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
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(276): Show GAGAGAGAGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGATGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACA GACAGAGACAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	283	c.29 others(294): Show c.2942_*2943insAGAGAGAGAGGGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGATGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGACAGACAGAGACAGACAGAGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DPEP1_chr16_89608642_89643433	89619488	C C	CCCCCCCG others(276): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCTCTGCAGCCCCCTGGTCCCCCTGCTCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCTCCCTCTGCTCCCCTCCCTGTAGCTCCCT GCAGCCCCCTGCTCCCCTCCCTGCACCCCTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0051 a0002c0002t0003g0051	1	250	0.0040	283	c.-10 others(302): Show c.-107+5774_-107+5775insCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCTCTGCAGCCCCCTGGT CCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCTCTGCTC CCCTCCCTGTAGCTCCCTGCAGCCCCCTGCTCCCCTCCCTGCACCCCTTT TGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(276): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0127 a0003c0004t0002g0127	1	250	0.0040	283	c.105 others(300): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635196	T T	TCCTTTCC others(276): Show TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCCCCTTCCT TCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	250	0.0040	283	c.105 others(298): Show c.105-704_105-703insTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCCCCTTCCTTCCCTTT CCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(276): Show ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATGTATATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0308 a0001c0001t0010g0308	1	316	0.0032	283	c.355 others(302): Show c.355-25607_355-25606insGTATATATATAGTATATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATGTATATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATATAGTATATATATATAGT ATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCACCCC others(276): Show CCCACCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0342 a0005c0005t0001g0342	1	356	0.0028	283	c.-24 others(300): Show c.-248+505_-248+506insACCCCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(276): Show CCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0212 a0005c0005t0001g0212	1	356	0.0028	283	c.-24 others(300): Show c.-248+507_-248+508insCCCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EHMT1_chr9_137614005_137841127	137716460	T T	TGGGGGGG others(276): Show TGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0021 a0001c0002 a0006c0021	a0001c0002t0001 a0006c0021t0001 a0001c0002t0001 a0006c0021t0001	a0001c0002t0001g0017 a0006c0021t0001g0016 a0001c0002t0001g0017 a0006c0021t0001g0016	2	170	0.0118	283	c.86- others(296): Show c.86-161_86-160insGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGG G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99927930	A A	ATGGTGGT others(276): Show ATGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTAGTGGTGGTGGGGGGGGTGGGGGGGTGGTGGT GGTGGTGGTATTGGTGGTGGGGGGGGTGGGGGGGTGGTGGTGGTGGTGGT ATTGGTGGTGGTGATGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGG TGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0031 a0002c0001t0002g0031	1	288	0.0035	283	c.190 others(302): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTAGTGGTGGTGGGGGGGGTGGGGGGGTGGTGGTG GTGGTGGTATTGGTGGTGGGGGGGGTGGGGGGGTGGTGGTGGTGGTGGTA TTGGTGGTGGTGATGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGT GGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTG GTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(276): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGG AAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGG ACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	412	0.0024	283	c.120 others(300): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC TGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCC TTTCTTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTT TCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCT CCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPHA6_chr3_96809594_97766532	97055991	C C	CATATTCT others(276): Show CATATTCTATACTTTTTTTTTTTTTTCTTTTTTAATTATTATTATTATTA TACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCACTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGTGGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp2 HG03579.hp2 HG02486.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0030 a0001c0002t0001g0074 a0001c0002t0024g0031 a0001c0002t0001g0030 a0001c0002t0001g0074 a0001c0002t0024g0031	3	82	0.0366	283	c.111 others(304): Show c.1114+68011_1114+68012insTTTTTTTTTTTTCTTTTTTAATTA TTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAC GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCACTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGTGGTGATAT TCTATACTT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXD3_chr9_137301896_137428162	137355570	T T	TGGAGGAA others(276): Show TGGAGGAAGGAGGAATGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAA GGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAG GGAGGATGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAG GAGGAAGGAGGATGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGAGGAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0026 a0026	a0026c0013 a0026c0013	a0026c0013t0001 a0026c0013t0001	a0026c0013t0001g0074 a0026c0013t0001g0074	1	82	0.0122	283	c.757 others(298): Show c.757+697_757+698insTTCCTCCTTCCTCCTTCCTCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCTCCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCCTCCTT CCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCATC CTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCATC CTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCATTCCTCCTTCC TCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355621	G G	GGAGAAAG others(276): Show GGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGA AGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGGA GGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0038 a0016c0021t0001g0038	1	82	0.0122	283	c.757 others(298): Show c.757+646_757+647insTTCCTCCCTTCCTCCATCCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTTCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTT CTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FMN2_chr1_240086883_240480187	240184948	T T	TCCCCTTC others(276): Show TCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0061 a0061	a0061c0129 a0061c0129	a0061c0129t0008 a0061c0129t0008	a0061c0129t0008g0156 a0061c0129t0008g0156	1	174	0.0058	283	c.193 others(302): Show c.1931-3235_1931-3234insACTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	AAGAAGGG others(276): Show AAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAG GGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0028 a0001c0001t0078g0028	1	96	0.0104	283	c.-16 others(304): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTA CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	AAGAAGGG others(276): Show AAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAG GGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0072 a0001c0001t0073g0072	1	96	0.0104	283	c.-16 others(304): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTA CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(276): Show TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0265	1	394	0.0025	283	c.41- others(298): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAT AAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
INS_chr11_2154779_2166209	2161819	G G	GACCCCTG others(276): Show GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTATCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	283	c.-67 others(292): Show c.-670_-669insGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTG TGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		611		chr11	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(276): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATGATATATGAAATATATATA TGATATATGAAATATATATATGATATATGAAATATATATATGATATATGA AATATATATATGATATATATATGAAATATATATATGATATATATATGAAA TATATATATGATATATATATGAAATATATATATGATATATATATGAAATA TATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19091.hp1 HG02080.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0248 a0002c0002t0006g0210 a0001c0001t0001g0248 a0002c0002t0006g0210	2	344	0.0058	283	c.25- others(298): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATGATATATG AAATATATATATGATATATGAAATATATATATGATATATGAAATATATAT ATGATATATGAAATATATATATGATATATATATGAAATATATATATGATA TATATATGAAATATATATATGATATATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATATGAAATATATATATGATATATA TAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP2_chr5_147580438_147787728	147764930	G G	GAAAGAAA others(276): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0198 a0001c0002t0083g0198	1	250	0.0040	283	c.-14 others(304): Show c.-149+17525_-149+17526insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758774	T T	TATATATA others(276): Show TATATATATATCTCCTCTAGGAGAGATATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAG AGGAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19063.hp2 NA19000.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0197 a0001c0002t0001g0169 a0001c0002t0001g0197	2	232	0.0086	283	c.-67 others(302): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA TATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758774	T T	TATATATA others(276): Show TATATATATATCTCCTCTAGGAGATATATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAG AGGAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	232	0.0043	283	c.-67 others(302): Show c.-67-48559_-67-48558insCTCCTCTAGGAGATATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA TATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(276): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0180 a0001c0003t0037g0180	1	375	0.0027	283	c.317 others(300): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGGGGG GGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(276): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGC AGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0008 a0001c0001t0063g0008	1	160	0.0063	283	c.135 others(302): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCC AGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCC GGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(276): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19086.hp2 NA18971.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0350 a0001c0001t0009g0363 a0001c0001t0009g0350 a0001c0001t0009g0363	2	400	0.0050	283	c.997 others(300): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAACT CTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LMF1_chr16_848634_975984	859199	G G	GCAGTGGT others(276): Show GCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGA TGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCAGTGTTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0290 a0001c0006t0001g0290	1	294	0.0034	283	c.153 others(302): Show c.1530-4494_1530-4493insGCACACCCGTCCCCTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCCTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACAACACTGCACACCCGTCCCGTGACATCAGTGCACACCCGTC CCGAGACATCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGTGAC ACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCGG others(276): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCTGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	414	0.0024	283	c.171 others(300): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCAGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LUC7L_chr16_183990_234449	186510	G G	GGAGGAAC others(276): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	350	0.0029	283	c.26 others(294): Show c.2687_*2688insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2479		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248742362	G G	GTTATGCT others(276): Show GTTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGG GGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCG GGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTGGGGGAGATTATGCTC TGGTGGGGATGTTGGCAGCCGGGGGAGATTATGCTCTGGTGGGGATGTTG GCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATT ACGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00673.hp2 others(22): Show HG00099.hp2 HG00609.hp2 HG00673.hp2 HG01081.hp1 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02056.hp2 HG02738.hp2 HG03490.hp2 HG03688.hp2 HG06807.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18983.hp2 NA18985.hp2 NA19000.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0027 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0002g0063	25	374	0.0668	283	c.476 others(300): Show c.476-2514_476-2513insTCTCCCCCGGCTGCCAACATCCCCACCA GAGCGTAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCCCC GGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGGCTGCCAACATCC CCACCAGAGCATAATCTCCCCCACTGCCAACATCCCCACCAGAGCATAAT CTCCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAG CATAA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579179	A A	ACCACCAC others(276): Show ACCACCACCATCACCATCACCAGCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCACCAT CACCACCACCACCACCATCACCATCACCAGCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	362	0.0028	283	c.391 others(298): Show c.391+681_391+682insCCACCACCATCACCATCACCAGCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCATCACCATCACCAGC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CCT	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18			chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(276): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGAGAGGGAGGAGAGAGG GGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGGAGATGGGGG AGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGAG AGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	163	0.0061	283	c.525 others(300): Show c.525+8507_525+8508insCTCTCCCCCTCTCCCCCCTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCTCC CCCTCTCCCCCATCTCCCCCCTCTCCCCCATCTCCCCCCTCTCTCCCCCT CTCCCCCCTCTCTCCTCCCTCTCCCCCCTCTCCCTCCCCTCTCCCCTCTC TCTCCCCCATCCCTCCCTCCCTCTCTCTCTCTCTCCCCACCCCTCCCTCC CTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MGAT4C_chr12_85950667_86261391	86110268	C C	CTACATAT others(276): Show CTACATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATA TATATATATAGTCTATATATATATAGACTATATATATATAGTCTATATAT ATATAGACTATATATATATATAGACTATATAGTCTATATATATATAGTCT ATATATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATA TATATATAGTCTATATATATAGTCTATATATATATAGTCTATATATATAT AGTCTATATATATATAGTCTATATATATAGTCTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0047 a0001c0001t0073g0047	1	186	0.0054	283	c.-56 others(302): Show c.-56-60546_-56-60545insTAGACTATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATAGACTATATATATATAGACTATATATATATAGACTATAT ATATATATAGACTATATATATATAGACTATATAGTCTATATATATATATA GTCTATATATATATAGACTATATATATATAGTCTATATATATATAGACTA TATATATATATAGACTATATATATAGACTATATATATATAGACTATATAT ATATGTA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MICALL2_chr7_1429359_1464470	1446453	G G	GGGGGAGG others(276): Show GGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGA GTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAG GAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGAGG AGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAG AGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGG GAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0028 a0028	a0028c0092 a0028c0092	a0028c0092t0001 a0028c0092t0001	a0028c0092t0001g0039 a0028c0092t0001g0039	1	280	0.0036	283	c.641 others(298): Show c.641+259_641+260insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTC TTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCC TTCTCCTCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTCT CTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCTCC TCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCCTC CCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MLPH_chr2_237482251_237560322	237544145	T T	TGGGGGGA others(276): Show TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACGGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCA CAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAG GGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	283	c.153 others(302): Show c.1539+1490_1539+1491insGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGA CAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGG GGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAG GGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGCACGGTGGTGAGT GGAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL28_chr16_361969_375538	370259	G G	GCCGGCAC others(276): Show GCCGGCACTCACCCCCTACCCCGGCCCCCGACTCTCACCCGCTACCCCCC CGGCTCCCCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	394	0.0025	283	c.-7- others(294): Show c.-7-35_-7-34insGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGGGGAGCCG GGGGGGTAGCGGGTGAGAGTCGGGGGCCGGGGTAGGGGGTGAGTGCCGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSLN_chr16_755734_773862	767880	G G	GGGGGGGG others(276): Show GGGGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGTG TGGGGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGCGCGTGGGGGGGCG TGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGGT GTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGGAGCATGGGGGGGCGTGGAGGAGG GGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0230 a0002c0003t0004g0230	1	388	0.0026	283	c.159 others(300): Show c.1596+411_1596+412insGGGGGGCGCGTGGAGGGGGGCGCGTGGG GGGGGCGCATGGGGGGGGTGTGGGGGGGGGCGCGTGGAGGGGGCGCGTGG AGGGGGCGCGTGGGGGGGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGT GGGGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTG GAGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGC ATGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGG GCGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(276): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGCGGGAGGA GGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAGGGAGGAGG AGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGG AGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG03453.hp1 others(4): Show HG02109.hp1 HG02970.hp1 HG03453.hp1 HG03486.hp2 HG03688.hp1 HG03831.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0009 a0001c0001t0102 a0001c0024t0009 a0001c0001t0009 a0001c0001t0102 a0001c0024t0009	a0001c0001t0009g0008 a0001c0001t0009g0065 a0001c0001t0009g0073 others(4): Show a0001c0001t0009g0008 a0001c0001t0009g0065 a0001c0001t0009g0073 a0001c0001t0009g0224 a0001c0001t0009g0258 a0001c0001t0102g0010 a0001c0024t0009g0013	7	348	0.0201	283	c.887 others(300): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCTCCCGCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCT TCCCTCCTTCCCTCCCTCCCTCTTCCCTCCCTCCTCCCTCCCTCTTCCCT CCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCGG others(276): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCTGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	384	0.0026	283	c.-41 others(294): Show c.-4100_-4099insCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCTGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NDC80_chr18_2566557_2621635	2614564	G G	GAAGGAAG others(276): Show GAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	402	0.0025	283	c.179 others(302): Show c.1792-1873_1792-1872insAAGGAAGGAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16			chr18	TogoVar
NDST4_chr4_114822763_115118620	114976961	T T	TGGGAGGC others(276): Show TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GTGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	190	0.0053	283	c.106 others(300): Show c.1066+225_1066+226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCACCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCC	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	3/13			chr4	TogoVar
NDUFC1_chr4_139284931_139307477	139289144	A A	AAAAGGCC others(276): Show AAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTG CACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	376	0.0027	283	c.96 others(292): Show c.968_*969insGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC TCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		786		chr4	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(276): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 HG02451.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0197 a0001c0001t0001g0207	2	346	0.0058	283	c.373 others(300): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTCTAGTT CTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241812487	C C	CGAGGACA others(276): Show CGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGAC ACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGACACGGAGG CTCTGTGGAACCCAGGGCCTGGCCACACTGAGCACGGCTGGTCCCCCAAG ACAGAGGGACCTCCTGAGGACACAGAGTCTCTGTGGAACCCAGGGCCTGG CCACACTAACTGGGGCTGGCCTCCGAGACAGGGGAGGTCCTGAGGACACG GAGGCTCTGTGGAACCCAGGGAACTGGTCACACT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	319	0.0031	283	c.-3- others(298): Show c.-3-1922_-3-1921insAACTGGTCACACTGAGGACACGGAGGCTCT GTGGAACCCAGGGCCTGGCCACACTGAGCACGGCTGGTCCCCCAAGACAG AGGGACCTCCTGAGGACACAGAGTCTCTGTGGAACCCAGGGCCTGGCCAC ACTAACTGGGGCTGGCCTCCGAGACAGGGGAGGTCCTGAGGACACGGAGG CTCTGTGGAACCCAGGGAACTGGTCACACTGAGGACACGGAGGCTCTGTG GAACCCAGGGAACTGGTCACACTGAGGACACGGAGGCTCTGTGGAACCCA GGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(276): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAG AGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGG AAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGG AGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGA AAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01074.hp2 others(28): Show HG00323.hp2 HG00738.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02074.hp1 HG02080.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG03471.hp1 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18945.hp2 NA18973.hp1 NA18977.hp1 NA18988.hp1 NA19003.hp1 NA19063.hp1 NA19068.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0001t0033 a0001c0001t0059 a0001c0001t0061 a0001c0001t0094 a0001c0001t0097 a0001c0001t0105 a0001c0005t0068	a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0129 others(28): Show a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0174 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0289 a0001c0001t0005g0146 a0001c0001t0005g0176 a0001c0001t0007g0165 a0001c0001t0010g0031 a0001c0001t0010g0047 a0001c0001t0010g0086 a0001c0001t0018g0114 a0001c0001t0018g0190 a0001c0001t0018g0269 a0001c0001t0024g0092 a0001c0001t0033g0272 a0001c0001t0033g0303 a0001c0001t0059g0020 a0001c0001t0061g0090 a0001c0001t0094g0201 a0001c0001t0097g0278 a0001c0001t0105g0117 a0001c0005t0068g0274	31	304	0.1020	283	c.563 others(302): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCCCTCTCTC CCTCCCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTT TCCTCCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTT CTCCTTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCT CCCTCCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(276): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGG TGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGG GAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGA AGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGG AAGAAAGGGAGGGAGAGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01167.hp2 others(25): Show HG00558.hp2 HG00609.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1 HG01943.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 NA18747.hp1 NA18942.hp2 NA18965.hp1 NA18965.hp2 NA18977.hp2 NA18981.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0054 a0001c0001t0065 a0001c0001t0069 a0001c0001t0074 a0001c0001t0096 a0001c0001t0102 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0002t0008	a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0148 others(25): Show a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0181 a0001c0001t0001g0228 a0001c0001t0001g0251 a0001c0001t0002g0254 a0001c0001t0002g0273 a0001c0001t0005g0257 a0001c0001t0006g0054 a0001c0001t0007g0119 a0001c0001t0007g0230 a0001c0001t0008g0210 a0001c0001t0014g0122 a0001c0001t0025g0089 a0001c0001t0031g0281 a0001c0001t0031g0285 a0001c0001t0039g0050 a0001c0001t0054g0051 a0001c0001t0065g0172 a0001c0001t0069g0271 a0001c0001t0074g0255 a0001c0001t0096g0149 a0001c0001t0102g0135 a0001c0001t0113g0284 a0001c0001t0114g0279 a0001c0001t0116g0206 a0001c0002t0008g0245	28	304	0.0921	283	c.563 others(302): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCTCTCCCTC CCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCT CCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCC TTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCT CCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(276): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGAAAGG AGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGAAATG AAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGGAGAG AGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGGAAGG AAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00639.hp1 others(17): Show HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG02056.hp1 HG02922.hp1 HG03195.hp1 HG03195.hp2 HG03654.hp2 NA18942.hp1 NA18945.hp1 NA18971.hp2 NA18979.hp2 NA18985.hp2 NA18994.hp1 NA19085.hp1 NA19086.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0025 a0001c0001t0051 a0001c0001t0060 a0001c0001t0067 a0001c0001t0088 a0004c0006t0076	a0001c0001t0001g0283 a0001c0001t0004g0106 a0001c0001t0004g0107 others(17): Show a0001c0001t0001g0283 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0118 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0299 a0001c0001t0007g0177 a0001c0001t0007g0193 a0001c0001t0011g0221 a0001c0001t0012g0112 a0001c0001t0012g0240 a0001c0001t0012g0242 a0001c0001t0022g0083 a0001c0001t0025g0062 a0001c0001t0051g0057 a0001c0001t0060g0084 a0001c0001t0067g0219 a0001c0001t0088g0211 a0004c0006t0076g0184	20	304	0.0658	283	c.563 others(302): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(276): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAAGGGAGGGA AAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGGAGGA AATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGAAGGAAGGG AGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGAAAGCAGGG AAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19000.hp1 HG01167.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0280 a0001c0001t0015g0301 a0001c0001t0002g0280 a0001c0001t0015g0301	2	304	0.0066	283	c.563 others(302): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCTCCCTCCCTCCCTCCTT CCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NOL4_chr18_33846100_34229913	33953227	T T	TTTGTGTA others(276): Show TTTGTGTAGGATATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG02280.hp1 others(10): Show HG00323.hp1 HG00735.hp1 HG02280.hp1 HG02970.hp1 HG03139.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 NA18906.hp1 NA18954.hp1 NA19043.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0041 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0002g0067 a0001c0001t0002g0162	13	168	0.0774	283	c.142 others(302): Show c.1428+4098_1428+4099insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG AGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATCC TACACAA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	8/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	33953227	T T	TTTGTGTA others(276): Show TTTGTGTAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	168	0.0060	283	c.142 others(302): Show c.1428+4098_1428+4099insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG AGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATCC TACACAA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	8/10			chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(276): Show GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGCGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGT GGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGG GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0054 a0005c0054	a0005c0054t0023 a0005c0054t0023	a0005c0054t0023g0134 a0005c0054t0023g0134	1	324	0.0031	283	c.141 others(300): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCAC TGTCCCTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCAT CCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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