c0004t0005g0050 a0001c0005t0002g0067 a0001c0006t0003g0020 a0001c0006t0003g0069 a0001c0007t0001g0048 a0001c0007t0004g0056 a0001c0007t0036g0016 a0001c0010t0017g0003 a0001c0012t0003g0068 a0001c0013t0023g0006 a0001c0016t0001g0074 a0001c0018t0004g0053	28	92	0.3044	179	c.575 others(198): Show c.575-25013_575-24835dupGGGTGGTTTGTGTGTGTGATGTGTGT GTGTATGTGTGCTGTGTGTGTGCATTTGTGTATATGTGCATGGTGTGTGC ATGCTATGTGTGGTTTGTGAGTTTGTGTGTGGTGTGTGTGTGGTGTGTAT GTGTGCTATGTGTGTGTGCATTTGTATATATGTGCATGGTATATGTATGC CGT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALR1_chr18_77244848_77282900	77259163	A A	ATGGTCAT others(172): Show ATGGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGAT TGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTG GTGTTGGTGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGGTGTTGGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0235 a0001c0001t0019g0235	1	366	0.0027	179	c.732 others(196): Show c.732+2944_732+2945insCATGGTGGTGATGACGGTGATGATGATG GTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCA CAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGCGATTGTGGTG ATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGG T	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPIHBP1_chr8_143208218_143222170	143218146	C C	CCACACAC others(172): Show CCACACACCCCCAACACCACCCAACACCACCCCACACCACCCCCAACACC ACCCCCAACACCACCCCAACACCACCCCCAACACCACCCAACACCACCCC AACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACCA CCCCCAACACCATCCCCCACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	179	c.26 others(190): Show c.2628_*2629insCACACACCCCCAACACCACCCAACACCACCCCAC ACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCAACACCACCCCAACACCACCCCCACCACCCCCAACACCACCCCAAC ACCACCCCAACACCACCCCCAACACCATCCCCCACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		977		chr8	TogoVar
GPR35_chr2_240620480_240638159	240625738	C C	CGGGGTCT others(172): Show CGGGGTCTCAGAGTGGGGTGAGGCAGTGATGGGTGTCTCAGAGTGGGGTG AGGCTGTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATGGGGTCTCAG AGCGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGAC GGGGTCTCAGAGCGAGGTGAGGCTGTGATG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	400	0.0025	179	c.-5+ others(192): Show c.-5+170_-5+171insGGGGTCTCAGAGTGGGGTGAGGCAGTGATGGG TGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAAG CTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGACGGGGGTTCTCAGAG CGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1			chr2	TogoVar
GRM5_chr11_88499642_89070982	88687573	A A	ATTATATA others(172): Show ATTATATATATATTATATATATATTATATATATATATTATATATATATTA TATATATTATATATATATTATATATATATTATATATATATTATATATATA TTATATATATATATTATATATATAATATATATAATATATATATTATATAT ATATATATTATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02723.hp1 HG02886.hp1 others(1): Show HG01074.hp1 HG02723.hp1 HG02886.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0002c0007t0018 a0001c0001t0001 a0001c0001t0006 a0002c0007t0018	a0001c0001t0001g0011 a0001c0001t0006g0010 a0001c0001t0006g0177 others(1): Show a0001c0001t0001g0011 a0001c0001t0006g0010 a0001c0001t0006g0177 a0002c0007t0018g0128	4	184	0.0217	179	c.912 others(198): Show c.912-34171_912-34170insATATATATATTATATATATATAATAT ATATATATATAATATATATATTATATATATTATATATATAATATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATAATATATATATAATATATATATATAATATATATATAATATATATA TAA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
IFITM10_chr11_1727406_1755595	1754499	T T	TGGGGATG others(172): Show TGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATG GAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGAT GGAGGGTCATGAAGAGTCACAGAGGGATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	179	c.-40 others(190): Show c.-4058_-4057insTCATCCCTCTGTGACTCTTCATGACCCTCCATCT CCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCTCCATC TCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCAT CCCTCCATCCCCACATCCCCTCCATCCCTCCATCCCTCCATCCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3905		chr11	TogoVar
IFT140_chr16_1505427_1617072	1599403	G G	GCCGTCCG others(172): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGG GGGTCAGCCCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0009 a0003c0031t0009	a0003c0031t0009g0140 a0003c0031t0009g0140	1	334	0.0030	179	c.369 others(196): Show c.369+2966_369+2967insGGCGGCTGGCCGGGTGGGGGGGGCTGAC CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG G	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599420	T T	TGGGGGGG others(172): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCC GGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	334	0.0030	179	c.369 others(196): Show c.369+2949_369+2950insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC C	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IHO1_chr3_49194498_49263106	49200499	G G	GAGAGGAG others(172): Show GAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAGAAGAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	196	0.0051	179	c.-16 others(194): Show c.-16+927_-16+928insGAGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAGAAAAGAAAAGAA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IL10_chr1_206762602_206777494	206777230	C C	CAAAAAAA others(172): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCTAGGTGTGGTGGTTG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGCGTGA ACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	452	0.0022	179	c.-47 others(190): Show c.-4796_-4795insTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGACGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAC GCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCAAC CACCACACCTAGCTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT	IL10	ENSG00000136634.7	transcript	ENST00000423557.1	protein_coding		4737		chr1	TogoVar
IL19_chr1_206765773_206847981	206777230	C C	CAAAAAAA others(172): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCTAGGTGTGGTGGTTG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGCGTGA ACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	366	0.0027	179	c.-14 others(198): Show c.-149+6178_-149+6179insAATTTAGCTAGGTGTGGTGGTTGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGCGTGAACC TGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAA	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(172): Show CCCCTTCTCTCCCCTCCCTTCCCTCCACTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCGTCC CCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	135	0.0074	179	c.703 others(200): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCACTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTC CCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(172): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCGTCC CCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(49): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02622.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18967.hp1 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19060.hp1 NA19070.hp1 NA19082.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0068 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0049 a0001c0001t0004g0006 a0001c0001t0004g0073 a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0126 a0001c0001t0005g0007 a0001c0001t0005g0056 a0001c0001t0005g0074 a0001c0001t0005g0125 a0001c0001t0007g0066 a0001c0001t0009g0130 a0001c0001t0010g0036 a0001c0001t0011g0024 a0001c0001t0012g0032 a0001c0001t0012g0040 a0001c0001t0013g0062 a0001c0001t0014g0097 a0002c0003t0001g0088	52	135	0.3852	179	c.703 others(200): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTC CCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(172): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCCATCCCC TCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCATCC CCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp1 HG02572.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0051 a0001c0001t0001g0001 a0001c0001t0011g0051	2	135	0.0148	179	c.703 others(200): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTC CCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(172): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCGTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCGTCC CCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0046 a0001c0001t0015g0046	1	135	0.0074	179	c.703 others(200): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCGTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTC CCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(172): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTTCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCTTTCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCGTCC CCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	135	0.0074	179	c.703 others(200): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCTTTCCCTCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTC CCTTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775011	G G	GGAGGGGC others(172): Show GGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGG GCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGAGAGGGGCAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04199.hp2 HG01109.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0010g0047 a0001c0001t0010g0048	2	204	0.0098	179	c.978 others(196): Show c.978-2641_978-2640insGGGCAGGGAGGAGGGACGGAGGAGAGAG GGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG G	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INTS4_chr11_77873720_77999668	77903420	G G	GCCACAAC others(172): Show GCCACAACTTTTCCTGCAAGGCCTACACAGACAGAGCTATAGGAAGGCCT CTGGCTCTGTCTTGGACCAGACAATTACTGGACAGAGACCTATTTGAAGG GAAGGTCTGAATAAGCTTACCTGTTTCGCTGCTGCTGAGGCCAAATCACT CTGCTTCAAATACAAAGGGGCAGCTACATT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	362	0.0028	179	c.203 others(192): Show c.2038_2097+119dupAATGTAGCTGCCCCTTTGTATTTGAAGCAGAG TGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCC TTCAAATAGGTCTCTGTCCAGTAATTGTCTGGTCCAAGACAGAGCCAGAG GCCTTCCTATAGCTCTGTCTGTGTAGGCCTTGCAGGAAAAGTTGTGG	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	17/22			chr11	TogoVar
ITM2C_chr2_230859942_230884248	230881272	A A	ATTTTTTT others(172): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	398	0.0025	179	c.31 others(190): Show c.3173_*3174insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding		2025		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132160328	C C	CCCTGTGT others(172): Show CCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGTCT CTCCCTGTGTGATGCTGGGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGT CTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGTG TCTTCCTGTGTGACGCTGGGGGCGTGTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG06807.hp1 HG00099.hp2 HG06807.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0026 a0002c0026t0001 a0002c0026t0026	a0002c0026t0001g0106 a0002c0026t0026g0043 a0002c0026t0001g0106 a0002c0026t0026g0043	2	158	0.0127	179	c.222 others(198): Show c.2221-2864_2221-2863insGCGTGTCTTCCTGTGTGATGCTGGGG GGGTCTCTCCCTGTGTGATGCTGGGGGGGTCTCCCTGTGTGATGCTGGGG GCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGG GGCGTGTCTTCCTGTGTGACGCTGGGGGCGTGTCTTCCTGTGTGATGCTG GGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132172970	T T	TTTCTTCC others(172): Show TTTCTTCCTTCTCTCTCTCTCTCCCTCTCCTCCCTCTCCCTCGCCCTCTC TCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCTCCCCACTCTCCTTACCTCTCTCTCTCT CCCCCTCTCCTTCCCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0016	1	158	0.0063	179	c.11 others(200): Show c.1103+3937_*1103+3938insTTCTTCCTTCTCTCTCTCTCTCCC TCTCCTCCCTCTCCCTCGCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCT CCCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCC CCACTCTCCTTACCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTC TCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar
JAZF1_chr7_27825577_28185795	28110504	A A	AAAGGAAA others(172): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	206	0.0049	179	c.115 others(198): Show c.115+69958_115+69959insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KCNG2_chr18_79792938_79905100	79809547	C C	CGGTCCCA others(172): Show CGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACAC ACTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp2 others(10): Show HG00099.hp1 HG00323.hp1 HG00438.hp2 HG00639.hp2 HG01433.hp2 HG01934.hp2 HG02109.hp2 HG02818.hp2 HG03471.hp2 NA18950.hp1 NA18994.hp2 NA19009.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0001c0001t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0001g0186 others(10): Show a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0300 a0001c0005t0001g0197 a0001c0005t0001g0198 a0002c0002t0001g0183 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192	13	312	0.0417	179	c.-11 others(200): Show c.-115+11533_-115+11534insGGTCCCAGAGTCCTCGCCCTGAGG AGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCG CGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGGC CCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCA CGTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3			chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809547	C C	CGGTCCCA others(172): Show CGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACAC ACTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCATGTTA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19088.hp2 NA18957.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0206 a0001c0003t0001g0196 a0001c0001t0001g0206 a0001c0003t0001g0196	2	312	0.0064	179	c.-11 others(200): Show c.-115+11533_-115+11534insGGTCCCAGAGTCCTCGCCCTGAGG AGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCG CGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGGC CCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCA TGTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3			chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809547	C C	CGGTCCCA others(172): Show CGGTCCCAGAGTCCTCGCCCTGAGGAGCTTCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACAC ACTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0230 a0001c0001t0001g0177 a0001c0001t0001g0230	2	312	0.0064	179	c.-11 others(200): Show c.-115+11533_-115+11534insGGTCCCAGAGTCCTCGCCCTGAGG AGCTTCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCG CGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGGC CCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCA CGTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3			chr18	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(172): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATTTTAT ATATATAATATATATTATATATTTTATATATATAAAATATATAATATATA ATATATATTATATATATAAAATATATAATATATATTATATATTTTATATA TATAAAATATATAATATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	278	0.0036	179	c.199 others(196): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTTTATATATATAATATATATTATATATTTTATATATATA AAATATATAATATATAATATATATTATATATATAAAATATATAATATATA TTATATATTTTATATATATAAAATATATAATATATATTATATATTTTATA T	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(172): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATTTTAT ATATATAATATATATTATATATTTTATATATTTTATATATATAATATATA TTATATATTTTATATATATAAAATATATAATATATAATATATATTATATA TATAAAATATATAATATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	278	0.0036	179	c.199 others(196): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTTTATATATATAATATATATTATATATTTTATATATTTT ATATATATAATATATATTATATATTTTATATATATAAAATATATAATATA TAATATATATTATATATATAAAATATATAATATATATTATATATTTTATA T	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(172): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGG GCAGTGGCGTGGGGGGCGGGGCAGTGGCGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0186 a0186	a0186c0108 a0186c0108	a0186c0108t0001 a0186c0108t0001	a0186c0108t0001g0206 a0186c0108t0001g0206	1	310	0.0032	179	c.143 others(196): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCAC TGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCC C	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRRC74A_chr14_76821408_76875304	76866963	T T	TTGGGGAG others(172): Show TTGGGGAGGTGGGGTGTGTGTGTGGTAGTGTGGGGGTGTGTGTGTTGGGG GTGGGGTGTGTGTGTGCGTGTGGTAGTGTGTGTGTGGGGTGTGTGGGTGT GTTGGGGGGTGGGGTGTGTGTGTGTGTGGGGTGTGTGTTGGGGGGTGGGG TGTGTGTTGGGGGGTGGGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG02280.hp2 others(3): Show HG00323.hp1 HG01109.hp2 HG02280.hp2 HG02735.hp1 NA18968.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0001c0001t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0176 a0001c0001t0003g0014 a0003c0003t0001g0348	6	408	0.0147	179	c.130 others(196): Show c.1309-393_1309-392insTGGGGAGGTGGGGTGTGTGTGTGGTAGT GTGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTGCGTGTGGTAGTGT GTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGG GGTGTGTGTTGGGGGGTGGGGTGTGTGTTGGGGGGTGGGGTGTGTGTGTG G	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564165	A A	ATATATAT others(172): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTTTTATATATATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG02280.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0065 a0001c0002t0001g0066	2	282	0.0071	179	c.831 others(196): Show c.831-8473_831-8472insAATATATATATAAATATATATAAATATA TATATAAATATATATATAAATATATATAAATATATATATATATAAAAAAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAT AAATATATATATAAATATATATATATAAATATATATATAAATATATATAT A	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
MAEA_chr4_1284891_1345137	1317095	C C	CACTCACC others(172): Show CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCA CACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0183 a0001c0001t0001g0184	2	388	0.0052	179	c.456 others(196): Show c.456+1550_456+1551insGGTCCCACACTCCAGACTCACCCCCAGG CCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACC C	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19237956	T T	TAGAATTT others(172): Show TAGAATTTTATATAGTTATATATAATTATATAGAATTTTATATAGTTATA TATAATTATATAGAATTTTATATAGTTATATATAATTATATAGAATTTTA TATAGTTATATATAATTATATAGAATTTTATATAGTTATATACATTATAA ATAATTTTATATAGTTATATATAATTATGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0072 a0072	a0072c0088 a0072c0088	a0072c0088t0001 a0072c0088t0001	a0072c0088t0001g0013 a0072c0088t0001g0013	1	152	0.0066	179	c.299 others(200): Show c.2992-19728_2992-19727insAGAATTTTATATAGTTATATATAA TTATATAGAATTTTATATAGTTATATATAATTATATAGAATTTTATATAG TTATATATAATTATATAGAATTTTATATAGTTATATATAATTATATAGAA TTTTATATAGTTATATACATTATAAATAATTTTATATAGTTATATATAAT TATGA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGGGG others(172): Show TGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCATGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0256 a0001c0001t0162g0256	1	370	0.0027	179	c.855 others(196): Show c.855+9382_855+9383insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGG G	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478019	A A	AGGGGAGA others(172): Show AGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	163	0.0061	179	c.525 others(196): Show c.525+8462_525+8463insCCCCCCTCCCCCCTCTCCCCCCTCCCCC CTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCC C	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(172): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	181	0.0055	179	c.107 others(198): Show c.1073+5181_1073+5182insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(172): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGGGGGACCTGGGG GTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGGG AGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAG AGGGACTTGGAGGTTGGGGGAGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00597.hp2 others(13): Show HG00140.hp2 HG00408.hp2 HG00597.hp2 HG01168.hp1 HG01169.hp1 HG02922.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp2 NA18983.hp1 NA18986.hp2 NA19056.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0046 a0001c0001t0002g0013 a0001c0001t0002g0022 others(13): Show a0001c0001t0001g0046 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0003g0060 a0001c0001t0005g0080 a0001c0001t0007g0083 a0001c0001t0012g0064 a0001c0002t0003g0170 a0001c0003t0001g0318	16	382	0.0419	179	c.-80 others(188): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCGACTTCCCACTCCCTCC ACCTCCAGGTCCCCTTCTTCCCACGAACCCCCCACTTCCTCCACCCCCAG GTCCCCCACTCCCCCCAACCCCCCACTTTCCACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(172): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0218 a0001c0002t0008g0218	1	256	0.0039	179	c.241 others(198): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	769259	A A	AGCCCCGG others(172): Show AGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCAG CCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCC CCACCCCCGGCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCG GCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0307	1	388	0.0026	179	c.52 others(188): Show c.526_*527insGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCG GCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACC CCCGGCCCCGGCCCCACCCCCGGCCCGGCCCCAGCCCCAGCCCCGGCCCC ACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		398		chr16	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(172): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA TAATATATAATATATATAATATATATTATATATATAATATATAATATATA ATATATATTATTATATATAATATATATTATATATAATATATATTATATAT ATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	334	0.0030	179	c.547 others(196): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATAATAATATAT ATTATATATTATATATTATATATATAATATATATTATATATATTATATAT TATATATATAATATATATTATATATTATATATTATATATATAATATATAT T	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
NCAM2_chr21_20993409_21548329	21331506	A A	ACTCTATA others(172): Show ACTCTATATATATATATATATATATATATATATATATATATATACACTCT ATATACATATATATATATACTCTATATACATATATATATACTCTATATAT ATACTCTCTCTATATATATATACTCTCTCTCTCTATATATATATATACTC TCTCTCTCTCCATATATATATATATATACT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0006 a0003c0005t0005g0006	1	132	0.0076	179	c.738 others(196): Show c.738-3995_738-3994insATATATATATATATATATATATATATAT ATATATATATACACTCTATATACATATATATATATACTCTATATACATAT ATATATACTCTATATATATACTCTCTCTATATATATATACTCTCTCTCTC TATATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTC T	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(172): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	132	0.0076	179	c.738 others(196): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATAGAGAGAGAGAG A	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(172): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0110 a0001c0001t0021g0110	1	132	0.0076	179	c.738 others(196): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATAGAGAGAGAG A	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(172): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	132	0.0076	179	c.738 others(196): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATATAGAGAG A	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(172): Show TACTCTATATATATACTCTATATATATATATATACTCTCTCTCTATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0054 a0002c0002t0015g0054	1	132	0.0076	179	c.738 others(196): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTCTCTCTATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATAGAGAGAGAGAG A	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(172): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00621.hp2 others(16): Show HG00323.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG01106.hp2 HG01891.hp1 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG03130.hp2 HG03453.hp1 HG04199.hp1 NA18953.hp1 NA18979.hp2 NA19006.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003	19	419	0.0454	179	c.58 others(190): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(172): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19075.hp2 NA19006.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	419	0.0048	179	c.58 others(190): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853900	G G	CCCGGGCG others(172): Show CCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	419	0.0024	179	c.58 others(190): Show c.5819_*5820insCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGG	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3759		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853917	A A	ACCCCCCC others(172): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02055.hp2 HG02615.hp1 others(3): Show HG00597.hp2 HG02055.hp2 HG02615.hp1 HG03710.hp1 NA18993.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0007g0010 a0001c0004t0002g0028	6	419	0.0143	179	c.58 others(190): Show c.5801_*5802insGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3741		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853957	C C	CGGGGGGC others(172): Show CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	179	c.57 others(190): Show c.5761_*5762insCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3701		chr6	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(172): Show ACCCCTCCCCCGACCTCCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCT CCCCCGACCTCCCCCTTCCCCCCCCGACCTACACCCCGCCCCCCCTACCT CCCCCCTCCCCGTGACCTGCCCCCCCGAACTCCTCCCCATCCCGCCCCCC GACCTCCCCCCCGCCCCCCCTCCCCCCGGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0295 a0002c0012t0002g0295	1	322	0.0031	179	c.127 others(196): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCCGCGCCCCGA CCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCCGACCTACA CCCCGCCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCCGAACTCC TCCCCATCCCGCCCCCCGACCTCCCCCCCGCCCCCCCTCCCCCCGGCCCC C	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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