Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNM3_chr1_171836498_172417717	172110082	T T	TAAGATAA others(342): Show TAAGATAAAGTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	136	0.0074	349	c.154 others(370): Show c.1545+17220_1545+17221insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGATAAAGTTCT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(342): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTCTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	212	0.0047	349	c.162 others(362): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTCTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(342): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTCTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	212	0.0047	349	c.162 others(362): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTCTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP6_chr7_154047398_154899285	154590555	A A	ATGGAGTT others(342): Show ATGGAGTTTAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	349	c.627 others(368): Show c.627+23654_627+23655insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTGGAGTTTAACTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(342): Show ATATATACTATATATATAGTATATATATAGTATATATATACTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTAT ATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0133 a0001c0003t0020g0133	1	316	0.0032	349	c.355 others(368): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATACTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATA GTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYNLRB1_chr20_34511422_34545958	34538492	T T	TAAAGCTG others(342): Show TAAAGCTGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	384	0.0026	349	c.248 others(366): Show c.248-2079_248-2078insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGCTGAGG	DYNLRB1	ENSG00000125971.18	transcript	ENST00000357156.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
EGLN1_chr1_231358756_231427287	231400997	T T	TAAGAGAT others(342): Show TAAGAGATCGAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	338	0.0030	349	c.891 others(368): Show c.891+20000_891+20001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAACTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCC ACCGCGCCCGGCCTCGATCTCTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
ENTREP2_chr15_29115252_29575979	29526430	A A	ACAGACTG others(342): Show ACAGACTGCTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGC GGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CACCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	125	0.0080	349	c.219 others(368): Show c.219+44074_219+44075insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAGTAGCAGTCTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(342): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19062.hp2 NA18983.hp1 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0154 a0001c0003t0002g0152 a0001c0003t0002g0154	2	312	0.0064	349	c.231 others(368): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA3_chr3_89102621_89487134	89246423	T T	TAGAATAA others(342): Show TAGAATAACATTTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATTGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0194 a0002c0002t0012g0194	1	200	0.0050	349	c.814 others(368): Show c.814+35917_814+35918insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATTGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAATAACATTTTG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(342): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCAGGATCCCATTTAGGG TGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGG TGTCATATGTTACCGAGTGTCCGTTTACTGTCCCAGGATCCCATTTAGGG TGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGA TGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGA TGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0103 a0002c0103	a0002c0103t0002 a0002c0103t0002	a0002c0103t0002g0271 a0002c0103t0002g0271	1	408	0.0025	349	c.855 others(366): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCAGGA TCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGA TCCCATTTAGGGTGTCATATGTTACCGAGTGTCCGTTTACTGTCCCAGGA TCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGA TCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGA TCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGA TCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGA TCCCATTTAGGATGCCATATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(342): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAG ATAGTGGGGGAAGAGCAAGCGTGGAGGTGTTGGGAGAAGCAAGTGTGGAT GTGCAAGCGTGGAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGGG GAGGAGCAAGGTGGAGGTTGGGACTGGAGCAAATGTGGAGGTGCTGGGGG GAGGAGCAAGCATGGAGGTGGGGAGGTTGGAGCAAGTGTGGAGGTGGGGG GATTGGAGCAAATGTGGATGTGCTGCGGGGGAAGAGCAAGCGTGGAGGTG GGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCGTGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0324 a0004c0005t0001g0324	1	370	0.0027	349	c.49 others(360): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCCACCTCCACGCTTGCTCTTCCCCCGCAGCACATC CACATTTGCTCCAATCCCCCCACCTCCACACTTGCTCCAACCTCCCCACC TCCATGCTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCAGTCCCAAC CTCCACCTTGCTCCTCCCCCCAGCACCTCCACGCTTGCGCCAAGCCCCCC ACCTCCACGCTTGCACATCCACACTTGCTTCTCCCAACACCTCCACGCTT GCTCTTCCCCCACTATCTCCACACCTGCTCCTCCCCCCAGCACCTCCACA TTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
EVA1C_chr21_32407706_32520387	32477799	C C	CACCTCCC others(342): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCT CCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCC CCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTAC GCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCC CCTCCCCCGTACGCCCTCACCTCCCCCCGTACGCCCTCCCCTCCCCTCCC CCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	346	0.0029	349	c.634 others(366): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCT CCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCCG TACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTA CGCCCTCCCCTCCCCCGTACG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
EXOC1L_chr4_55814790_55842489	55830617	C C	CAAAAAAA others(342): Show CAAAAAAAGCATTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	404	0.0025	349	c.122 others(364): Show c.122-702_122-701insTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGCATTTCC	EXOC1L	ENSG00000250821.3	transcript	ENST00000636125.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(342): Show TCCCTAATAATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01517.hp2 NA18964.hp2 others(1): Show HG00673.hp2 HG01517.hp2 NA18964.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016	a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0011g0020 others(1): Show a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0011g0020 a0001c0001t0016g0006	4	190	0.0211	349	c.187 others(368): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAM120B_chr6_170301758_170412067	170399368	G G	GAAGGTAG others(342): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGACAAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0220 a0001c0001t0006g0220	1	289	0.0035	349	c.269 others(368): Show c.2692+3826_2692+3827insCAAAGGTAGAACTATGTCATAACTCT TAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGT GAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGA GTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399368	G G	GAAGGTAG others(342): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00642.hp2 others(56): Show HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 NA18906.hp2 NA18968.hp1 NA19043.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0006 a0001c0015 others(1): Show a0001c0001 a0001c0006 a0001c0015 a0010c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0006t0001 a0001c0015t0001 a0010c0013t0001	a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0227 others(56): Show a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0213 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0221 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0249 a0001c0001t0005g0263 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0209 a0001c0001t0006g0216 a0001c0001t0006g0222 a0001c0001t0006g0256 a0001c0001t0014g0226 a0001c0001t0020g0206 a0001c0001t0025g0187 a0001c0001t0026g0223 a0001c0001t0027g0210 a0001c0006t0001g0253 a0001c0006t0001g0254 a0001c0015t0001g0252 a0010c0013t0001g0237	59	289	0.2042	349	c.269 others(368): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGA GAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399368	G G	GAAGGTAG others(342): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGGGGAAGGTTGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	289	0.0035	349	c.269 others(368): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAG TGAGTGGGGAAGGTTGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGA GAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399480	G G	GTGAGAAA others(342): Show GTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGT AGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTC ATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAG GAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGG GAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTA TGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	289	0.0035	349	c.269 others(368): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGACTGA GAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(342): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG01884.hp1 HG02145.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0001 a0001c0006 a0003c0001	a0001c0006t0002 a0003c0001t0025 a0001c0006t0002 a0003c0001t0025	a0001c0006t0002g0133 a0003c0001t0025g0113 a0001c0006t0002g0133 a0003c0001t0025g0113	2	212	0.0094	349	c.78- others(364): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGG TTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACCGCGCC CGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FBN2_chr5_128252909_128543245	128334877	G G	GCTCATCA others(342): Show GCTCATCACAGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0193 a0004c0005t0001g0193	1	236	0.0042	349	c.397 others(364): Show c.3974-34_3974-33insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATTACTGTGATGAG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	30/64			chr5	TogoVar
FBXL2_chr3_33272442_33393092	33386798	T T	TAAGAACC others(342): Show TAAGAACCTGTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0157 a0001c0001t0030g0157	1	340	0.0029	349	c.12 others(360): Show c.1202_*1203insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAACCTGTCA	FBXL2	ENSG00000153558.17	transcript	ENST00000484457.6	protein_coding	15/15	1203	INFO_REALIGN_3_PRIME	chr3	TogoVar
FGF12_chr3_192134390_192732541	192691815	T T	TAAAAAAC others(342): Show TAAAAAACGAAAGTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	90	0.0111	349	c.13+ others(366): Show c.13+35365_13+35366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCTCCACTTTCGTTTTTT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(342): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAACCGA TCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATCCCATAACCCC TCTACATCCCGCACCCCACCCCAAACGATCCCATAACCCTCTCCATCCCG CACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAAC CGATCCCATGACCCTCTCCATCCCACACCCCACCCCAAACGATCCCATAA CCCTCTCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCAT CCCGCACCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0002 a0002c0003t0010g0002	1	240	0.0042	349	c.109 others(366): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGATCGTTTGGG GTGGGGTGCGGGATGGAGAGGGTTATGGGATCGTTTGGGGTGGGGTGTGG GATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGT TATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGTTATGGGATCGTTT GGGGTGGGGTGCGGGATGTAGAGGGGTTATGGGATCGGTTGGGGTGGTGC GGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGCGGGATGGAGA GGGGTTATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(342): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAACCGA TCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATCCCATAACCCC TCTACATCCCGCACCCCACCCCAAACGATCCCATAACCCTCTCCATCCCG CACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAAC CGATCCCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAA CCCTCTCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCAT CCCGCACCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02818.hp2 others(5): Show HG01243.hp1 HG01261.hp1 HG02818.hp2 HG02922.hp1 HG03130.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0004 a0001c0002t0004 a0001c0005t0008 others(3): Show a0001c0001t0004 a0001c0002t0004 a0001c0005t0008 a0002c0003t0004 a0002c0003t0013 a0002c0003t0026	a0001c0001t0004g0226 a0001c0001t0004g0230 a0001c0002t0004g0228 others(5): Show a0001c0001t0004g0226 a0001c0001t0004g0230 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0005t0008g0231 a0002c0003t0004g0232 a0002c0003t0013g0205 a0002c0003t0026g0238	8	240	0.0333	349	c.109 others(366): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGATCGTTTGGG GTGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGGGGTGGGGTGTGG GATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGT TATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGTTATGGGATCGTTT GGGGTGGGGTGCGGGATGTAGAGGGGTTATGGGATCGGTTGGGGTGGTGC GGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGCGGGATGGAGA GGGGTTATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(342): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAACCGA TCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATCCCATAACCCC TCTACATCCCGCACCCCACCCCAAACGATCCCATAACCCTCTCCATCCCG CACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAAC CGATCCCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAA CCCTCTCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCAT TCCGCACCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18971.hp1 NA18977.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19062.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0016 a0001c0002t0025 a0001c0004t0003 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010 a0003c0007t0001 a0003c0007t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(76): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0011g0001 a0001c0001t0011g0049 a0001c0002t0001g0019 a0001c0002t0001g0024 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0002g0035 a0001c0002t0003g0130 a0001c0002t0005g0167 a0001c0002t0007g0128 a0001c0002t0007g0164 a0001c0002t0016g0200 a0001c0002t0025g0237 a0001c0004t0003g0127 a0002c0003t0002g0062 a0002c0003t0002g0070 a0002c0003t0002g0073 a0002c0003t0003g0131 a0002c0003t0010g0003 a0002c0003t0010g0004 a0002c0003t0010g0005 a0002c0003t0010g0006 a0003c0007t0001g0022 a0003c0007t0002g0023	80	240	0.3333	349	c.109 others(366): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGTGCGGAATGGAGAGGGGTTATGGGATCGTTTGGG GTGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGGGGTGGGGTGTGG GATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGT TATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGTTATGGGATCGTTT GGGGTGGGGTGCGGGATGTAGAGGGGTTATGGGATCGGTTGGGGTGGTGC GGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGCGGGATGGAGA GGGGTTATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FOXK2_chr17_82514732_82609602	82518513	T T	TGGGATCT others(342): Show TGGGATCTTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA TCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0212 a0001c0001t0006g0212	1	308	0.0033	349	c.-13 others(360): Show c.-1376_-1375insGGGATCTTGTAATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT GGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGCGCCCGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding		1218		chr17	TogoVar
FRMPD3_chrX_107444652_107610251	107570243	T T	TGAAATGT others(342): Show TGAAATGTTTACCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03098.hp1 HG02647.hp1 HG02965.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0002 a0002c0006t0002 a0001c0002t0002 a0002c0006t0002	a0001c0002t0002g0077 a0002c0006t0002g0172 a0002c0006t0002g0177 a0001c0002t0002g0077 a0002c0006t0002g0172 a0002c0006t0002g0177	3	183	0.0164	349	c.129 others(368): Show c.1296+5191_1296+5192insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAATGTTTACCAG	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806802	C C	CCCCCTCA others(342): Show CCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCACCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	1	314	0.0032	349	c.26 others(360): Show c.2636_*2637insCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCACCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTG CAGGCCACCTTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2516		chr2	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(342): Show CGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAGGACGGGGTCTGG GAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTG GGTGTTGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGT CTGGGAGTGGAGGGAGTGCGAGTGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19056.hp2 NA18612.hp1 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0150 a0001c0002t0002g0136 a0001c0002t0002g0150	2	384	0.0052	349	c.467 others(364): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGTGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGGAGCGCGAGCG GGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTGGGTGTTAGGA CGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGAGAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGCX_chr2_85539720_85566493	85545712	T T	TAAAAACC others(342): Show TAAAAACCGCTAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0085 a0002c0002t0066g0085	1	410	0.0024	349	c.42 others(360): Show c.4221_*4222insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC CTTTTAGCGGTTTTT	GGCX	ENSG00000115486.13	transcript	ENST00000233838.9	protein_coding	15/15	4221		chr2	TogoVar
GHR_chr5_42418439_42726878	42666179	T T	TAAGTTCT others(342): Show TAAGTTCTACTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCG GACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01243.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0101 a0001c0001t0005g0046 a0001c0001t0005g0101	2	210	0.0095	349	c.137 others(368): Show c.137-22696_137-22695insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCC GGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAGTTCTACTATCTT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GNAQ_chr9_77711097_78036811	77750125	T T	TATTATTT others(342): Show TATTATTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0118 a0001c0001t0010g0118	1	282	0.0036	349	c.736 others(368): Show c.736-21459_736-21458insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGGAAATAAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6			chr9	TogoVar
GPC5_chr13_91393621_92872237	91509404	T T	TAACATAT others(342): Show TAACATATTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0017 a0001c0004t0001g0017	1	42	0.0238	349	c.325 others(368): Show c.325+60493_325+60494insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAACATATTCAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	ACACCGCC others(342): Show ACACCGCCCCCACACCAGCCCCAACACCACCCCCAACACCACCCCCACAC CACCCCAATACCTCCCCAACACCACCCCCAACACCACCCCCACACCACCC CCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCACCCCC ACACCGCCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCCACA CTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCA CCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 NA19240.hp1 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	2	106	0.0189	349	c.27 others(360): Show c.2795_*2796insCACCGCCCCCACACCAGCCCCAACACCACCCCCA ACACCACCCCCACACCACCCCAATACCTCCCCAACACCACCCCCAACACC ACCCCCACACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCCCA CACCGCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACCAC CCCCACACCACCCCCACACCGCCCCCAACACCATCCCCCACACCACCCCC AACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACA CCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCAC CCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
HDHD2_chr18_47102410_47155500	47120647	C C	CCTAGCTT others(342): Show CCTAGCTTTCAGCCTATCTCGGCTTTCGACATGCCTTACTTGCCTTACTC ATTTCTAGCTTTTGATTTTAAGTAAGAGATGTATGATTCTTCCTTTCACT TAAACACTCAGGGGCCACTGTAGGGTTATCAATTGGCCTAATCTGAGCAT CATTGTGTCTCAGGGAATAGGGAGGCCAGAGGAGAGGAGAGAGTTAGAAC AGCTGGCTGGTGAAGCGGTCAGAACACACACAACATTAAATTTGCCATCT TAACATGGGCATGGTTTGTGGCTGCCCAAAACAATTACAACAGTAACACC AAAGATCACTGATCACCACAACACATAATAATAATGAAAAGTTTGAAATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0080	1	366	0.0027	349	c.396 others(366): Show c.396-5648_396-5300dupTATTTCAAACTTTTCATTATTATTATGT GTTGTGGTGATCAGTGATCTTTGGTGTTACTGTTGTAATTGTTTTGGGCA GCCACAAACCATGCCCATGTTAAGATGGCAAATTTAATGTTGTGTGTGTT CTGACCGCTTCACCAGCCAGCTGTTCTAACTCTCTCCTCTCCTCTGGCCT CCCTATTCCCTGAGACACAATGATGCTCAGATTAGGCCAATTGATAACCC TACAGTGGCCCCTGAGTGTTTAAGTGAAAGGAAGAATCATACATCTCTTA CTTAAAATCAAAAGCTAGAAATGAGTAAGGCAAGTAAGGCATGTCGAAAG CCGAGATAGGCTGAAAGCTAG	HDHD2	ENSG00000167220.12	transcript	ENST00000300605.11	protein_coding	4/6			chr18	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(342): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19000.hp2 HG03927.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0006 a0001c0001t0006g0255 a0001c0001t0003g0006 a0001c0001t0006g0255	2	270	0.0074	349	c.178 others(368): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HES4_chr1_993964_1005097	996555	T T	TCACATCT others(342): Show TCACATCTGGGGCCACAGGATGCAGGGTGGGGAGGACAGAAAGGACCCCC CGCTGGAGGGGGGACCCCCCGCTGGAGGGGGCACCCCACATCTGGGGCCA CAGGATGCAGGGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGGCAC CTCACGTCTGGGGCCACAGGAGGCAGGGTGGGGAGGACAGAAAGGACCCC CCGCTGGAGGGGGCACCCCACATCTGGGGCCACAGGATGCAGGGTGGGGA GGGCAGAAAGGACCCCCCGCGGGAGGGGGCACCTCACGTCTGGGGCCACA GGATGCAGGGTGGGGAGGGCAGAAAGGACCCCCCGCTGGAGGGGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	349	c.25 others(360): Show c.2503_*2504insGGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCC TCCCCACCCTGCATCCTGTGGCCCCAGACGTGAGGTGCCCCCTCCCGCGG GGGGTCCTTTCTGCCCTCCCCACCCTGCATCCTGTGGCCCCAGATGTGGG GTGCCCCCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCCTGCCTCCTG TGGCCCCAGACGTGAGGTGCCCCCTCCAGCGGGGGGTCCTTTCTGCCCTC CCCACCCTGCATCCTGTGGCCCCAGATGTGGGGTGCCCCCTCCAGCGGGG GGTCCCCCCTCCAGCGGGGGGTCCTTTCTGTCCTCCCCACCCTGCATCCT GTGGCCCCAGATGTG	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2408		chr1	TogoVar
HLTF_chr3_149025127_149091533	149040162	T T	TAAGAAAG others(342): Show TAAGAAAGAACGAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp1 HG03239.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0034 a0006c0009t0002g0034	1	404	0.0025	349	c.237 others(362): Show c.2377-7_2377-6insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCC CGGCCTCGTTCTTTCTT	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	20/24			chr3	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(342): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01346.hp1 others(1): Show HG00738.hp1 HG00741.hp1 HG01346.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0001 a0001c0001t0001g0037	4	348	0.0115	349	c.53 others(360): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154264243	T T	TAAAGAAA others(342): Show TAAAGAAACACCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0102 a0002c0003t0008g0102	1	264	0.0038	349	c.36+ others(364): Show c.36+1668_36+1669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCAAGGTGTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	3/11			chr6	TogoVar
IRAK2_chr3_10159919_10248745	10197851	C C	CAAAAAAA others(342): Show CAAAAAAAAAAAAAAAATTATTTAAAATATCAGTGACAGTAAAGAAAACA CAAGGAAGAAGGCACTCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCTGAGGAGGGCGGATCATGACGTCAGGAGATCGAGA CCATCCTGGCTAACACGCTGAAACCCTGTCTCTACTAAAAATACAAAAAA TTAGCCGGGTGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCGGGAGGCT GAGGCAGAAGAATGGCGTGAACCTGGGAGGCGGAGCTTGTAGTGAGCCGA GATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGTGAGATTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0099 a0008c0013t0001g0099	1	292	0.0034	349	c.278 others(366): Show c.278-2503_278-2502insATTATTTAAAATATCAGTGACAGTAAAG AAAACACAAGGAAGAAGGCACTCAGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATGACGTCAGGAGA TCGAGACCATCCTGGCTAACACGCTGAAACCCTGTCTCTACTAAAAATAC AAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCGG GAGGCTGAGGCAGAAGAATGGCGTGAACCTGGGAGGCGGAGCTTGTAGTG AGCCGAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGTGAGATTCC GTCTCAAAAAAAAAAAAAAAA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA1_chr5_52782916_52964209	52866318	A A	AGGCTGTG others(342): Show AGGCTGTGTTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0044 a0002c0013t0044	a0002c0013t0044g0284 a0002c0013t0044g0284	1	322	0.0031	349	c.624 others(364): Show c.624+517_624+518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGGCTGTGTTATTTTCT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(342): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 NA19077.hp2 HG00438.hp2 HG00673.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0022 a0001c0003t0001g0037 a0001c0003t0006g0141 a0001c0003t0001g0022 a0001c0003t0001g0037 a0001c0003t0006g0141	3	326	0.0092	349	c.205 others(366): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNG2_chr18_79792938_79905100	79886451	A A	AGGGACAT others(342): Show AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAG GGAGATGGGGATGGGAACATAGGGACATGGGGACGGGGACATGGGGACAC GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	312	0.0032	349	c.625 others(368): Show c.625-12583_625-12582insTGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACATGGGGA CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACATGGGGACA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79886451	A A	AGGGACAT others(342): Show AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAG GGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACAC GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18980.hp2 HG01496.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0094 a0002c0002t0002g0097	2	312	0.0064	349	c.625 others(368): Show c.625-12583_625-12582insTGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACATGGGGACA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH5_chr14_62694464_63050458	62759565	T T	TAGGGTAT others(342): Show TAGGGTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGCCTGGAGGG CAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0092 a0002c0002t0042g0092	1	224	0.0045	349	c.201 others(370): Show c.2019+20162_2019+20163insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGA GATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCT TGCAGTGAGCGGAGATCGCGCCACTGCCCTCCAGGCTGGGTGACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATATACCCT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KDM6A_chrX_44868188_45117779	45048879	A A	ACTCAAGT others(342): Show ACTCAAGTTACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	199	0.0050	349	c.655 others(366): Show c.655-2820_655-2819insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTCAAGTTAC	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(342): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGATGGGGGTGGGGG GGGTGATGACGGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGATG GGGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0149 a0001c0007t0001g0149	1	186	0.0054	349	c.956 others(366): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCGTCATCAC CCCCCCCACCCCCATCATCACCGTCATCACCCCCCCCACCCCCATCATCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCCCCACCCCCATCATC ACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCCCCCACC CCCATCATCACCGTCATCACCCCCCCCACCCCCATCATCACCGTCATCAC CCCCCCCACCCCCATCATCACCGTCATCACCCCTACCGTCATCACCCCCA GCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACC ATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARP1B_chr4_128056312_128216988	128089722	T T	TCTTAATT others(342): Show TCTTAATTTGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	336	0.0030	349	c.359 others(366): Show c.359-1262_359-1261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTAATTTGCATTTCTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr4	TogoVar

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