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
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(588): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0174 a0002c0006t0008g0174	1	118	0.0085	595	c.-75 others(614): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATA GTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACAT ACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTATAC AGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(588): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	313	0.0032	595	c.91+ others(608): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGG TGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(588): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0081 a0002c0002t0023g0081	1	276	0.0036	595	c.195 others(612): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTAATATAGTTACTATATATTAAT ATACTAACTATATTATTAATATAGTTACTATATATTAATATATACTAACT ATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(588): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT TAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTAT GTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGT AGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTT TAAACTATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTA GTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	38	0.0263	595	c.342 others(614): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTA AAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACT ATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAT AGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTA TATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA TAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTTAAACTATA TATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTA TAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGAG others(588): Show AGGAGGAGGGGAGGGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GAGAGGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGGAGG AGAAGGGAGGGGGATGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGA TGGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGAGA GGGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGTGGGGAGGGGGAGG AGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGGAGAAGG GGGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGGAGGAGGAAG GGGGAGGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGG GAGGGAGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGG GGAGGAGGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0325 a0001c0003t0036g0325	1	142	0.0070	595	c.154 others(612): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTT CCCCCTCCTCCCTCCCTCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCCC TCCCCCTCCCCCCTCCCCCTTCCTCCTCCCCCTCCCCTCTTCCTCCCCTT CCCCTCCCTTCCCCTCCCCCTTCTCCCCTTCCCCCTTTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCTCCTCCCCCTCCCCACTCCCTTCTCCCTCCCCC ATCCCCTCCCCCTCCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCCATCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCATCCCCCTCCCTTCTCCTCCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCC CCCCCCTCCCCTCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(588): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTTATATATTATATTAATATATATTA ATTATATTAATATATATTAATTATATTAATATATATTAATATATATTAAT TATATTAATATATATTAATATAATTAATATATATTAATATATATTATATT AATATATATTATATTAATATATATTAATATATATTATATTAATATATATT AATATATATTATATTAATATATATTATATTAATATATATTAATATATATT ATATTAATATATATTAATATATATTATATTAATATATATTATATTAATAT ATATTAATATATATTATATTAATATATATTATATTAATATATATTAATAT ATATTATATTAATATATATTATATTAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0016 a0002c0006t0001g0016	1	267	0.0037	595	c.29- others(608): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTTATATATTATATTAATATATATTAAT TATATTAATATATATTAATTATATTAATATATATTAATATATATTAATTA TATTAATATATATTAATATAATTAATATATATTAATATATATTATATTAA TATATATTATATTAATATATATTAATATATATTATATTAATATATATTAA TATATATTATATTAATATATATTATATTAATATATATTAATATATATTAT ATTAATATATATTAATATATATTATATTAATATATATTATATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTAATATAT ATTATATTAATATATATTATATTAATATATATTAATTATATTAATATATA TTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAX1_chr20_21700664_21723481	21721635	T T	TATATAAC others(588): Show TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATGTATTACATATATAACATATATGTATTACATATATGTATTACATATAT AACATATATGTATTACATATATGTATTACATATATAACATATATGTATTA CATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA CATATAACATATATGTATTACATATATGTATTACACATATAACATATATG TATTACATATATGTATTACACATATAACATATATGTATTACATATATGTA ATACACATATAACATATATGTATTACATATATGTAATACACATATAACAT ATATGTATTACATATATGTAATACACATATAACATATATGTATTACATAT ATGTAATACACATATAACATATATGTATTACATATATGTAATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0001 a0001c0013t0001g0001	1	398	0.0025	595	c.70 others(606): Show c.7073_*7074insATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATGTATTACATATATAACATATATGTATTACATATATGTATTACATATAT AACATATATGTATTACATATATGTATTACATATATAACATATATGTATTA CATATATGTATTACACATATAACATATATGTATTACATATATGTATTACA CATATAACATATATGTATTACATATATGTATTACACATATAACATATATG TATTACATATATGTAATACACATATAACATATATGTATTACATATATGTA ATACACATATAACATATATGTATTACATATATGTAATACACATATAACAT ATATGTATTACATATATGTAATACACATATAACATATATGTATTACATAT ATGTAATACAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3155		chr20	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(588): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCAC CACCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCA CCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACC ATCAACACCACCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0283 a0005c0014t0006g0283	1	140	0.0071	595	c.48 others(606): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGT GGTGATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGT GGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGA TGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTG GTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGT GGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGAT GGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGT GGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGA TGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(588): Show AAAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAG CAGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAA CCAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATG CGAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGAT GCAAGTGAGTACTTTGTGTGACTGGAGCTCAGGGTACCTGGGAGAAAAAG TAAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACA GGACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAA AGCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTA TTTTGAGCTCCTACTATATATATATATATATGTGTATATATATATATATT ATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACA GGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCC TCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0140 a0001c0001t0007g0140	1	63	0.0159	595	c.98- others(610): Show c.98-1457_98-1456insATGGGTGTCACTGTCCAGCTCTCAAGGAAT TCATAGACTAGCAGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGA GTGCCACGCAACCAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGA CTAACTCCATGCGAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTG TGTGTTAGGATGCAAGTGAGTACTTTGTGTGACTGGAGCTCAGGGTACCT GGGAGAAAAAGTAAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTA GGCAGGAGACAGGACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGA CTTTATTCCAAAGCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATT CAACCAATGTATTTTGAGCTCCTACTATATATATATATATATGTGTATAT ATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAG GGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTG TTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCAC TGAGGACAAAAAAAA	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRIMA1_chr14_93713298_93793485	93722287	G G	GTAGTGGT others(588): Show GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGCTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGCTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGT GGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGT AATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTG GTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGCTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0196 a0001c0005t0001g0196	1	383	0.0026	595	c.360 others(610): Show c.360-742_360-741insGCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTAGCACCACCACCCCATTACCACCAGCATCACCACTACCACC ACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCA CCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTA CCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCAT TACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCACTAGCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACC ACCACCCCATTACCACCAGCATCACCACTAGCACCACCACCCCATTACCA CCAGCATCACCACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
RB1_chr13_48298751_48486890	48459888	T T	TTCTTTTC others(588): Show TTCTTTTCTCTTCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	297	0.0034	595	c.210 others(610): Show c.2106+55_2106+56insTCTTTTCTCTTCTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495577	A A	ATGCGGGA others(588): Show ATGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGG GGCAGGGGTACTGGGGGCAGGGATGGGGATGCGGGAAGGTGGGAAGGTGG GGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTACTGGGGCAGGG ATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGG CAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGAAGGTGGGGG AGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTACTGGGGCAGGGATG GGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAG GGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGAAGGTGGGGGAGG GGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGA TGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GCAGGGGTACTGGGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTG CAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	130	0.0077	595	c.-31 others(616): Show c.-319-12980_-319-12979insCCCCCATCCCTGCCCCAGTACCCC TGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCCC ATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCC CCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCAT CCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCC CTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCATCCC CATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTC CCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCCCCACCT CCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCATCCCCAT CCCTGCCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTCCC CCACCTTCCCACCTTCCCGCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(588): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGGGCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	5	0.2000	595	c.880 others(612): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(588): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	81	0.0123	595	c.132 others(612): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF213_chr17_80255852_80403794	80355506	C C	CGGGAATG others(588): Show CGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGA AGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAA GCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0055 a0055	a0055c0083 a0055c0083	a0055c0083t0024 a0055c0083t0024	a0055c0083t0024g0116 a0055c0083t0024g0116	1	262	0.0038	595	c.108 others(614): Show c.10862+951_10862+952insAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAA GAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAA CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(588): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGG AACAGGGCGGGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGAGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCG AGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGAGGGGACAGGGCGA GAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGACAGGGCGGGAGGGGAACAGGGCGGGAGGGGACAGGGCGAGAGGG GGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	20	0.0500	595	c.351 others(614): Show c.351+14310_351+14311insCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTT CCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCTCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCT GTCCCCTCTCCCGCCCTGTTCCCCTCCCGCCCTGTCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTC CCCTCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(588): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATAAATATATTATATATAATATATATAATATAAATATATTATATATAAT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTATATATATTATATATAATATAA ATATATTATATATATTATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT AATATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0153 a0001c0001t0008g0153	1	132	0.0076	595	c.-70 others(612): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATATTATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATATTATATATATTATA TATAATATATTTATATTATATATTATATATAATATATTTATATTATATAT TATATATAATATATTTATATTTATATAATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTTATGTATAATATATATAATATAT TTATATTTATGTATAATATATATAATATATTTATATTTATGTATAATATA TATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726454	G G	GGGAGGAG others(588): Show GGGAGGAGGGAGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGCAGGGAGG GAGAGGGAGGCAGGGAGGGAGAGGGAGGCGGGAGGAGGAGGGAGAGGGAG GCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGC AGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAG GGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGG AGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGTGGGAGGGAGGGAGACGGAGGGAGGGAGGGAGGGAGGG AGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGTGGGAGGGAG GGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGG AGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAG GGAGGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGAGGGGGAGGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0031 a0002c0012t0004g0031	1	132	0.0076	595	c.227 others(614): Show c.2271-1971_2271-1970insGCCTCCCCCTCTCCCTGCCTCCCTGC CTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCC CTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCT CCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCACCCTCCCTCTCCCTCC CTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCGTCTCCCT CCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCC CTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCT CCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCT CTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCC CTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCT CCCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCTCCTCCCGCCTCCCTC TCCCTCCCTGCCTCCCTCTCCCTCCCTGCCTCCTCTCCCTCCCTCCTCCT CCCTCCCTCTCCCTCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(588): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATAAATATATTATATATTATAATATATAATAT ATAATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATAATATATTATATTTTATAATATATAATATATTA TATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATA TTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATATT TTATAATATATAAAATATATTATATTTTATAATATATAAAATATATTATA TTTTATAATATATAATATATATTATATTTTATAATATATAATATATATTA TATTTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	161	0.0062	595	c.17 others(614): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATAT TATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTA TAAAATATAATATATATTATATATTATAAAATATAATATATATTATATAT TATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(588): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAG GAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGGGGGAAGGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGG GGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	135	0.0074	595	c.12 others(606): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCT CCTCCCCCTTCCCCCTTCCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTT CCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTC CCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCC TCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCC TCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCC CTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCC CTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGC CCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCC TCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246325076	G G	GGCGGGAA others(588): Show GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGG GGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGG GAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	148	0.0068	595	c.531 others(612): Show c.531+2124_531+2125insGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCT CCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(588): Show GGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	283	0.0035	595	c.909 others(610): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCGTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(588): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	3	0.3333	595	c.597 others(612): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCC CTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(588): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	3	0.3333	595	c.597 others(612): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCC CTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(588): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGA GAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGA GAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGAGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	4	0.2500	595	c.157 others(614): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCG TTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTT CCCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCT CCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTC TCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGC TCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCT CCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(588): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	10	0.1000	595	c.129 others(616): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCTGG TGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(588): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	10	0.1000	595	c.129 others(616): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418794	T T	TCCTTCCC others(588): Show TCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCAT TCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCAT CCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCT TCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTC CCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCC CTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTC CCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTC CCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCA CCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCC ACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCC TCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	92	0.0109	595	c.215 others(612): Show c.2154+660_2154+661insCCCTTCTCTCCCTCCCTTTCCTTCCCTT CCCTCCCTCCCTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTC CCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTT TCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTC TTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACG TCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTC TCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTC TCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTT TCCTTCCCCCATCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(588): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATATTATATATACATTATATATATATATATTATATATACATTATATATAA TATATATATACATTATATATATATATTATATATACATTATATATATATAT TATATATACATTATATATATATATATTATATATACATTATATATATATAT ATTATATATACATTATATATATATATTATATATACATTATATATATATAT TATATATACATTATATATATATATTATATATACATTATATATATATTATA TATACATTATATATATATATTATATATACATTATATATATATATTATATA TACATTATATATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATTATATATTATAT ATACATTATATATATCATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	149	0.0067	595	c.102 others(614): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATAATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAATGTATA TATAATATATATATAATGTATATATAATATATATATATAATGTATATATA ATATATATATATAATGTATATATAATATATATATAATGTATATATAATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATAATGTATATATAATATATATATATATAATGTATATATAATATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATAATGTATATATATATTATATATAATGTATATATAATATATATAT ATATAATGTATATATAATATATATATATATAATGTATATATAATATATAT ATATAATGTATATATAATATATATATATAATGTATATATAATATATATAT ATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930916	G G	GGGAGGCT others(588): Show GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCTGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAG GCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02083.hp1 HG03688.hp2 HG02080.hp2 HG02083.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0048 a0001c0001t0001g0015 a0001c0001t0002g0048	3	441	0.0068	595	c.46 others(606): Show c.4674_*4675insTTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCC TGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCCA GCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4453		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152125	G G	GGGGAGTG others(588): Show GGGGAGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGG GAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAG AGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGA GAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGG TTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTT GAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGGGAGAGTGGGGTTGGGAAGGGGAGTGAGAGTGGGGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	223	0.0045	595	c.47 others(606): Show c.4753_*4754insGGGAGTGAGAGTGGGGATGAGAAGGGGAGTGAGA GAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGT GGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGT GAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAG AAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGGGAGAGTGGGGTTGGGAAGGGGAGTGAGAGT GGGGGTGAGAA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4383		chr4	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(588): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0139 a0013c0020t0002g0139	1	8	0.1250	595	c.657 others(610): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTAGTG others(588): Show GTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTG TGTATGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGT GTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTG TGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGT GTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGT GGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGT GGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGT GGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTG TATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGT GTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTG TGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGT GTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02818.hp1 HG03139.hp1 others(1): Show HG02083.hp1 HG02818.hp1 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0185 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0185 a0001c0001t0001g0267 a0001c0001t0002g0257	4	6	0.6667	595	c.36 others(610): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTATGTGGGGGTGTGG TGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGG TGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGT GTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGT GTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTG GTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGGGT GTGTTCGTGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAG TGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTATGT others(588): Show GTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTT TGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGT GTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTAT GTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTAT GTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTG TGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGT ATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTA GTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGT ATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGT GTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	3	0.3333	595	c.36 others(610): Show c.36-681_*36-680insTGTAGTGTGGGGTGTGTGTAGTGTGTGGTA TGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTG GTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGT TTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTG TATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGG TGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGG TATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTAT GTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATG TGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGT GGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGT GGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGT ATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTA TGTGGTGTGTATGTA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(588): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACAACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCG AGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCC CTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGC CGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCC ACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	83	0.0120	595	c.61 others(606): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGC CCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTA GGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCC CGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCA GCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCC AGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249541	C C	CACGGGCA others(588): Show CACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAG GCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA CGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACG GGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCC TACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGG GCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTG GACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	320	0.0031	595	c.56 others(606): Show c.5661_*5662insTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGC GGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTG TCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCT CCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCC TCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGG AGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTC CCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCC CAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTC CCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAG TGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCC GGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCA GGGCTGCCCGT	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4370		chr1	TogoVar
VWA2_chr10_114234254_114299489	114253209	C C	CCCCCTCC others(588): Show CCCCCTCCCCATCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCT CCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCT CCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCT CCCCTCCCCCTCTCTCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCC CCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCT CTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0038 a0003c0003t0038	a0003c0003t0038g0048 a0003c0003t0038g0048	1	238	0.0042	595	c.53- others(608): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCC CTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCCTC CCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCT GTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCC GTCCCCCTCCTCTCCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCT CCCCCCTCCCCCT	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13			chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(588): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTT CCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	182	0.0055	595	c.-10 others(612): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCGTTCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCC TTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(588): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0143 a0001c0001t0017g0143	1	100	0.0100	595	c.-10 others(612): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC CTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(588): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATATACGTATATATACATATATACATGTATATATATA TACGTATATATACATATATACATGTATATATATATACGTATATACACATA TATATACATGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	183	0.0055	595	c.-42 others(606): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATATACGTATATATACATATAT ACATGTATATATATATACGTATATATACATATATACATGTATATATATAT ACGTATATACACATATATATACATGTATATATATGTGTATATATACATGT ATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(589): Show TTTATATATTTATATATTTATATATTCATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTATATATTTTTA TATTTATAGATAAATATATAAATATTTATATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0011 a0003c0064t0011	a0003c0064t0011g0229 a0003c0064t0011g0229	1	286	0.0035	596	c.130 others(615): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATATAAATAT TTATATATTTATCTATAAATATAAAAATATATAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATGAATAT ATAAATATATAAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADARB2_chr10_1172313_1742525	1464707	C C	CGCTGGAG others(589): Show CGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCA GTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCAC ACACATGCGCTGGGGGCAGTCACAGCGGGCAGTGCGCTGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCG TGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCA GTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCAC ACACGCGCTGGGGACAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGG ACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTG CTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCAGT CACAGTGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCGCAC ACGCGCTGGGGGCAGTCACAGCAGGCAGTGCGCCGGAGAAGAGGGTGGAC ACACACTCCCCCACACACGCGCTGGGGACAGTCACAGCGGGCAGCGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18995.hp1 NA19011.hp2 others(1): Show NA18945.hp2 NA18995.hp1 NA19011.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004	a0001c0001t0003g0085 a0001c0001t0003g0102 a0002c0002t0002g0050 others(1): Show a0001c0001t0003g0085 a0001c0001t0003g0102 a0002c0002t0002g0050 a0002c0002t0004g0088	4	81	0.0494	596	c.101 others(615): Show c.101-85548_101-85547insACGCTGCCCGCTGTGACTGTCCCCAG CGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCTG CTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTGTGTCCACCCTCTTC TCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCCGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCT GTGACTGTCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CGGCGCACTGCCCGCTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTG TGTCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCG TGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCGCACTGCCCGCTGT GACTGCCCCCAGCGCATGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CAGCACGCTGCCCGCTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTG TGTCCACCCTCTTCTCCAGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(589): Show AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAAT GCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGG GTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTC ATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCC ATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCGCTTAACC ATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAAC ACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp1 NA18986.hp2 HG00544.hp2 HG02040.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0020 a0001c0001t0001g0081	3	4	0.7500	596	c.201 others(613): Show c.201-1312_201-1311insTGGGAGGCCGAGGCGGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCA GCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAG CTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAG TGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAA TCTAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATC TAAAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAAT TGACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAG TTTCCCCCCATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAAC CGCTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTT ATAATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATG CCTGTTATCCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(589): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	223	0.0045	596	c.36 others(607): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375130	A A	AGGGAGGA others(589): Show AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAGGGTGGGAGGAGGAGGGAGG TGGAGGAGGGAGGGTGGAGGATGGGAGGGAGGTGGTGGGAGGGGTAGGGA GGAGGGGAGGGAGGGTGGTGGAAGGTGGGTGGAGGAAGGGTGGGAGGTGT TGGAGGGTGGGAGGAGGGGTGGGAGGGGAGGTGGTGGGAGGGTGGAGGGT GGGAGGGAGGGGAGGGAGGGAGGTGGAAGGGAGGGAGGTGGGAGGGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0133 a0003c0006t0001g0133	1	181	0.0055	596	c.784 others(611): Show c.784-310_784-309insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAGGGTGGGAGGAGGAGGGAGGTG GAGGAGGGAGGGTGGAGGATGGGAGGGAGGTGGTGGGAGGGGTAGGGAGG AGGGGAGGGAGGGTGGTGGAAGGTGGGTGGAGGAAGGGTGGGAGGTGTTG GAGGGTGGGAGGAGGGGTGGGAGGGGAGGTGGTGGGAGGGTGGAGGGTGG GAGGGAGGGGAGGGAGGGAGGTGGAAGGGAGGGAGGTGGGAGGGTGGGAG GAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(589): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGGA AGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGG GAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGG GGGAGCGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGG AGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG TGGGAGGAGGAAGGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0039	1	8	0.1250	596	c.-70 others(605): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGT GGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAG GGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAG GAAGGGGGGAAGGGGGAGCGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGGAAGAAGGAGGGGGAAGTGGG GAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C1QTNF12_chr1_1237453_1251722	1249475	C C	CACGGGCA others(589): Show CACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAG GCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA CGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACAACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGC TGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGG CTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAC GGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCC CTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTG GGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCT GGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0097 a0007c0007t0001g0097	1	326	0.0031	596	c.-27 others(607): Show c.-2786_-2785insTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGC GGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTG TCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCT CCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCC TCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGG AGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTTGT CCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTC CCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCT CCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGA GTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCC CGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCC AGGGCTGCCCGT	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2754		chr1	TogoVar
CCDC198_chr14_57464300_57498857	57498823	A A	ATATATAT others(589): Show ATATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTGTGTATATATGGTATATAT ATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATATATATA ATATGGTATATATATGTGTGTGTGTGTATATGGTATATATATAATATGGT ATATATATGTGTGTGTGTATATGGTATATATATATAATATGGTATATATA TGTGTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGT GTGTATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATATGGTATATATATAAAATATGGTATATATAGTGTGTGTGTGTG TATATATGGTGTATATATATAATATGGTATATATATGTGTGTGTGTGTGT ATATATGGTATATATATATAATGTGGTATATATATGTGTGTGTGTATATA TGGTATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATATGG TATATATATATAATATGGTATATATATGTGTGTGTGTGTATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03139.hp1 HG02717.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	338	0.0059	596	c.-51 others(607): Show c.-5109_-5108insCCATATATACACACACACACATATATATACCATA TTATATATATATACCATATATACACACACACACACATATATATACCATAT TATATATATACCATATATACACACACACATATATATACCACATTATATAT ATATACCATATATACACACACACACACATATATATACCATATTATATATA TACACCATATATACACACACACACACTATATATACCATATTTTATATATA TACCATATATACACACACACACACATATATATACCATATTATATATATAT ACCATATATACACACACACACATATATATACCATATTATATATATATACC ATATACACACACATATATATACCATATTATATATATATACCATATACACA CACACATATATATACCATATTATATATATACCATATACACACACACACAT ATATATACCATATTATATATATACCATATACACACACACACACATATATA TACCATATTATATATATATACCATATATACACACACACACATATATATAC CATATTATATATATATACCATATACACACACACACACATATATATACCAT ATTATATATATA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4967		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498823	A A	ATATATAT others(589): Show ATATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTGTGTATATATGGTATATAT ATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATATATATA ATATGGTATATATATGTGTGTGTGTGTGTATATGGTATATATATAATATG GTATATATATGTGTGTGTGTATATGGTATATATATATAATATGGTATATA TATGTGTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGT GTGTGTATATATGGTATATATATATAATATGGTATATATATGTGTGTGTG TGTGTATATATGGTATATATATAAAATATGGTATATATAGTGTGTGTGTG TGTATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGT GTATATATGGTATATATATATAATGTGGTATATATATGTGTGTGTGTATA TATGGTATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATAT GGTATATATATATAATATGGTATATATATGTGTGTGTGTATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0032 a0001c0006t0001g0032	2	338	0.0059	596	c.-51 others(607): Show c.-5109_-5108ins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	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4967		chr14	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(589): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCTTCTT CCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCC TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	8	0.1250	596	c.69 others(607): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTC CTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCC TTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCC CCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCC TCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar

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