Joint Open Genome and Omics Platform (JoGo)

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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
PAK1_chr11_77317017_77479094	77332345	G G	GGGGGGAA others(243): Show GGGGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAG GGGAGGGGAGCGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGA A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	302	0.0033	250	c.155 others(267): Show c.1551+384_1551+385insTTCCCTTCCCTTCCTTCCCCTCCCCTCC CCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTTCCCTTCCCTTCCCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(243): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGG GGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAA G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	302	0.0033	250	c.155 others(267): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(243): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTACCCTCCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTT C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	178	0.0056	250	c.773 others(265): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARVB_chr22_44019302_44177939	44115600	A A	AACTAAGG others(243): Show AACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTG CACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGAT ACATTGTTACTAAGGCCCTACACCAGAATGGATACATTGTACATTGTTAC TAAAGCCTTGCACCAACATGGACACATCATTACTAACTAAGGCCCTGCAC CAACACAGATACATTGTTACTAAGGCCCTGTACCAACACAGATACATTGT T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0041 a0001c0027t0041	a0001c0027t0041g0320 a0001c0027t0041g0320	1	332	0.0030	250	c.274 others(267): Show c.274-3400_274-3399insGTAAGGCCCTGCACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGGCC CTACACCAGAATGGATACATTGTACATTGTTACTAAAGCCTTGCACCAAC ATGGACACATCATTACTAACTAAGGCCCTGCACCAACACAGATACATTGT TACTAAGGCCCTGTACCAACACAGATACATTGTTACTAAGGCCCTGCACC AACACAGATACATTGTTACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(243): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00673.hp1 others(34): Show HG00099.hp1 HG00280.hp1 HG00673.hp1 HG00741.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01952.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp2 NA18941.hp2 NA18975.hp1 NA18980.hp2 NA19005.hp2 NA19011.hp1 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0036 a0001c0037 a0001c0039 a0004c0014 a0011c0044	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(21): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0003 a0001c0007t0006 a0001c0010t0001 a0001c0012t0002 a0001c0013t0001 a0001c0036t0001 a0001c0037t0002 a0001c0039t0016 a0004c0014t0001 a0011c0044t0001	a0001c0001t0002g0213 a0001c0001t0002g0296 a0001c0001t0009g0295 others(34): Show a0001c0001t0002g0213 a0001c0001t0002g0296 a0001c0001t0009g0295 a0001c0001t0010g0294 a0001c0002t0003g0293 a0001c0003t0001g0090 a0001c0003t0001g0099 a0001c0003t0001g0106 a0001c0003t0002g0047 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0081 a0001c0004t0001g0098 a0001c0004t0001g0140 a0001c0004t0002g0046 a0001c0004t0002g0071 a0001c0004t0002g0078 a0001c0004t0002g0097 a0001c0004t0003g0083 a0001c0004t0004g0087 a0001c0004t0008g0045 a0001c0006t0001g0079 a0001c0006t0001g0091 a0001c0006t0001g0112 a0001c0006t0001g0116 a0001c0006t0002g0096 a0001c0007t0002g0095 a0001c0007t0003g0108 a0001c0007t0006g0070 a0001c0010t0001g0297 a0001c0012t0002g0119 a0001c0013t0001g0080 a0001c0036t0001g0110 a0001c0037t0002g0063 a0001c0039t0016g0118 a0004c0014t0001g0077 a0011c0044t0001g0117	37	336	0.1101	250	c.-37 others(261): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(243): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01981.hp2 others(1): Show HG00280.hp2 HG00733.hp2 HG01981.hp2 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0007t0002	a0001c0003t0001g0072 a0001c0003t0002g0054 a0001c0004t0001g0069 others(1): Show a0001c0003t0001g0072 a0001c0003t0002g0054 a0001c0004t0001g0069 a0001c0007t0002g0105	4	336	0.0119	250	c.-37 others(261): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD1_chr2_241844884_241863894	241848173	A A	ACAATGGA others(243): Show ACAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCCGCGCTG TCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGTGCGCAGCGCTG TCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTG TGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGTGCTGCGCTG TCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCGCGCTGCGCTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	407	0.0025	250	c.28 others(261): Show c.2884_*2885insACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTC TCTCATTCATCCACTGACAGCGCAGCACGCCAGCATCCAGAACTCAAGGC TCTCAAACACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGC TTTCATTCATCCATTGACAGCGCTGCGCACCAGCGTCCAGAACTCACGTC TCTCATTCATCCACTGACAGCGCGGCGCGCCAGCATCCAGAACTCAAGGC TCTCATTCATCCATTG	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1710		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848616	T T	TGCGCTGT others(243): Show TGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGATGCTGGCGCGC TGCGCTGTGAATGGGTGTATGAGAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCGCGC CGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGTGCAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0116 a0002c0003t0002g0116	1	407	0.0025	250	c.24 others(261): Show c.2441_*2442insTGTGCACCAGCGTCCAGAACTCACGTCTCTCATT CATCCACTGACAGCGCGGCGCGCCAGCATCCAGAACTCAAGGCTCTCATT CATCCATTGTCAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAA CACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATA CACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCACGTCTCTCATT CATCCACTGACAGCGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1267		chr2	TogoVar
PDE1C_chr7_31746179_32075407	31886776	A A	ACTCAGAA others(243): Show ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT ACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01993.hp2 HG04228.hp2 others(1): Show HG01070.hp1 HG01993.hp2 HG04228.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0097 a0001c0001t0001g0216 a0001c0002t0001g0075 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0216 a0001c0002t0001g0075 a0001c0006t0001g0228	4	262	0.0153	250	c.129 others(267): Show c.129-5917_129-5916insAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAG	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE4DIP_chr1_148839428_149038016	149023714	A A	ATGTGTGC others(243): Show ATGTGTGCGCACATATATATGTACATGTATGTGTGCGCACATATATATGT ACATGTATGTGTGCGCACATATATATGTACATGTATGTGTGCGCACATAT ATATGTACATGTATGTGTGCGCACATATATATGTACATGTATGTGTGCGC ACATATATATGTACATGTATGTGTGCGCACATATATATGTACATGTATGT GTGCGCACATATATATGTACATGTATGTGTGCGCACATATATATGTACAT G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0021 a0001c0004t0010g0021	1	24	0.0417	250	c.628 others(267): Show c.6284-730_6284-729insGTGTGCGCACATATATATGTACATGTAT GTGTGCGCACATATATATGTACATGTATGTGTGCGCACATATATATGTAC ATGTATGTGTGCGCACATATATATGTACATGTATGTGTGCGCACATATAT ATGTACATGTATGTGTGCGCACATATATATGTACATGTATGTGTGCGCAC ATATATATGTACATGTATGTGTGCGCACATATATATGTACATGTATGTGT GCGCACATATATATGTACATGT	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE6B_chr4_620573_675782	651173	A A	AGCAGTGG others(243): Show AGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG03139.hp2 HG02055.hp1 HG03041.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0093 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0093	3	308	0.0097	250	c.712 others(267): Show c.712-2580_712-2579insGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDIA2_chr16_278164_292215	285937	C C	CCCCAACA others(243): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTC T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02897.hp2 HG02257.hp1 HG02897.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0024 a0003c0008t0001g0177 a0003c0008t0001g0024 a0003c0008t0001g0177	2	436	0.0046	250	c.111 others(267): Show c.1119+240_1119+241insACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAAC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741292	G G	GGGGGGGC others(243): Show GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	358	0.0028	250	c.143 others(265): Show c.143-358_143-357insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741453	C C	CGGGGGGG others(243): Show CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0042 a0001c0001t0033g0125 a0001c0001t0033g0042 a0001c0001t0033g0125	2	358	0.0056	250	c.143 others(265): Show c.143-208_143-207insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977277	C C	CCCGCCAC others(243): Show CCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	408	0.0025	250	c.215 others(267): Show c.2150-654_2150-653insAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGCGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(243): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTTTCTTCCTCCTCCT CCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	358	0.0028	250	c.44 others(261): Show c.4424_*4425insGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGA GGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGG GAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAAGGAGGAGGGAGGAAGAAG GGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGG AGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGA GGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(243): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCT CCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	358	0.0028	250	c.44 others(261): Show c.4424_*4425insGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGA GGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGG GAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAG AAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGA GGGAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PEX5_chr12_7184686_7216459	7196965	T T	TAATGTAA others(243): Show TAATGTAATAATTATATGTCATATATAATGTAATAATTATGTCATATATA ATGTAATAATTATATATGTCATATGTAATAATTATGTCATATATAATGTA ATAATTATATATGTCATATATAATGTAATAATTATATATGTCATATACAA TGTAATCATATGTCATATACAATGTAATAATTATATATGTCATATACAAT GTAATAATTATATATGTCATATACAATGTAATAATTATATATGTCATGTA C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0204 a0001c0001t0017g0204	1	428	0.0023	250	c.449 others(267): Show c.449-2030_449-2029insGTCATATATAATGTAATAATTATGTCAT ATATAATGTAATAATTATATATGTCATATGTAATAATTATGTCATATATA ATGTAATAATTATATATGTCATATATAATGTAATAATTATATATGTCATA TACAATGTAATCATATGTCATATACAATGTAATAATTATATATGTCATAT ACAATGTAATAATTATATATGTCATATACAATGTAATAATTATATATGTC ATGTACAATGTAATAATTATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6210574	A A	AGTCTTGA others(243): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	432	0.0023	250	c.77- others(265): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210593	A A	ATAGACGG others(243): Show ATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTA ATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTA ATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTA ATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTA ATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTA C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0289 a0001c0001t0016g0289	1	432	0.0023	250	c.77- others(265): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTACTAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210924	A A	AGTCTTGA others(243): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCACCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	432	0.0023	250	c.77- others(265): Show c.77-2691_77-2690insAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCACCATG TTAGCCAGGATGGTCTTGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIK3C2B_chr1_204417633_204499805	204471093	T T	TTGGTATT others(243): Show TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp2 HG03540.hp1 others(2): Show HG02896.hp2 HG03225.hp2 HG03540.hp1 NA19057.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0010 a0001c0005 a0001c0006 a0001c0010	a0001c0005t0003 a0001c0006t0010 a0001c0010t0001 a0001c0005t0003 a0001c0006t0010 a0001c0010t0001	a0001c0005t0003g0104 a0001c0006t0010g0085 a0001c0010t0001g0091 others(2): Show a0001c0005t0003g0104 a0001c0006t0010g0085 a0001c0010t0001g0091 a0001c0010t0001g0092 a0001c0010t0001g0093	5	302	0.0166	250	c.-84 others(267): Show c.-84-1457_-84-1208dupGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIP5K1C_chr19_3625183_3705468	3649163	A A	ATGCCCAC others(243): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0148 a0001c0002t0022g0148	1	332	0.0030	250	c.112 others(267): Show c.1128-456_1128-455insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649213	A A	ATGCCCAC others(243): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0178 a0001c0002t0003g0178	1	332	0.0030	250	c.112 others(267): Show c.1128-506_1128-505insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(243): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	332	0.0030	250	c.112 others(267): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(243): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01168.hp1 others(12): Show HG00639.hp1 HG00738.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG02735.hp1 HG03492.hp2 HG04228.hp1 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0001g0192 a0001c0001t0012g0029 a0001c0001t0012g0077 a0001c0001t0012g0128	15	332	0.0452	250	c.112 others(267): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(243): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0013 a0001c0001t0012g0013	1	332	0.0030	250	c.112 others(267): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(243): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02683.hp1 HG01167.hp2 HG01169.hp2 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0040 a0001c0002t0003 a0001c0002t0040	a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0040g0281 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0040g0281	3	332	0.0090	250	c.112 others(267): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PLEKHG4B_chr5_87168_194966	165377	G G	GTACTCCT others(243): Show GTACTCCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACA C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0109 a0001c0002t0013g0109	1	210	0.0048	250	c.347 others(269): Show c.3476+1831_3476+1832insCTCCTCTGACGGGGCGGGGCTCACAG TAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGC TCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG CGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGAC GGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCC TCTGACGGGGCGGAGCTCACACTA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165410	G G	GCTCTGAC others(243): Show GCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGG CGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTG ACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAAT C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0006 a0001c0037t0006	a0001c0037t0006g0045 a0001c0037t0006g0045	1	210	0.0048	250	c.347 others(269): Show c.3476+1876_3476+1877insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCT CTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGT AATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATCCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	194146	A A	ACTGTCCT others(243): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02258.hp2 others(11): Show HG01261.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp2 NA18522.hp1 NA19043.hp1	a0001 a0006 a0010 others(4): Show a0001 a0006 a0010 a0017 a0032 a0035 a0037	a0001c0001 a0006c0021 a0006c0070 others(8): Show a0001c0001 a0006c0021 a0006c0070 a0006c0071 a0006c0073 a0010c0014 a0010c0069 a0017c0029 a0032c0058 a0035c0060 a0037c0074	a0001c0001t0032 a0006c0021t0018 a0006c0021t0056 others(10): Show a0001c0001t0032 a0006c0021t0018 a0006c0021t0056 a0006c0070t0054 a0006c0071t0018 a0006c0073t0020 a0010c0014t0019 a0010c0014t0055 a0010c0069t0019 a0017c0029t0112 a0032c0058t0040 a0035c0060t0020 a0037c0074t0037	a0001c0001t0032g0094 a0001c0001t0032g0144 a0006c0021t0018g0198 others(11): Show a0001c0001t0032g0094 a0001c0001t0032g0144 a0006c0021t0018g0198 a0006c0021t0056g0199 a0006c0070t0054g0207 a0006c0071t0018g0202 a0006c0073t0020g0193 a0010c0014t0019g0205 a0010c0014t0055g0201 a0010c0069t0019g0204 a0017c0029t0112g0155 a0032c0058t0040g0158 a0035c0060t0020g0188 a0037c0074t0037g0203	14	210	0.0667	250	c.11 others(263): Show c.11823_*11824insCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCAGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		4181		chr5	TogoVar
PLEKHN1_chr1_961482_980865	977224	C C	CCAACCCG others(243): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0001 a0001c0033t0001g0001	1	422	0.0024	250	c.26 others(261): Show c.2649_*2650insCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1360		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977277	C C	CCCGCCAC others(243): Show CCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01934.hp1 HG01074.hp1 HG01934.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0034 a0001c0001 a0022c0034	a0001c0001t0001 a0022c0034t0008 a0001c0001t0001 a0022c0034t0008	a0001c0001t0001g0001 a0022c0034t0008g0003 a0001c0001t0001g0001 a0022c0034t0008g0003	2	422	0.0047	250	c.27 others(261): Show c.2702_*2703insCCGCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1413		chr1	TogoVar
POR_chr7_75910155_75991855	75988980	G G	GGGGTGGA others(243): Show GGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGG TGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGT GGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGA GGGGGTGTGGAGGGGAAGGCGGGGAGGGGGGTGTGGAGGGGAAGGCCGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	278	0.0036	250	c.24 others(261): Show c.2499_*2500insGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGG GGAAGGCGGGGAGGGGGTGTGGAGGGAAGGCCGGGTGGGGGGGTGGAGGG GAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGG AGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGG AGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGGTGTG GAGGGGAAGGCCGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2126		chr7	TogoVar
PPP1R16B_chr20_38800697_38928024	38896029	C C	CCCTTCCT others(243): Show CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCT TCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCC T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	244	0.0041	250	c.467 others(265): Show c.467+319_467+320insCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10			chr20	TogoVar
PTPRM_chr18_7562316_8411856	7985252	C C	CATAAATA others(243): Show CATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA CTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	80	0.0125	250	c.113 others(271): Show c.1132+29841_1132+29842insAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985342	C C	CGTATATA others(243): Show CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTAAATATATACATATACTGGTAGATACGTAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp1 HG02965.hp2 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0012 a0001c0008 a0001c0012	a0001c0008t0002 a0001c0012t0002 a0001c0008t0002 a0001c0012t0002	a0001c0008t0002g0025 a0001c0012t0002g0035 a0001c0008t0002g0025 a0001c0012t0002g0035	2	80	0.0250	250	c.113 others(271): Show c.1132+29928_1132+29929insGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTAAATATAT ACATATACTGGTAGATACGTAAATATATACATATACTGGTAGATACGTAT ATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(243): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 NA20129.hp2 HG02109.hp1 HG02647.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0018 a0001c0001t0035 a0002c0003t0018 a0001c0001t0018 a0001c0001t0035 a0002c0003t0018	a0001c0001t0018g0044 a0001c0001t0035g0045 a0002c0003t0018g0101 a0001c0001t0018g0044 a0001c0001t0035g0045 a0002c0003t0018g0101	3	295	0.0102	250	c.139 others(269): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(243): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTTTCTTCCTCCTCCT CCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTT C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	354	0.0028	250	c.365 others(265): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTC CCTCCTCCTTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(243): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCT CCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTT C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0168 a0001c0001t0006g0168	1	354	0.0028	250	c.365 others(265): Show c.365+415_365+416insCCCTCCTCCCTCCCTCCTCCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTC CCTCCTCCTTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS11_chr16_263307_280944	267501	C C	CACACATG others(243): Show CACACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCT CACAGTACACCTGCACACGTGCACTACACACAATCACACGTGCTATGCAT ACACACCACACGTGTGCCTCACAGTGCTACACATGCCTCATACACATGAC ACGTGCACACACCACATGCATGCCTCAGTACACCTGCACACGTGCACTAA ACACAATCACACATGCTATGCGTACACACCACACGTGTGCCTCTCAGTGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG03579.hp2 HG02280.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0133 a0001c0001t0005g0183 a0001c0001t0005g0111 a0001c0001t0005g0133 a0001c0001t0005g0183	3	456	0.0066	250	c.17 others(261): Show c.1767_*1768insAGCACTGAGAGGCACACGTGTGGTGTGTACGCAT AGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCATGC ATGTGGTGTGTGCACGTGTCATGTGTATGAGGCATGTGTAGCACTGTGAG GCACACGTGTGGTGTGTATGCATAGCACGTGTGATTGTGTGTAGTGCACG TGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGTCG TGTAGGATGCATGTGT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		805		chr16	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(243): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACCTGTGCCTCACAGTGCTACACATGCATC CTACACGACACGTGCACACACACCACACATGCATGCCTCACAGTACACCT GCACACGTGCACTACACACAATCACACATGCTATGTGTACACACCACACG TGTGCCTCTGCTACACATGCCTCATACACACGACACGTGCACACACCACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02818.hp2 others(3): Show HG02559.hp2 HG02809.hp2 HG02818.hp2 HG03130.hp1 HG03516.hp1 HG03540.hp2	a0003 a0003	a0003c0013 a0003c0036 a0003c0013 a0003c0036	a0003c0013t0002 a0003c0036t0002 a0003c0013t0002 a0003c0036t0002	a0003c0013t0002g0023 a0003c0013t0002g0098 a0003c0036t0002g0170 a0003c0013t0002g0023 a0003c0013t0002g0098 a0003c0036t0002g0170	6	456	0.0132	250	c.17 others(261): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCAGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATTGT GTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGT GTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGTGAGGCACAGGTGTG GTGTGTATGCATAGCACGTGTGATTGTGTGTAGTGCACGTGTGCAGGTGT ACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(243): Show GCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA20805.hp2 HG01167.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0044 a0001c0001t0008g0003 a0001c0001t0001g0044 a0001c0001t0008g0003	2	396	0.0051	250	c.-76 others(259): Show c.-764_-763insCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24882028	A A	ATATATAG others(243): Show ATATATAGATACATCATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCATCTATATAGATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTAGATATAT AGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATATATAATCTATATAGATACATCTATATAGATATATAAT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 NA20300.hp1 HG02055.hp1 HG02559.hp2 NA20300.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0312 a0006c0009t0002g0314 a0006c0009t0002g0315 a0006c0009t0002g0312 a0006c0009t0002g0314 a0006c0009t0002g0315	3	426	0.0070	250	c.23 others(261): Show c.2302_*2303insTATATAGATACATCATCTATATAGATATATAGAT ACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCA TCTATATAGATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAATCTATATAGATACATCT ATATAGATATATAATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2108		chr13	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(243): Show TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0221 a0001c0001t0006g0221	1	308	0.0033	250	c.-75 others(269): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	235373	C C	CGAGGCTC others(243): Show CGAGGCTCTACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGC GGAGGCTCTGCAGTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGC GGAGGCTCTGCAGTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTCGGC GGAGGCTCTGCAGTAACAAGAGGGATCCCGGGTTCAAAGCTGGGGTCGGC GGAGGCTCTGCAGTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTCGGG G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	250	c.613 others(269): Show c.613+11737_613+11738insCCCCGACCCCAGCTTTGAACCCGGGA TCCATCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGA TCCCTCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGA TCCATCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGA CCCGTCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGA CCCGTCTTGTTAGTGTAGAGCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235719	C C	CGGCCGAG others(243): Show CGGCCGAGGCTCTGCAGTAACAAGAGGGATCCAGGGTTCAAAGCTGGGGT CGGCCGAGGCTCCGCACTAACAAGACAGATCCAGGGTTCAAAGCTGGGGT CGGCCAAGGCTCTACACTAACAAGACGGATCCAGGGTTCAAAGCTGGGGT CGGCCGAGGCTCTACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGT CGGCGGAGGCTCTGCAGTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGT T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02895.hp1 NA18940.hp2 others(1): Show HG00280.hp2 HG02895.hp1 NA18940.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0012 a0001c0001 a0001c0004 a0003c0012	a0001c0001t0001 a0001c0001t0014 a0001c0004t0004 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0004t0004 a0003c0012t0005	a0001c0001t0001g0065 a0001c0001t0014g0023 a0001c0004t0004g0014 others(1): Show a0001c0001t0001g0065 a0001c0001t0014g0023 a0001c0004t0004g0014 a0003c0012t0005g0020	4	133	0.0301	250	c.613 others(269): Show c.613+11391_613+11392insAACCCCAGCTTTGAACCCGGGACCCG TCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGACCCG TCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCTTTGAACCCTGGATCCG TCTTGTTAGTGTAGAGCCTTGGCCGACCCCAGCTTTGAACCCTGGATCTG TCTTGTTAGTGCGGAGCCTCGGCCGACCCCAGCTTTGAACCCTGGATCCC TCTTGTTACTGCAGAGCCTCGGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340549	C C	CCCGGGCT others(243): Show CCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCC TCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACA CTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCA CCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCA CATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACT G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	133	0.0075	250	c.-21 others(269): Show c.-212-6616_-212-6615insCAGTGAGTGTGGATGTGGGGAGGCCT GAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGT GAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGG GGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCC GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGAGCCCGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80811602	A A	AAACCTCA others(243): Show AAACCTCACTGTACCCACGGGACACAGCCACGCCCTCTCCAACAAGGCCT CAACCTCACTGTACCCACGGGACACAGCCATGCCCTCTCCAACAAGGCCT AAACCTCACTCTACCCACAGGACATAGCCACGCCTTCTCCAACAAGGCCT AAACCTCACTCTACCCAAGGGACACAGCCACGCCCTCTCCAACAAGGCCT AAACCTCACTGTACCCACGGGACACAGCCACGCCCTCTCCAACAAGGCCT C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp1 HG01516.hp1 others(20): Show HG00099.hp1 HG01361.hp1 HG01516.hp1 HG01934.hp2 HG01978.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0011 others(14): Show a0001c0003 a0001c0007 a0001c0011 a0001c0015 a0001c0026 a0001c0027 a0001c0030 a0001c0033 a0001c0039 a0001c0044 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0051 a0001c0083 a0001c0084	a0001c0003t0001 a0001c0007t0030 a0001c0011t0024 others(17): Show a0001c0003t0001 a0001c0007t0030 a0001c0011t0024 a0001c0015t0008 a0001c0015t0046 a0001c0026t0010 a0001c0026t0043 a0001c0027t0016 a0001c0027t0096 a0001c0030t0003 a0001c0033t0023 a0001c0039t0061 a0001c0044t0045 a0001c0046t0024 a0001c0047t0012 a0001c0049t0011 a0001c0050t0007 a0001c0051t0060 a0001c0083t0028 a0001c0084t0059	a0001c0003t0001g0182 a0001c0007t0030g0018 a0001c0007t0030g0020 others(20): Show a0001c0003t0001g0182 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0011t0024g0147 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0026t0010g0045 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0033t0023g0075 a0001c0039t0061g0177 a0001c0044t0045g0080 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0049t0011g0078 a0001c0050t0007g0148 a0001c0051t0060g0116 a0001c0083t0028g0158 a0001c0084t0059g0165	23	196	0.1174	250	c.891 others(269): Show c.891-10520_891-10519insTGCCCTCTCCAACAAGGCCTAAACCT CACTCTACCCACAGGACATAGCCACGCCTTCTCCAACAAGGCCTAAACCT CACTCTACCCAAGGGACACAGCCACGCCCTCTCCAACAAGGCCTAAACCT CACTGTACCCACGGGACACAGCCACGCCCTCTCCAACAAGGCCTCAACCT CACTGTACCCACGGGACACAGCCACGCCCTCTCCAACAAGGCCTCAACCT CACTGTACCCACGGGACACAGCCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934525	G G	GCGTTACA others(243): Show GCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAG TCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	434	0.0023	250	c.843 others(267): Show c.843-1226_843-1225insTCGGCTGCGTTACAGGTGGGCGGGGGAG TCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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