Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(294): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTATACTTTTAAAAA AGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTA CTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTT TTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAA AGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAGTAC TTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTT TA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	8	0.1250	301	c.175 others(322): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTATACTTTTTAA AAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(294): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCT CC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	30	0.0333	301	c.433 others(318): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(294): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03516.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0006 a0001c0001t0001 a0003c0003t0006	a0001c0001t0001g0013 a0003c0003t0006g0049 a0001c0001t0001g0013 a0003c0003t0006g0049	3	315	0.0095	301	c.-30 others(312): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NXN_chr17_794310_984776	949313	C C	CCCCCTGC others(294): Show CCCCCTGCCTCCTCCTCTCCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGC GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGCGGCCTCCTCCTC TCCCCCGCCTCCTCCTCTCCCCGCGGCCTCTCCTCTCCCCCCCTCCTCCT CTCCCCGCGGCCCTCCCTCCTCTCCCCCCTGCCTCCCTCCTCTCCCCGCC GCCTCCTCCTCTCCCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	240	0.0042	301	c.360 others(320): Show c.360+30005_360+30006insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGGGGAGAGGAGGAGGCGGCGGGGAGAGGAGGGAGGCAGGG GGGAGAGGAGGGAGGGCCGCGGGGAGAGGAGGAGGGGGGGAGAGGAGAGG CCGCGGGGAGAGGAGGAGGCGGGGGAGAGGAGGAGGCCGCGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC CGGGGGGGAGAGGAGGAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(294): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	240	0.0042	301	c.-20 others(310): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCTCTTTCTTTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
ODF3_chr11_191761_205258	196140	T T	TGGGGGGG others(294): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTT GGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGAGGACATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACC TTGGTGAGGAGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	235	0.0043	301	c.-91 others(310): Show c.-915_-914insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGCGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGTGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGG ACCTGGTGAGGGACA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		620		chr11	TogoVar
OGDH_chr7_44601627_44714066	44628465	T T	TTTTTTTT others(294): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCA CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTAAAA AC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0141 a0001c0001t0009g0141	1	304	0.0033	301	c.222 others(318): Show c.222+3907_222+3908insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGTAAAAACTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OPCML_chr11_132409981_133537501	133424057	T T	TAATAGCA others(294): Show TAATAGCAACACACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGACTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTG CAGTGAGCCGAGATCAGGCCACTGCACTCTAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	68	0.0147	301	c.61+ others(320): Show c.61+108206_61+108207insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGAG TGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGTGTGTTGCTATT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(294): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAACCCCCCCGCCCGGCCAGCCGCCCAGTCCG GG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	59	0.0169	301	c.155 others(320): Show c.155-27627_155-27626insCCCGGACTGGGCGGCTGGCCGGGCGG GGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC CTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AGAAAGAA others(294): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	301	c.64 others(310): Show c.641_*642insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		642		chr9	TogoVar
OTOF_chr2_26452203_26483124	26476625	C C	CCCCCACC others(294): Show CCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CAGCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACA CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGT CCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCC TT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	320	0.0031	301	c.435 others(316): Show c.435+265_435+266insAAGGAGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGTGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGCTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PACS2_chr14_105309748_105403147	105349859	G G	GGAGAACT others(294): Show GGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCA GGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCGGGAGAGCGTGGCT AATAGCAGGACCCCGAGAACTTCCAGGAGTGCGTGGCTAATGCAGGACCC CGAGAACTTCCGGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAG GAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCT AATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACC CC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0180 a0002c0002t0047g0180	1	198	0.0051	301	c.207 others(318): Show c.207+1364_207+1365insGGGAGAGCGTGGCTAATAGCAGGACCCC GAGAACTTCCAGGAGTGCGTGGCTAATGCAGGACCCCGAGAACTTCCGGG AGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAA TAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCC GAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAG GAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCT AATGCAGGACCCCGAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARD3_chr10_34104561_34820296	34605762	A A	ATATATAT others(294): Show ATATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATA TATATATATATCTCCTATATATATCTCCTATATATATATATCTCCTATAT ATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATA TATATCTCCTATATATATATCTCCTATATATATATATCTCCTATATATAT ATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATATATC TCCTATATATATATATCTCCTATATATATATCTCCTATATATATATATCT CC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0077 a0001c0001t0021g0077	1	88	0.0114	301	c.223 others(320): Show c.223-88604_223-88603insGGAGATATATATATATAGGAGATATA TATATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATAT ATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATATATA TAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATATAG GAGATATATATATATAGGAGATATATATATAGGAGATATATATATATAGG AGATATATATAGGAGATATATATATATATAGGAGATATATATATATAGGA GATATATATATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PCSK6_chr15_101298933_101494707	101311747	C C	CCACCCCA others(294): Show CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC CCACCCCATCATCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	296	0.0034	301	c.269 others(320): Show c.2699+1628_2699+1629insAGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGTGTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDXP_chr22_37653723_37671932	37656829	A A	AAATTTTT others(294): Show AAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0144 a0001c0001t0012g0143 a0001c0001t0006g0144 a0001c0001t0012g0143	2	413	0.0048	301	c.-19 others(312): Show c.-1954_-1953insAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding		1893		chr22	TogoVar
PGM2_chr4_37821686_37867937	37849070	C C	CAAAAAAA others(294): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0299 a0002c0012t0002g0300 a0002c0012t0002g0299 a0002c0012t0002g0300	2	357	0.0056	301	c.141 others(318): Show c.1412+433_1412+434insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAA	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIP5K1C_chr19_3625183_3705468	3649853	A A	ACCCCGGC others(294): Show ACCCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC AC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	329	0.0030	301	c.112 others(320): Show c.1128-1146_1128-1145insGTGACAGTTAACTCCCGCGCTGGGCA GGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCA GGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGCAG GGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(294): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp1 HG01106.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0018 a0002c0003t0003g0100 a0002c0003t0003g0018 a0002c0003t0003g0100	2	245	0.0082	301	c.611 others(318): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PLCB1_chr20_8127266_8889900	8835844	C C	CAAAACTT others(294): Show CAAAACTTAGTGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01074.hp1 others(12): Show HG00438.hp1 HG00438.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01934.hp2 NA18948.hp1 NA18950.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0019 a0003c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0019 a0001c0019t0001 a0003c0015t0008	a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0099 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0099 a0001c0001t0004g0025 a0001c0001t0018g0066 a0001c0002t0004g0061 a0001c0003t0001g0034 a0001c0003t0001g0053 a0001c0003t0001g0083 a0001c0003t0002g0069 a0001c0003t0004g0091 a0001c0004t0002g0073 a0001c0004t0019g0058 a0001c0019t0001g0067 a0003c0015t0008g0002	15	105	0.1429	301	c.342 others(322): Show c.3423+45596_3423+45597insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAACTTAGTGAC	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8835844	C C	CAAAACTT others(294): Show CAAAACTTAGTGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	91	0.0110	301	c.342 others(322): Show c.3423+45596_3423+45597insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAACTTAGTGAC	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEC_chr8_143910153_143944597	143928395	A A	AGCGGCGG others(294): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAG GCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGG ACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGG TTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAG AG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0015 a0015	a0015c0073 a0015c0073	a0015c0073t0001 a0015c0073t0001	a0015c0073t0001g0043 a0015c0073t0001g0043	1	338	0.0030	301	c.326 others(318): Show c.3261-404_3261-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCT CTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAA CCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGT CCACCCGCTGTCTACTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928395	A A	AGCGGCGG others(294): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAG GCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGG ACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGG TTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAG AG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0014 a0014	a0014c0062 a0014c0062	a0014c0062t0001 a0014c0062t0001	a0014c0062t0001g0106 a0014c0062t0001g0106	1	286	0.0035	301	c.321 others(318): Show c.3219-404_3219-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCT CTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAA CCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGT CCACCCGCTGTCTACTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(294): Show GGCGCCGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGG GT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG04204.hp1 HG00323.hp2 HG04204.hp1	a0015 a0037 a0015 a0037	a0015c0019 a0037c0062 a0015c0019 a0037c0062	a0015c0019t0012 a0037c0062t0012 a0015c0019t0012 a0037c0062t0012	a0015c0019t0012g0163 a0037c0062t0012g0164 a0015c0019t0012g0163 a0037c0062t0012g0164	2	3	0.6667	301	c.45+ others(312): Show c.45+94_45+95insCGCCGGGGTAGGGGTGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG GGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLIN3_chr19_4833341_4872667	4839823	G G	GCCAGGCT others(294): Show GCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTTGACTCACTGCAAGCTCCACCTCCCAGGTTCACACCAT TCTCCTGCCTCAACCACCTGAGTAGCTGGGACTACAGGCGCCCACCACCA CA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0056 a0001c0005t0001g0056	1	427	0.0023	301	c.961 others(316): Show c.961-288_961-287insTGTGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCAGGTGGTTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTG CAGTGAGTCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGCCGGGTGTGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTC AGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCTGG	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	7/7			chr19	TogoVar
POLR2M_chr15_57701714_57722557	57702490	A A	ACAGGAAA others(294): Show ACAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0074 a0002c0003t0014g0074	1	393	0.0025	301	c.-43 others(312): Show c.-4353_-4352insCAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		4223		chr15	TogoVar
PPM1L_chr3_160751231_161083902	160827290	T T	TGAGATAC others(294): Show TGAGATACTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGC TGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACAACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	206	0.0049	301	c.399 others(320): Show c.399+70596_399+70597insTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACAACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGAGATACTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP6R2_chr22_50338327_50450090	50396152	C C	CGCCATTG others(294): Show CGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGGCTCAAAAAA AAAAAAAAAAAAAAAGCCGGGTGTGATGGCTCACACCTGTAATCCCAACA CTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAG CCTGACCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAATTAGC AGGGCGTAGTGGCGCACGCCTGTAATCTCAGCTACTCCGGGAGGCTGAAG CAGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATT GT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02280.hp2 others(7): Show HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02615.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp2 NA20129.hp2 NA20300.hp1	a0001 a0019 a0001 a0019	a0001c0002 a0001c0008 a0019c0019 a0001c0002 a0001c0008 a0019c0019	a0001c0002t0003 a0001c0008t0003 a0019c0019t0003 a0001c0002t0003 a0001c0008t0003 a0019c0019t0003	a0001c0002t0003g0293 a0001c0008t0003g0284 a0001c0008t0003g0286 others(7): Show a0001c0002t0003g0293 a0001c0008t0003g0284 a0001c0008t0003g0286 a0001c0008t0003g0287 a0001c0008t0003g0292 a0001c0008t0003g0295 a0001c0008t0003g0297 a0001c0008t0003g0299 a0001c0008t0003g0302 a0019c0019t0003g0300	10	338	0.0296	301	c.227 others(318): Show c.227+2080_227+2081insAGCCGGGTGTGATGGCTCACACCTGTAA TCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTC GAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTAATAAAAATACAA AAATTAGCAGGGCGTAGTGGCGCACGCCTGTAATCTCAGCTACTCCGGGA GGCTGAAGCAGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAG CTGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGG CTCAAAAAAAAAAAAAAAAAAAA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2121664	G G	GGTCACGG others(294): Show GGTCACGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTG GTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGG TCGTGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTGGT GGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTC GTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCATGGCGGTGGTTAGGGT CACGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTGGTTA GC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	284	0.0035	301	c.335 others(320): Show c.335-13595_335-13594insACGGTGGTGGTTAGGGTCGTGGTGGT AGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAG GGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAG TTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGG TCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCATGGCGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTGGTTAGCGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121682	G G	GGTCGTGG others(294): Show GGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTG GTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGG TCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGT AGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACG GTGGTGGTTAGGGTCATGGCGGTGGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	281	0.0036	301	c.335 others(320): Show c.335-13577_335-13576insGTGGTGGTAGTTATTTAGGGTCACGG TGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTG GTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGG TCGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCATGGCGGTGGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGCGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	301	0.0033	301	c.-44 others(312): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGG GGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	301	0.0033	301	c.-44 others(312): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGGCGGGCCGTGGGGGAGGAGGGGC GTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGG GGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG04115.hp2 HG00423.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0256 a0001c0001t0002g0003 a0001c0001t0002g0256	2	302	0.0066	301	c.-44 others(312): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGGCGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133800	C C	CCCTCCCT others(294): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	208	0.0048	301	c.23 others(312): Show c.2368_*2369insCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2088		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(294): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0090 a0001c0009t0001g0090	1	73	0.0137	301	c.23 others(312): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(294): Show GTGATGATGGTGATGGTGATAATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGGT GGTGGTGGTGATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGG TGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATG GTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03041.hp2 HG02109.hp2 HG03041.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0003c0004 a0004c0006	a0003c0004t0001 a0004c0006t0001 a0003c0004t0001 a0004c0006t0001	a0003c0004t0001g0063 a0004c0006t0001g0097 a0003c0004t0001g0063 a0004c0006t0001g0097	2	200	0.0100	301	c.-46 others(312): Show c.-4663_-4662insTGATGATGGTGATGGTGATAATGGTGATGGTGAT GATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGG TGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTG GTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGT GATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP3A_chr19_1349959_1383429	1368918	C C	CCAGCCCA others(294): Show CCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCC AAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCAT CGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCC CCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAG AT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG03540.hp1 HG01884.hp2 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0080 a0001c0001t0004g0155 a0001c0001t0004g0157	3	212	0.0142	301	c.142 others(318): Show c.1423-305_1423-304insCCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAG ACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCC CAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCA TCGGGTCCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTC CCCGGTGCCCACCTGCGTTCAGA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(294): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACC CCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTC TTGCACCCCCCTTGCCTCCTGTACCCCCCTCACCTCCTTGTGCACCCCCT CA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0254 a0001c0001t0010g0254	1	262	0.0038	301	c.139 others(320): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGT ACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCCTCACC TCCTTGTGCACCCCCTCACCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(294): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTC CTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCT CTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCT CA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	262	0.0038	301	c.139 others(320): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATC TCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTG TACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCCTCACCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(294): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	314	0.0032	301	c.269 others(316): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAATAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(294): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTG GAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCA AGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTG GCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCC ATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCC TT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	33	0.0303	301	c.67- others(316): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCAATC TTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCA GCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGCTAAT TTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCTGGTC TTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(294): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0113 a0001c0001t0014g0113	1	50	0.0200	301	c.908 others(318): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIMBP2_chr12_130391133_130721299	130392377	T T	TGTGTGCG others(294): Show TGTGTGCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCA CCGTCATCACATGTGTGCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCGGTCACCGTCATCACATGTGTGCGTCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACCGTCATCACATGTGTCCGTCAGTTACC TGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTCCG TCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02735.hp2 HG01361.hp1 HG02735.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0012c0052 a0001c0002 a0012c0052	a0001c0002t0001 a0012c0052t0001 a0001c0002t0001 a0012c0052t0001	a0001c0002t0001g0049 a0012c0052t0001g0123 a0001c0002t0001g0049 a0012c0052t0001g0123	2	176	0.0114	301	c.49 others(312): Show c.4983_*4984insGTGATGACGGTGACCGGGTCATCACAACATTCAA TATTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATCAC AACATTCAATATTCACCAGGTAACTGACGGACACATGTGATGACGGTGAC CGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGCACACATGTG ATGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGAC GCACACATGTGATGACGGTGACCGGGTCATCACAACATTCAATATTCACC AGGTAACTGACGCACAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3755		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392741	C C	CGTCAGTT others(294): Show CGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCA TCATGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCC GGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTG TGATGACCCGGTCACCGTCATCACGTGTGTCTGTCAGTTACCTGGTGAAT ATTGAATGTTGTGATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTAC CTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTGT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	168	0.0060	301	c.46 others(312): Show c.4619_*4620insAGACACACGTGATGACGGTGACCGGGTCATCACA ACATTCAATATTCACCAGGTAACTGACGGACACATGATGACGGTGACCGG GTCATCACAACATTCAATATTCACCAGGTAACTGACAGACACACGTGATG ACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGA CACGTGATGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGACGGACACACATGATGACGGTGACCGGGTCATCACAACATTCAATA TTCACCAGGTAACTGAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3391		chr12	TogoVar
RIMS2_chr8_103495610_104259430	103840433	T T	TGGTAATT others(294): Show TGGTAATTCATTTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18950.hp1 NA18963.hp2 others(1): Show NA18939.hp2 NA18950.hp1 NA18963.hp2 NA18990.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0006 a0003c0009	a0003c0006t0002 a0003c0009t0001 a0003c0009t0008 a0003c0006t0002 a0003c0009t0001 a0003c0009t0008	a0003c0006t0002g0146 a0003c0009t0001g0148 a0003c0009t0001g0149 others(1): Show a0003c0006t0002g0146 a0003c0009t0001g0148 a0003c0009t0001g0149 a0003c0009t0008g0144	4	167	0.0240	301	c.831 others(320): Show c.831-44848_831-44847insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGGGTAATTCATTTATTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103840433	T T	TGGTAATT others(294): Show TGGTAATTCATTTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0145 a0003c0006t0003g0145	1	164	0.0061	301	c.831 others(320): Show c.831-44848_831-44847insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGGGTAATTCATTTATTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(294): Show TAATATATATAAAATATATATATATAATATATATATAAAATATATATATA TAATATATATATATAAAATATATATATATAATATATATATATAAAATATA TATATATAATATATATATATAAAATATATATATAAAATATATATATAATA TATATATATAAAATATATATATAAAATATATATATATAATATATATATAA AATATATATATATATTATATATATATATAAAATATATATAAAATATATAT ATAATATATATATAAAATATATATATAATATATATATAATATATATATAT AA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	240	0.0042	301	c.67- others(314): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATTATATA TATATATTTTATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(294): Show TAATATATATATAAAATATATATATATAATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATAAAATATA TATATATAATATATATATATAAAATATATATATAAAATATATATATAATA TATATATATAAAATATATATATAAAATATATATATATAATATATATATAA AATATATATATATATTATATATATATATAAAATATATATAAAATATATAT ATAATATATATATAAAATATATATATAATATATATATAATATATATATAT AA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	240	0.0042	301	c.67- others(314): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATTATATATA TATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(294): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATTATATATATATAAAATATATATAAAATATATAT ATAATATATATATAAAATATATATATAATATATATATAATATATATATAT AA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	240	0.0042	301	c.67- others(314): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATAATATATATATATTTTATATATATATTATATATATATATTTTATATAT ATATTTTATATATATATATTATATATATATTTTATATATATATTTTATAT ATATATATTATATATATATATTTTATATATATATATTATATATATATATT TTATATATATATATTATATATATATATTTTATATATATATATTATATATA TATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNF223_chr1_1065967_1079306	1076459	G G	GTGGGGGG others(294): Show GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTG GCTGAGGCTATGGGGACACCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	316	0.0032	301	c.-24 others(312): Show c.-2454_-2453insACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGG AGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCT CCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATA GACTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGG TGTCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCT CCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTA GCCTCAGCCTCCCCCCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2154		chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213092711	T T	TCCAAGAT others(294): Show TCCAAGATATGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0272 a0004c0004t0005g0272	1	325	0.0031	301	c.263 others(320): Show c.263-11728_263-11727insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGCCAAGATATGTTTTT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results