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
FBXO34_chr14_55266421_55358611	55332023	T T	TACACCAC others(275): Show TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0001 a0009c0014t0004g0001	1	334	0.0030	282	c.-10 others(301): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACAC	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(275): Show CAGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	370	0.0027	282	c.189 others(301): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT AGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FMN2_chr1_240086883_240480187	240184928	A A	ACTTTCTC others(275): Show ACTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTAT AACTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0043 a0043	a0043c0027 a0043c0027	a0043c0027t0001 a0043c0027t0001	a0043c0027t0001g0015 a0043c0027t0001g0015	1	174	0.0058	282	c.193 others(301): Show c.1931-3204_1931-3203insGCCCCTTCTCTTTCTCCCTCCTATAA CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMR1NB_chrX_147976337_148031665	147992485	C C	CCGGACGG others(275): Show CCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGG CGGGGGGCTGACCCCCCCCCACCTCCCCTCCCGGACGGCACGGCTGGCCG GGCGGGGGTGCTGACCCCCCACCTCCTCCCTCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	275	0.0036	282	c.278 others(301): Show c.278-10706_278-10705insGGCTGGCCAGGCGGGGGGCCGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCTCCCCTCCCGGACG GCACGGCTGGCCGGGCGGGGGTGCTGACCCCCCACCTCCTCCCTCGCGGA CGGGGC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXQ1_chr6_1307098_1319758	1317227	C C	CTCCCCCC others(275): Show CTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCAC CCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCCGCCCACCCCCCT CCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCC TCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCT CCAGCCTACCCCTCCCCCCGCCCACTTCTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0000 a0003c0002t0003g0000	1	406	0.0025	282	c.33 others(293): Show c.3311_*3312insTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACC CCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCCC CCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCC CTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCG	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2470		chr6	TogoVar
GABRG3_chr15_26966181_27546984	27388163	G G	GAGGAAGG others(275): Show GAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGG AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG GAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGG AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG GAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG GAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	92	0.0109	282	c.574 others(301): Show c.574+59276_574+59277insGGAAGGAAGGAAAGGAGGGAGGGAGG GTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGG GTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGG GTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGG GTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGG GTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGG GAGGAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAS6_chr13_113815549_113869076	113841817	C C	CTCCATAT others(275): Show CTCCATATGCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACAC CCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCATATGCCCAGTTTC TTCCATACGCCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGC CCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACACCCCCCAGT TTCCTCCATATGCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATAT GCCTCAATTTCCTCCATACGCCCCCCAGTTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00621.hp1 others(21): Show HG00423.hp1 HG00609.hp2 HG00621.hp1 HG01071.hp1 HG01099.hp1 HG01361.hp2 HG01891.hp1 HG01978.hp1 HG02135.hp1 HG02165.hp1 HG02809.hp1 HG03017.hp1 HG03225.hp1 HG03225.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp2 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0017	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0026 a0002c0006 a0003c0015 a0004c0010 a0013c0028 a0017c0027	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0026t0001 a0002c0006t0001 a0003c0015t0001 a0004c0010t0001 a0013c0028t0001 a0017c0027t0001	a0001c0001t0001g0013 a0001c0002t0001g0009 a0001c0002t0001g0032 others(21): Show a0001c0001t0001g0013 a0001c0002t0001g0009 a0001c0002t0001g0032 a0001c0002t0001g0120 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0123 a0001c0026t0001g0024 a0002c0006t0001g0011 a0003c0015t0001g0028 a0004c0010t0001g0039 a0013c0028t0001g0021 a0017c0027t0001g0046	24	143	0.1678	282	c.344 others(299): Show c.344-1968_344-1967insAGAAACTGGGGGGCGTATGGAGGAAATT GAGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGGGCATATGG AGGAAACTGGGGGGTGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACT GGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCGTA TGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAACT GTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATA TGGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(275): Show GGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAG GAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	188	0.0053	282	c.229 others(301): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCT CCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPIHBP1_chr8_143208218_143222170	143218052	A A	ACCCCCAA others(275): Show ACCCCCAACACCATCCCCAACACCACCCCCCACACCACCCCCAACACCAC CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCCAACACCATCC CCAACACCACCCCCAACACCACCCAACACCACCCCCAACACCACCCAACA CCACCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCC AACACCACCCCCAACACCACCCCCAACACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	282	c.25 others(293): Show c.2534_*2535insCCCCCAACACCATCCCCAACACCACCCCCCACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCCAACACCATCCCCAACACCACCCCCAACACCACCCAACACCACCCC CAACACCACCCAACACCACCCCACACCACCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		883		chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322886	T T	TATATATA others(275): Show TATATATACGGAATATATATATACGGAATATATATACGGAATGTATATAT ACGGAATATATATACGGAATGTATATATACGGAATATATATACGGAATGT ATATATACGGAATATATATACGGAATGTATATATATGGAATATATATACG GAATGTATATATATGGAATATATATACGGAATGTATATATATGGAATATA TATACGGAATGTATATATATGGAATATATATATATGGAATATATATATGC AATATATATATATGGAATATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0104 a0001c0001t0010g0104	1	323	0.0031	282	c.-21 others(293): Show c.-2170_-2169insATATATACGGAATATATATATACGGAATATATAT ACGGAATGTATATATACGGAATATATATACGGAATGTATATATACGGAAT ATATATACGGAATGTATATATACGGAATATATATACGGAATGTATATATA TGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTA TATATATGGAATATATATACGGAATGTATATATATGGAATATATATATAT GGAATATATATATGCAATATATATATATGGAATATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2083		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(275): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATATATGGAA TATATATACGGAATATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAACATATATACGGAATAT ATACATATGGAACATATATATACGGAATATATACATATGGAACATATATA TACGGAATATATACATATGGAACATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	323	0.0031	282	c.-21 others(293): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATATATGGAATATATATACGGAATATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAC ATATATACGGAATATATACATATGGAACATATATATACGGAATATATACA TATGGAACATATATATACGGAATATATACATATGGAACATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(275): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATATATGGAA TATATATACGGAATATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATACATATGGAATATATATACGGAATATATACATATGGAACATATATATA CGGAATATATACATATGGAACATATATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	323	0.0031	282	c.-21 others(293): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATATATGGAATATATATACGGAATATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATACATATGGAATATATATACGGAATATATACATA TGGAACATATATATACGGAATATATACATATGGAACATATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IL3RA_chrX_1331785_1387689	1361016	C C	CCTCTGTC others(275): Show CCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	115	0.0087	282	c.759 others(299): Show c.759+2203_759+2204insGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC CTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361071	C C	CTCTCTCT others(275): Show CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCC CTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	115	0.0087	282	c.759 others(299): Show c.759+2203_759+2204insGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTC CCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTGTCTCTCTCCCTTCCC CTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INS_chr11_2154779_2166209	2161846	A A	ACACCCCT others(275): Show ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCC AGACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCGGGACCCCTGTCCCCACACCCCTGTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	282	c.-69 others(291): Show c.-697_-696insGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTCTGGG GACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		638		chr11	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(275): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCC TCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0223 a0001c0004t0016g0223	1	282	0.0036	282	c.258 others(299): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAAC CGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATA others(275): Show TATATATATTAGATTATATATATTATACATGTATAATATATATATTAGAT TATATATATTATACATGTATAATATATATATTAGATTATATATATTATAC ATGTATAATATATATATTAGATTATATATATTATACATGTATAATATATA TTAGATTATATATATTATACATGTATAATATATATATTAGATTATATATA TTATACATGTATAATATATATTAGATTATATATATTATACATGTATAATA TATATATTAGATTATATATATTATACATGTATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	402	0.0025	282	c.292 others(301): Show c.2920-1439_2920-1438insTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATATATTAGATTATATATATTATACA TGTATAATATATATATTAGATTATATATATTATACATGTATAATATATAT TAGATTATATATATTATACATGTATAATATATATATTAGATTATATATAT TATACATGTATAATATATATTAGATTATATATATTATACATGTATAATAT ATATATTAGATTATATATATTATACATGTATAATATATATATTAGATTAT ATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(275): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATAATTCTATATATATAATATATATTATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02886.hp2 others(1): Show HG02451.hp1 HG02630.hp1 HG02886.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0002t0005	a0001c0001t0003g0080 a0001c0001t0005g0027 a0001c0001t0015g0023 others(1): Show a0001c0001t0003g0080 a0001c0001t0005g0027 a0001c0001t0015g0023 a0001c0002t0005g0062	4	80	0.0500	282	c.62- others(301): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATAGAATTATATATA TAATATATATTATATATATAGAATTATATATAATATATATTATATATATA GAATTATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATATAATATATATTATATATATAGAATTA TATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(275): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	232	0.0043	282	c.-67 others(301): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(275): Show CGGGGGGGGGCGGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGC TGCGGGGGGGCGGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCG CTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0249 a0002c0002t0013g0249	1	375	0.0027	282	c.317 others(299): Show c.317+1409_317+1410insGGGGGGGCGGGGAACGGCGCTGCGGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL18_chr3_47277944_47351816	47316734	T T	TACATATA others(275): Show TACATATATACGTATGTGTGTATATATATACATATATACGTATGTGTGTA TATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATATA TACATATATACGTATATATGTATATGTGTGTATATACACATATATACGTA TATATGTATATGTGTGTATATACACATATATACGTATATATGTATATGTG TGTATATACACATATATACGTATATATGTATATGTATATATGTGTATATA TACACATATATACGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	338	0.0030	282	c.130 others(299): Show c.130-2905_130-2904insGTGTGTATATATATACATATATACGTAT GTGTGTATATGTGTGTATATATACATATATACGTATATATGTATATGTGT GTATATATACATATATACGTATATATGTATATGTGTGTATATACACATAT ATACGTATATATGTATATGTGTGTATATACACATATATACGTATATATGT ATATGTGTGTATATACACATATATACGTATATATGTATATGTATATATGT GTATATATACACATATATACGTATATATGTGTATATATACACATATATAC GTAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL18_chr3_47277944_47351816	47316734	T T	TACATATA others(275): Show TACATATATACGTATGTGTGTGTATATATACATATATACGTATATATGTA TATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATATA TACATATATACGTATATATGTATATGTGTGTATATATACATATATACGTA TATATGTATATGTGTGTATATATACATATATACGTATATATGTATATGTG TGTATATACACATATATACGTATATATGTATATGTATATATGTGTATATA TACACATATATACGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01167.hp1 HG01261.hp1 others(2): Show HG00673.hp1 HG01167.hp1 HG01261.hp1 HG02257.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0275 a0001c0001t0001g0297 others(2): Show a0001c0001t0001g0225 a0001c0001t0001g0275 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0307	5	338	0.0148	282	c.130 others(299): Show c.130-2905_130-2904insGTGTGTGTATATATACATATATACGTAT ATATGTATATGTGTGTATATATACATATATACGTATATATGTATATGTGT GTATATATACATATATACGTATATATGTATATGTGTGTATATATACATAT ATACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGT ATATGTGTGTATATACACATATATACGTATATATGTATATGTATATATGT GTATATATACACATATATACGTATATATGTGTATATATACACATATATAC GTAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATACGTAT others(275): Show ATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGT GTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGT GTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0001 a0001c0001t0089g0001	1	400	0.0025	282	c.37 others(291): Show c.370_*371insTACGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATA TGTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG TATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATG TATACATATATGTGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750104	A A	ATACGTAT others(275): Show ATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGT GTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGT GTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0010 a0001c0001t0093g0010	1	400	0.0025	282	c.37 others(291): Show c.374_*375insCGTATGTATGTATACATATATGTGTATATATACGTA TGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTA TATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTA TACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	375	INFO_REALIGN_3_PRIME	chr2	TogoVar
KREMEN1_chr22_29068035_29151820	29120441	G G	GAAGGAAA others(275): Show GAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp2 HG03239.hp1 others(4): Show HG02015.hp2 HG02523.hp2 HG03239.hp1 NA18954.hp2 NA18994.hp2 NA18999.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0027 a0001c0002t0059 a0001c0002t0001 a0001c0002t0027 a0001c0002t0059	a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 others(4): Show a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0027g0036 a0001c0002t0027g0074 a0001c0002t0059g0092	7	368	0.0190	282	c.353 others(297): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT AA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(275): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATCTATCCATATATATATCCATATATATCTATCCATA TATATATCCATATATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	284	0.0035	282	c.126 others(299): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATGGATATATATATATGGATATATATATGGATATATATATAT GGATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATGGATATATATATGGATATATATATGGATATATATATATGGATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(275): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0014 a0003c0014t0001g0014	1	294	0.0034	282	c.153 others(301): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTGCAC ACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGTGAC ACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(275): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	294	0.0034	282	c.153 others(301): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTGCAC ACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGTGAC ACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(275): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCC TTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	414	0.0024	282	c.171 others(299): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC400499_chr16_11367015_11532247	11493824	A A	AGGGGCAG others(275): Show AGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTG GCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGG CGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTG GCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGG CGGGGCAGTGGCGTGGGGGGCGGGGGCAGTGGCGTGGGGGGCGGGGCCAG TGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0121 a0121	a0121c0110 a0121c0110	a0121c0110t0005 a0121c0110t0005	a0121c0110t0005g0014 a0121c0110t0005g0014	1	310	0.0032	282	c.143 others(297): Show c.1432-29_1432-28insGCCCCCCACGCCACTGCCCCGCCCCCCACG CCACTGGCCCCGCCCCCCACGCCACTGCCCCCGCCCCCCACGCCACTGCC CCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCA CGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCC CCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCA CGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCC CC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(275): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACACCCG GGCCACTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0039 a0001c0026t0039	a0001c0026t0039g0021 a0001c0026t0039g0021	1	296	0.0034	282	c.368 others(299): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG TGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(275): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0025 a0005c0013t0025	a0005c0013t0025g0273 a0005c0013t0025g0273	1	296	0.0034	282	c.368 others(299): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(275): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	296	0.0034	282	c.368 others(299): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(275): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01361.hp2 others(6): Show HG00738.hp1 HG01071.hp2 HG01361.hp2 HG01975.hp2 HG02004.hp1 HG02109.hp2 HG03492.hp2 NA18951.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0017 a0002c0002t0017 others(3): Show a0001c0001t0001 a0001c0001t0017 a0002c0002t0017 a0002c0002t0045 a0002c0003t0003 a0003c0005t0002	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 others(6): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0017g0187 a0002c0002t0017g0090 a0002c0002t0017g0103 a0002c0002t0045g0028 a0002c0003t0003g0110 a0003c0005t0002g0038	9	296	0.0304	282	c.368 others(299): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(275): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02683.hp2 others(5): Show HG00408.hp2 HG02027.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 a0002c0002t0043 a0002c0002t0054	a0001c0001t0001g0159 a0001c0001t0001g0227 a0001c0001t0001g0231 others(5): Show a0001c0001t0001g0159 a0001c0001t0001g0227 a0001c0001t0001g0231 a0002c0002t0001g0033 a0002c0002t0001g0098 a0002c0002t0008g0127 a0002c0002t0043g0109 a0002c0002t0054g0102	8	296	0.0270	282	c.368 others(299): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(275): Show CCGCTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0018 a0002c0009t0018	a0002c0009t0018g0135 a0002c0009t0018g0135	1	296	0.0034	282	c.368 others(299): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAAGTA AGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185454242	G G	GATATATA others(275): Show GATATATATATGATACATATATATGAGATATATATATGATACATATATAT GAGATATATATATGATACATATATATGAGATATATATATGATACATATAT GAGATATATATATGATACATATATATGAGATATATATATGATACATATAT ATGAGATATATATATGATACATATATATGAGATATATATATGATACATAT ATATGAGATATATATATGATACATATATATGAGATATATATATGATACAT ATATGAGATATATATGATACATATATATGAGAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0105 a0001c0001t0016g0105	1	278	0.0036	282	c.127 others(301): Show c.1278+2855_1278+2856insATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATATATATGATACATATATATGAGATATAT ATATGATACATATATGAGATATATATATGATACATATATATGAGATATAT ATATGATACATATATATGAGATATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATATGATACATATATATGAGAT ATATATATGATACATATATGAGATATATATGATACATATATATGAGATAT ATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K14_chr17_45258119_45322020	45306333	T T	TAAAAATT others(275): Show TAAAAATTGGGACCGACAGGAGATCGAGACCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	336	0.0030	282	c.-21 others(301): Show c.-21+10626_-21+10627insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGTCGGTCCCA ATTTTT	MAP3K14	ENSG00000006062.18	transcript	ENST00000344686.8	protein_coding	1/15			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	164112985	T T	TAAACAAT others(275): Show TAAACAATTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	102	0.0098	282	c.-32 others(301): Show c.-322-1324_-322-1323insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCAA TTGTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MASP2_chr1_11021523_11052239	11041736	T T	TAGAAGAA others(275): Show TAGAAGAATGGGTGGATGGATAGATAGATGGCTGGAAGGATGGATTAATG GGTGGATTGATGGATGGGTAGGATTGGTAGGTAGAAGGATGGGTGGGTGG ATAGATGGATAGCTGGAAGGAATGGATGGATGGATGCATGGATACATGGA TGGATGGATGGATGGATAGATGGATAGATAGATAGATAGATAGATAGATA GATAGATAGACAGACAGATATGTAGAAGGGTGGGTGGATGGGTAGATAAA TAGAAGGATGGGTGGATAGAGGATGAGTGGGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG01496.hp1 others(5): Show HG01123.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02300.hp2 NA19055.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 others(5): Show a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076	8	346	0.0231	282	c.889 others(299): Show c.889+1138_889+1139insCACCCACTCATCCTCTATCCACCCATCC TTCTATTTATCTACCCATCCACCCACCCTTCTACATATCTGTCTGTCTAT CTATCTATCTATCTATCTATCTATCTATCTATCCATCTATCCATCCATCC ATCCATCCATGTATCCATGCATCCATCCATCCATTCCTTCCAGCTATCCA TCTATCCACCCACCCATCCTTCTACCTACCAATCCTACCCATCCATCAAT CCACCCATTAATCCATCCTTCCAGCCATCTATCTATCCATCCACCCATTC TTCT	MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	6/10			chr1	TogoVar
MBNL3_chrX_132364320_132494038	132396715	C C	CATATATA others(275): Show CATATATATATATTCATATATAGATTCATATATATATTCATATATAGATT CATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	191	0.0052	282	c.343 others(299): Show c.343-4382_343-4381insATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATCTATATATGAATATATATGAATCTATATATGAATAT ATATGAATCTATATATGAATATATATATGAATCTATATATGAATATATAT ATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCOLN2_chr1_84920583_85002113	84987489	C C	CATATATG others(275): Show CATATATGTATATATAGATATATATACATATATACATATATACATATATG TATATATAGATATATATACATATATACATATATGTATATACCTATATACA TATATAGATATATACATATGTATATATGTATATAGATATACATACATAGA TATATACATATATGTATATATATACATATATGTATATCTATATACATATA TGTATATATATACATATATGTATATATATATACATATATGTATATATCGA TATATACATATATGTATATATCTATATATACAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	350	0.0029	282	c.77+ others(297): Show c.77+9306_77+9307insATGTATATATAGATATATACATATATGTAT ATATCGATATATACATATATGTATATATATATACATATATGTATATATAT ACATATATGTATATAGATATACATATATGTATATATATACATATATGTAT ATATCTATGTATGTATATCTATATACATATATACATATGTATATATCTAT ATATGTATATAGGTATATACATATATGTATATATGTATATATATCTATAT ATACATATATGTATATATGTATATATGTATATATATCTATATATACATAT AT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCTP2_chr15_94226561_94488952	94332683	A A	AGAAAATT others(275): Show AGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTAGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATATTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0151 a0001c0001t0038g0151	1	276	0.0036	282	c.638 others(299): Show c.638-6597_638-6596insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGAAAAT TTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94332683	A A	AGAAATTT others(275): Show AGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCAGATTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATATTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG02647.hp1 HG01496.hp2 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0001 a0001c0002t0019 a0001c0001t0018 a0001c0002t0001 a0001c0002t0019	a0001c0001t0018g0111 a0001c0002t0001g0039 a0001c0002t0019g0036 a0001c0001t0018g0111 a0001c0002t0001g0039 a0001c0002t0019g0036	3	276	0.0109	282	c.638 others(299): Show c.638-6603_638-6602insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGATTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GAAA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(275): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 NA19079.hp1 HG00280.hp1 HG01106.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0033 a0001c0001 a0002c0033	a0001c0001t0001 a0002c0033t0001 a0001c0001t0001 a0002c0033t0001	a0001c0001t0001g0041 a0001c0001t0001g0207 a0002c0033t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0207 a0002c0033t0001g0026	3	292	0.0103	282	c.377 others(299): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGT CTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MELTF_chr3_196996740_197034817	197000591	A A	ACCGTGTG others(275): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCC GTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGC CAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAA GCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCA CTGTGCTGAGTGTTTTGTGTCTTAGACTCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	420	0.0024	282	c.27 others(293): Show c.2780_*2781insCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCT TGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGG CACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCAC ACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACG GCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACGG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(275): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp1 HG03834.hp2 others(3): Show HG00558.hp1 HG02132.hp1 HG03834.hp2 NA18747.hp2 NA18962.hp1 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0002 a0002c0003t0001 a0003c0004t0002	a0002c0003t0001g0074 a0003c0004t0002g0037 a0003c0004t0002g0173 others(2): Show a0002c0003t0001g0074 a0003c0004t0002g0037 a0003c0004t0002g0173 a0003c0004t0002g0175 a0003c0004t0002g0177	6	410	0.0146	282	c.484 others(297): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATACATATATATACATATATATACATATATATACACATATATATA CATATATATACATATATATACACATATATATATACATATATATACATATA TATACATATATACACATATATATACATATATATACATATATATACATATA TATACATATATATATACATATATATATACATATATATATATACATATATA TA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(275): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTGTATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18994.hp2 NA18978.hp2 NA18994.hp2	a0003 a0017 a0003 a0017	a0003c0004 a0017c0019 a0003c0004 a0017c0019	a0003c0004t0002 a0017c0019t0002 a0003c0004t0002 a0017c0019t0002	a0003c0004t0002g0174 a0017c0019t0002g0179 a0003c0004t0002g0174 a0017c0019t0002g0179	2	410	0.0049	282	c.484 others(297): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATACATATATATACATATATATACATATATATACACATATATATA CATATATATACATATATATACACATATATATATACATATATACACATATA TATACATATATACACATATATATACATATATATACATATATATACATATA TATACATATATATATACATATATATATACATATATATATATACATATATA TA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206491	A A	ATATATAT others(275): Show ATATATATATATGTATATATATATGTATATATATATGTATATATATGTAT ATATATGTATATATATGTATATATATGTGTATATATGTATATATATGTAT ATATATGTATATATATATGTGTATATATATGTATATATATGTATATATAT GTGTATATATATGTATATATATGTATATATATGTATATATATGTATATAT ATGTATATATATGTATATATATATGTATATATATATGTATATATATGTAT ATATATATGTATATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18981.hp1 NA18992.hp1 others(4): Show NA18950.hp2 NA18981.hp1 NA18992.hp1 NA18997.hp2 NA19064.hp1 NA19075.hp2 NA19076.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0017 a0003c0004 a0008c0017	a0003c0004t0002 a0008c0017t0002 a0003c0004t0002 a0008c0017t0002	a0003c0004t0002g0018 a0003c0004t0002g0062 a0003c0004t0002g0151 others(2): Show a0003c0004t0002g0018 a0003c0004t0002g0062 a0003c0004t0002g0151 a0003c0004t0002g0188 a0008c0017t0002g0150	7	410	0.0171	282	c.484 others(297): Show c.484-672_484-671insCACATATATATACATATATATATACATATA TATATACATATATATACATATATATATACATATATATATACATATATATA CATATATATACATATATATACATATATATACATATATATACATATATATA CACATATATATACATATATATACATATATATACACATATATATATACATA TATATACATATATATACATATATACACATATATATACATATATATACATA TATATACATATATATACATATATATATACATATATATATACATATATATA TA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(275): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGGGGCACGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGGGGGCGTGTGGGGGGGGGCGCGTGGGGGTGTGTGG GGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0051 a0051	a0051c0069 a0051c0069	a0051c0069t0001 a0051c0069t0001	a0051c0069t0001g0093 a0051c0069t0001g0093	1	388	0.0026	282	c.159 others(299): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG AGGGGGCACGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGCGTGGAGGAGG GGCGCGTGGAGGGGGGCGTGTGGGGGGGGGCGCGTGGGGGTGTGTGGGGG GGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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