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
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(365): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAATATATAAATATATATAATATATAAATATATAATAT ATAAATATATATAATATATAAATATATAATATATAAATATATATAATATA TAAATATATAATATATAAATATATATAATATATAAATATATAAATATATA ACATATAAATATATATAATATATAAATATATATATAACATATAAATATAT ATAATATATAAATATATATATAACATATAAATATATATAATATATAAATA TATATATAACATATAAATATATATAATATATAAATATATATATAACATAT AAATATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	174	0.0058	372	c.199 others(387): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAATA TATAAATATATATAATATATAAATATATAATATATAAATATATATAATAT ATAAATATATAAATATATAACATATAAATATATATAATATATAAATATAT ATATAACATATAAATATATATAATATATAAATATATATATAACATATAAA TATATATAATATATAAATATATATATAACATATAAATATATATAATATAT AAATATATATATAACATATAAATATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HPCAL1_chr2_10297904_10432604	10399538	C C	CCACCACC others(365): Show CCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCATCATCACCACCAT CATCACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCGCCACTGCCG CCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATC ACCACCACAACCACCACCACCACCATCACCACCACTACCATCACCACCAC CATCACCACCACTACCATCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACC ACCATCACCGCCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02896.hp2 others(6): Show HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018	a0001c0001t0002g0289 a0001c0001t0005g0008 a0001c0001t0005g0120 others(6): Show a0001c0001t0002g0289 a0001c0001t0005g0008 a0001c0001t0005g0120 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0295 a0001c0001t0018g0291	9	314	0.0287	372	c.-25 others(389): Show c.-25+2623_-25+2624insCCACCACCATCACCACCACCATCACCAT CATCACCGCCACCACCACCACCATCACCACCACCATCACCATCACCACCA CCATCATCACCACCATCATCACCGCCGCCACCACCACCACCACCGCCGCC GCCGCCGCCACTGCCGCCACCACCACCACCATCACCATCATCACCGCCGC CACCACCACCACCATCACCACCACAACCACCACCACCACCATCACCACCA CTACCATCACCACCACCATCACCACCACTACCATCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCACCAC CATCACCATCATCACCACCATCACCGCCACCATCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152671	T T	TCTCCTTC others(365): Show TCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCATC ACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTAC CACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCA CCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19003.hp1 NA18945.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0266 a0001c0001t0001g0267	2	274	0.0073	372	c.804 others(389): Show c.804+4444_804+4445insGTGGTGGTGGTGGAGGTGATGGTGATGG TGATAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTA GTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGT GGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGG TGATGGTGATAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTG GTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGGTGAAGGAG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152683	T T	TCACCACT others(365): Show TCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCAC CACCACCACCATTATCTCCTTCACCACCACTACCCCCAGCACTACCACCA TCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACC ACCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCAT CACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTA CCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACC ACCACCACCACCATCTCCTTCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	274	0.0037	372	c.804 others(389): Show c.804+4432_804+4433insGTGAAGGAGATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGT GATGGTGATAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATAATGGTGGTGGTGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGG TGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322318	A A	ACATATAT others(365): Show ACATATATATGGAATATATATATGGAATACATATATGGAATATATATATA TGGAATATATATATGCAATATATATATATGGAATATATATATGGAATATA TATAGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT ATGTATATGGAATATATACATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	323	0.0031	372	c.-27 others(383): Show c.-2738_-2737insCATATATATGGAATATATATATGGAATACATATA TGGAATATATATATATGGAATATATATATGCAATATATATATATGGAATA TATATATGGAATATATATAGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATACATGGAATATATGTATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2651		chr21	TogoVar
IGLON5_chr19_51306644_51335891	51310779	G G	GCCTGGAC others(365): Show GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGCCTGGCCTCCTGGGTCTGAGGGAGGAGGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGAGCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	418	0.0024	372	c.-10 others(383): Show c.-1069_-1068insCCTGGACTCCTGGGTCTGAGGGAGGAGGGGGCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGCCTCCTGGGTCTGAGGG AGGAGGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC AGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGA GGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGA	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		864		chr19	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(365): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATATTATATGTAATATATAATATATAATATATAATATATAT TATATATTATATATATATTATATGTAATATATAATATATAATATATAATA TATAATATATAATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	366	0.0027	372	c.-36 others(383): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATATTATATGTAATATATAATATATA ATATATAATATATATTATATATTATATATATATTATATGTAATATATAAT ATATAATATATAATATATAATATATAATATATAATATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(365): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATATTATATGTAATATATAATATATAATATATAATATATAT TATATATTATATATATATTATATGTAATATATAATATATAATATATAATA TATAATATATAATATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0064 a0004c0004t0001g0064	1	348	0.0029	372	c.84 others(381): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATATTATATGTAATATATAATATATAAT ATATAATATATATTATATATTATATATATATTATATGTAATATATAATAT ATAATATATAATATATAATATATAATATATAATATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(365): Show AGATGATGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAG AGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGA TGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGAT GATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTG AACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGA TGATGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAAC CTTGCCAAAAGCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	440	0.0023	372	c.-13 others(391): Show c.-138-2151_-138-2150insTGATGATGAAGGAGAGTTCTGTAGCT ACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGAGTT CTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAT GATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAA AGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG AGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGA TGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGC AACCAGATGATGATGATGATGATGATGATGATGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(365): Show AGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATGAAG GAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGA TGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGAT GATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTA CTGAACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAG GAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGA TGATGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAAC CTTGCCAAAAGCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0178 a0001c0001t0006g0202 a0001c0001t0004g0178 a0001c0001t0006g0202	2	440	0.0046	372	c.-13 others(391): Show c.-138-2151_-138-2150insTGATGATGATGAAGGAGAGTTCTGTA GCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGA GTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGAT GATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCT GAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAG AGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGA TGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGC AACCAGATGATGATGATGATGATGATGATGATGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406228	C C	CGTCTTCC others(365): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0221 a0001c0001t0221	a0001c0001t0221g0175 a0001c0001t0221g0175	1	276	0.0036	372	c.60 others(381): Show c.605_*606insTAGATGTCACAGAGGTCCACTCAGTGACAAACACTG AAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTC AGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCAC TCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCC ACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACACACACTGAAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	605		chr2	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(365): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTA CCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCA CTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCA CCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCA CACCCCAAGGTCCAGGGCACCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01891.hp2 others(10): Show HG01167.hp1 HG01169.hp1 HG01891.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0054 a0001c0001 a0001c0011 a0001c0054	a0001c0001t0001 a0001c0011t0001 a0001c0054t0001 a0001c0001t0001 a0001c0011t0001 a0001c0054t0001	a0001c0001t0001g0006 a0001c0001t0001g0242 a0001c0001t0001g0254 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0242 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0011t0001g0013 a0001c0054t0001g0263	13	364	0.0357	372	c.418 others(389): Show c.418-4712_418-4711insAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCT TTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGC CCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATA CTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCTTT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(365): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GATGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTAGTGGCGATGGTGACAATGATGGTGATCATGGTGATGATCATG ATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGTGGT AGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01167.hp1 others(6): Show HG00280.hp1 HG00642.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp1 HG03492.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0004c0007	a0001c0001t0004 a0001c0001t0038 a0002c0004t0004 others(2): Show a0001c0001t0004 a0001c0001t0038 a0002c0004t0004 a0002c0008t0004 a0004c0007t0004	a0001c0001t0004g0127 a0001c0001t0038g0014 a0002c0004t0004g0038 others(6): Show a0001c0001t0004g0127 a0001c0001t0038g0014 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0141 a0002c0008t0004g0128 a0004c0007t0004g0092	9	158	0.0570	372	c.222 others(391): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGATGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTAGTGGCGATGGTGACAATGAT GGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGATAA TAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(365): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GATGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGGTGATCATGGTGACGATCATGAT GGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGGTGG TGGTGGTAGTGGCAATGGTGACGATGATGGTGATCATGGTGATGATCATG ATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGTGGT AGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	158	0.0063	372	c.222 others(391): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGATGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGG TGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCAATGGTGACGATGAT GGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGATAA TAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(365): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTAGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGGTGATCATGGTGACGATCATGAT GGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGGTGG TGGTGGTAGTGGCAATGGTGACGATGATGGTGATCATGGTGATGATCATG ATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGTGGT AGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03098.hp2 others(4): Show HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0013 a0001c0022 a0002c0010 others(2): Show a0001c0013 a0001c0022 a0002c0010 a0004c0030 a0009c0044	a0001c0013t0024 a0001c0022t0002 a0002c0010t0002 others(2): Show a0001c0013t0024 a0001c0022t0002 a0002c0010t0002 a0004c0030t0030 a0009c0044t0002	a0001c0013t0024g0078 a0001c0022t0002g0062 a0001c0022t0002g0080 others(4): Show a0001c0013t0024g0078 a0001c0022t0002g0062 a0001c0022t0002g0080 a0002c0010t0002g0157 a0002c0010t0002g0158 a0004c0030t0030g0084 a0009c0044t0002g0031	7	158	0.0443	372	c.222 others(391): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTAGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGG TGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCAATGGTGACGATGAT GGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGATAA TAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(365): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCAT GATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGG TGGTGGTAGTGGCGATGGTGACAATGATGGTGATCATGGTGATGATCATG ATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGTGGT AGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0013 a0001c0048t0013	a0001c0048t0013g0098 a0001c0048t0013g0098	1	158	0.0063	372	c.222 others(391): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTGGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGA TGGTGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGCAATGATCATGATGGTGGTGGTAGTGGCGATGGTGACAATGAT GGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGATAA TAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(365): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATG GTGGTGGTAGTGGTGATGGTGATGATGGTGATCATGGTGACGATCATGAT GGTGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGGTGG TGGTGGTAGTGGCAATGGTGACGATGATGGTGATCATGGTGATGATCATG ATGGTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGTGGT AGTGATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0040 a0004c0011t0040	a0004c0011t0040g0060 a0004c0011t0040g0060	1	158	0.0063	372	c.222 others(391): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTGGTGGTGATGGTGGTGGT GATGATGGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGG TGATCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGCAATGATCATGATGGTGGTGGTGGTAGTGGCAATGGTGACGATGAT GGTGATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGATAA TAGTGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514123	T T	TCTCCCTC others(365): Show TCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCTCTTCCTCCCTCCC TTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTTCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0007 a0018c0017t0007	a0018c0017t0007g0078 a0018c0017t0007g0078	1	254	0.0039	372	c.-84 others(389): Show c.-84+9372_-84+9373insCCTCCTTCTCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCTCTTCCTCCCTCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(365): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATGAATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	322	0.0031	372	c.283 others(391): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATTCATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(365): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTACACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	322	0.0031	372	c.283 others(391): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTGTACACATATATATGAATATATATGTG TACACATATATATGAATATATATGTGTACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(365): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	322	0.0031	372	c.283 others(391): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTG TACACATATATATGAATATATATGTGTACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(365): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02074.hp1 NA18944.hp1 others(1): Show HG00544.hp1 HG02074.hp1 NA18944.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0278 a0001c0002t0001g0239	4	322	0.0124	372	c.283 others(391): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTGTACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(365): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	322	0.0031	372	c.283 others(391): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TATATCCA others(365): Show TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	232	0.0043	372	c.-67 others(391): Show c.-67-49302_-67-49301insATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758041	T T	TATATATC others(365): Show TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	232	0.0043	372	c.-67 others(391): Show c.-67-49302_-67-49301insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATATCC AAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997488	G G	GTCGGGGG others(365): Show GTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCG GGGGAGTCTGCAGAGATGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0276 a0001c0001t0008g0276	1	375	0.0027	372	c.-19 others(383): Show c.-1981_-1980insTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTG CAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		182		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(365): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTC CCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(18): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp2 HG01074.hp1 HG01123.hp1 HG01346.hp2 HG01433.hp2 HG01934.hp2 HG01993.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02895.hp2 HG03688.hp2 HG04204.hp2 NA20905.hp2 NA21309.hp2	a0002 a0009 a0013 a0002 a0009 a0013	a0002c0002 a0009c0020 a0013c0016 a0002c0002 a0009c0020 a0013c0016	a0002c0002t0001 a0002c0002t0011 a0002c0002t0014 others(2): Show a0002c0002t0001 a0002c0002t0011 a0002c0002t0014 a0009c0020t0001 a0013c0016t0001	a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0022 others(8): Show a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0113 a0002c0002t0011g0106 a0002c0002t0014g0107 a0009c0020t0001g0046 a0013c0016t0001g0105	21	370	0.0568	372	c.-27 others(383): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(365): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTC CCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	370	0.0027	372	c.-27 others(383): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(365): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTC CCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	370	0.0027	372	c.-27 others(383): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(365): Show TACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACGCCCACACTTACACCCACGCT TACATCTACCTCCACGCCCACACTTACACCCACGCTTACATCTACCTCCA CGCCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCGCGCTTA CACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACGCTTA CATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	290	0.0035	372	c.129 others(391): Show c.1290-1046_1290-1045insTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACAC TTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCACGCTT ACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCGCGCTTACACCCACGCTTACATCTACCTCCACGCCCACACTTAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364652	A A	ACTTACAC others(365): Show ACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCC TTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACAATTACACCCACACTTACATCTACCT CCACACCCACAATTACACCCACACTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTCAC ACCCACCCACACTTACACCCACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0094 a0001c0003t0007g0094	1	290	0.0035	372	c.129 others(389): Show c.1290-766_1290-765insCCCACGCTTACATCTACCTCCACACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACC CACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACACCCA CACTTACATCTACCTCCACACCCACAATTACACCCACACTTACATCTACC TCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACTCACA CCCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACA CCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867100	G G	GGGGTGTG others(365): Show GGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTTGGGGG GATGGGGTGTGTGTGTGGTAGTGTGGGGGTGTGTGTGTGTTGGGGGTGGG GTGTGTGGTGGTGTGTGTGGGGGAGTGTGTGTGTTGGGGGTGGGGTGTGT GTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGT GTGTGTGTGTGGGGTGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGTGGG GTGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGT GTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTG TGTGGTAGTGTGTGTGTGGGTGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0381 a0004c0006t0001g0381	1	408	0.0025	372	c.130 others(389): Show c.1309-255_1309-254insGGTGTGTTGGGGGGTGGGGTGTGTGTGT GGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGT GTGTGTGTGTTGGGGGTGGGGTGTGTGGTGGTGTGTGTGGGGGAGTGTGT GTGTTGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTG GGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGTGTGTGTGTTGGGGGG ATGGGGTGTGTGTGTGTGGGGTGTGTGTGTTGGGGGGATGGGGTGTGTGT GTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTG GGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76867100	G G	GGTGTGTG others(365): Show GGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTG TGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGT GTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGT GTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTG TGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGA TGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTG TGTGGTGGTGTGTGTGGGGGAGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01975.hp1 HG02132.hp1 others(3): Show HG01255.hp2 HG01975.hp1 HG02132.hp1 NA18949.hp1 NA18988.hp2 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0004t0001 a0001c0005t0001	a0001c0004t0001g0161 a0001c0004t0001g0165 a0001c0004t0001g0180 others(3): Show a0001c0004t0001g0161 a0001c0004t0001g0165 a0001c0004t0001g0180 a0001c0004t0001g0202 a0001c0004t0001g0237 a0001c0005t0001g0291	6	408	0.0147	372	c.130 others(389): Show c.1309-217_1309-216insTGGGGGGGTGTGTGTGTTGGGGGTGGGG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGG GTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGGTGGGGT GTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTG GGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTA GTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTGGTGGTGTGTGTGGG GGAGTGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LUC7L_chr16_183990_234449	186781	G G	GGGAGGAA others(365): Show GGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGA GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	350	0.0029	372	c.24 others(383): Show c.2416_*2417insTCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2208		chr16	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(365): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGC GACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGG GGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	350	0.0029	372	c.20 others(383): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(365): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTG GCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	246	0.0041	372	c.171 others(389): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19477856	G G	GGGGGAGG others(365): Show GGGGGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGGGGGAGGGGGAGG GGGAGGGGCGGAGAGGGGGGAGGGGCGGAGAGGGGGGAGGGGGGAGAGGG GGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAG GGGGGAGGGGGGGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0013 a0002c0006t0013	a0002c0006t0013g0011 a0002c0006t0013g0011	1	163	0.0061	372	c.525 others(389): Show c.525+8625_525+8626insTCTCCCCCCTCCCCCCCTCCCCCCTCCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCTC TCCCCCCTCCCCCCTCTCCGCCCCTCCCCCCTCTCCGCCCCTCCCCCTCC CCCTCCCCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATAGA others(365): Show TATATAGATTCATATATATATATTCATATATAGATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATAGATTCATATATATTCATATA TAGATTCATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	191	0.0052	372	c.343 others(389): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATCTATATATGAATATATATATATGAATCTATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(365): Show TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	191	0.0052	372	c.343 others(389): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(365): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATATT CATATATAGATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATATTCATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	191	0.0052	372	c.343 others(389): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATCTATATATGAATAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54181843	G G	GAGGGAGG others(365): Show GAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGA AGGAGGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGG GAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGA GGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGG GAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGA AGGAGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGG GAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGA GGGAGGGAAGGAGGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	373	0.0027	372	c.494 others(387): Show c.494-711_494-710insTCTTCCTTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCC CTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTTCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC CTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MCC_chr5_113017106_113493453	113333800	T T	TGTATATA others(365): Show TGTATATATGTACATATATGTATATATGTACATATATACATATATGTACA TATATGTATATATGTACATATATACATATATGTACATATATGTACATATG TACATATACGTATATATGTACATATGTACATATACATATATATGTACATA TATGTACATATATGTACATATGTACATATATACATATATGTACATATATG TACATATGTACATATATACATATATGTACATATGTACATATACGTATATA TGTACATATGTACATATACGTATATATGTACATATGTACATATACGTATA TATGTACATATGTACATATACGTATATATGTACATATGTACATATACGTA TATATGTACATATGTACATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0105 a0001c0018t0007g0105	1	160	0.0063	372	c.627 others(389): Show c.627+6718_627+6719insGTATATGTACATATGTACATATATACGT ATATGTACATATGTACATATATACGTATATGTACATATGTACATATATAC GTATATGTACATATGTACATATATACGTATATGTACATATGTACATATAT ACGTATATGTACATATGTACATATATGTATATATGTACATATGTACATAT ATGTACATATATGTATATATGTACATATGTACATATATGTACATATATGT ACATATATATGTATATGTACATATGTACATATATACGTATATGTACATAT GTACATATATGTACATATATGTATATATGTACATATATACATATATGTAC ATATATGTATATATGTACATATATACATATATGTACATATATAC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(365): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0079 a0079	a0079c0082 a0079c0082	a0079c0082t0057 a0079c0082t0057	a0079c0082t0057g0281 a0079c0082t0057g0281	1	292	0.0034	372	c.377 others(389): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(365): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0095 a0095	a0095c0079 a0095c0079	a0095c0079t0024 a0095c0079t0024	a0095c0079t0024g0187 a0095c0079t0024g0187	1	292	0.0034	372	c.377 others(389): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATTATATA others(365): Show ATTATATATTTATATATTTATATATATAATATAATATTATATAATATATA ATATATATTATATAATATAAAATATATATTATATTATATTATATTATGTA TTATATAATATAATATATAATATTATATATTATAATATATATTATAATAT ATAATATATAATATTATATATTATAATATATATTATAATATATAATATTA TATATTATATTATATAATACATAATATAATATAATATATTATATTATATA ATATTATATAATATATAATATTATATATTATATTATATATTATATATTAT ATTATATAATATATAATATTATATATATTATAACATAATATATAATATAA ATATATATTATAGCATATAATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0002 a0022c0029t0002	a0022c0029t0002g0120 a0022c0029t0002g0120	1	248	0.0040	372	c.292 others(391): Show c.2923-5755_2923-5754insTTATATATTTATATATTTATATATAT AATATAATATTATATAATATATAATATATATTATATAATATAAAATATAT ATTATATTATATTATATTATGTATTATATAATATAATATATAATATTATA TATTATAATATATATTATAATATATAATATATAATATTATATATTATAAT ATATATTATAATATATAATATTATATATTATATTATATAATACATAATAT AATATAATATATTATATTATATAATATTATATAATATATAATATTATATA TTATATTATATATTATATATTATATTATATAATATATAATATTATATATA TTATAACATAATATATAATATAAATATATATTATAGCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATTATATA others(365): Show ATTATATATTTATATATTTATATATATAATATAATATTATATAATATATA ATATATATTATATAATATAAAATATATATTATATTATATTATATTATGTA TTATATAATATAATATATAATATTATATATTATAATATATATTATAATAT ATAATATATAATATTATATATTATAATATATATTATATTATATAATATTA TATATTATATTATATAATACATAATATAATATAATATATTATATTATATA ATATTATATAATATATAATATTATATATTATATTATATATTATATATTAT ATTATATAATATATAATATTATATATATTATAACATAATATATAATATAA ATATATATTATAGCATATAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0098 a0008c0006t0002g0098	1	248	0.0040	372	c.292 others(391): Show c.2923-5755_2923-5754insTTATATATTTATATATTTATATATAT AATATAATATTATATAATATATAATATATATTATATAATATAAAATATAT ATTATATTATATTATATTATGTATTATATAATATAATATATAATATTATA TATTATAATATATATTATAATATATAATATATAATATTATATATTATAAT ATATATTATATTATATAATATTATATATTATATTATATAATACATAATAT AATATAATATATTATATTATATAATATTATATAATATATAATATTATATA TTATATTATATATTATATATTATATTATATAATATATAATATTATATATA TTATAACATAATATATAATATAAATATATATTATAGCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MSH3_chr5_80649652_80881815	80693360	G G	GATAAATA others(365): Show GATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCA CATGTATATGTTTATATAAATATGCACATGTATATGTTTATATAAATATG CACATGTATATGTTTATATAAATATGCACATGTATGTGTTTAGATAAATA TACATGCACATGTATGTGTTTAGATAAATATACATGCACATGTATGTGTT TAGATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATG CACATGTATATGTTTATATAGATAAATATACATGCACATGTATGTTTATA TAGATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCA CATGTATATGTTTATATAGATAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG02293.hp1 HG00735.hp1 HG01099.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0008g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0008g0329	3	362	0.0083	372	c.134 others(393): Show c.1340+14270_1340+14271insAATATACATGCACATGTATATGTT TATATAGATAAATATACATGCACATGTATATGTTTATATAAATATGCACA TGTATATGTTTATATAAATATGCACATGTATATGTTTATATAAATATGCA CATGTATGTGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAA TATACATGCACATGTATGTGTTTAGATAAATATACATGCACATGTATATG TTTATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATA TACATGCACATGTATGTTTATATAGATAAATATACATGCACATGTATGTT TATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAC others(365): Show TTGTATACATTATATATAATATATATAATATTGTATACATTATATATAAT ATATACAATATTATATATATTATATATAATATATACAATATTATATATAT TATATATAATATATACAATATTATATATATTATATATAATATATACAATA TTTATATATATTATATATATTATATATAATATATACATATTATATATTAT ATATATTATATATAATATATACATATTATATATTATATATAATATATATA CATATTATATATTATATATATAATATATATACATATTATATATAATATAT ATACATATTATATTATATATAATATATATACATATTATATATATAATATA TAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	332	0.0030	372	c.262 others(391): Show c.2620-6178_2620-6177insTGTATACATTATATATAATATATATA ATATTGTATACATTATATATAATATATACAATATTATATATATTATATAT AATATATACAATATTATATATATTATATATAATATATACAATATTATATA TATTATATATAATATATACAATATTTATATATATTATATATATTATATAT AATATATACATATTATATATTATATATATTATATATAATATATACATATT ATATATTATATATAATATATATACATATTATATATTATATATATAATATA TATACATATTATATATAATATATATACATATTATATTATATATAATATAT ATACATATTATATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAGAA others(365): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAA GAAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAG AAGAAGAAGCAGAAGAAGCAGAAGAAGCAGAAGCAGAAGCAGAAGCAGAA GCAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	294	0.0034	372	c.677 others(387): Show c.677+224_677+225insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTGCTTCTGCT TCTGCTTCTGCTTCTGCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTTC TGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCT TCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(365): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp1 NA19066.hp1 others(1): Show HG00558.hp1 HG02132.hp1 NA19066.hp1 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0006 a0003c0003t0001g0010 a0003c0003t0001g0006 a0003c0003t0001g0010	4	364	0.0110	372	c.394 others(387): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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