Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TMEFF2_chr2_191944046_192199933	191975313	T T	TAAGATTT others(299): Show TAAGATTTTATTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	164	0.0061	306	c.746 others(325): Show c.746-18936_746-18935insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGA GCCACCGCGCCCGGCCGAGAATAAAATCTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	7/9			chr2	TogoVar
TMEM120A_chr7_75981831_75999595	75988776	T T	TAGGGGGG others(299): Show TAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGG TGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGGTGGAGGGGAAGGCCGG GTGGGGGGGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGG GTGGGGTGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGG CGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGG CGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGG CCGGGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	368	0.0027	306	c.378 others(321): Show c.378-261_378-260insCACCCGGCCTTCCCCTCCACACCCCCTCCC CGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCC CGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCC CGCCTTCCCCTCCACCCCCCACCCCACCCGGCCTTCCCCTCCACACACCC ACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCC CACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCC CACCCGGCCTTCTCCTCCACCCCCCT	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121747874	C C	CTGGGGTA others(299): Show CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGG GGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAG GCGGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	314	0.0032	306	c.189 others(321): Show c.189-452_189-451insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747959	A A	ACTGGGGT others(299): Show ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0001 a0002c0002t0034g0001	1	314	0.0032	306	c.189 others(321): Show c.189-354_189-353insCGGGAGTCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM135_chr11_87032934_87333824	87304461	T T	TAGAAGTG others(299): Show TAGAAGTGTGAAGAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATTGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0043 a0004c0004t0043	a0004c0004t0043g0260 a0004c0004t0043g0260	1	274	0.0037	306	c.699 others(323): Show c.699-1459_699-1458insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGT CTCAAAAAAAAAAGAAGTGTGAAGAGTG	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM242_chr6_157284025_157328519	157310690	A A	AGCCTCAT others(299): Show AGCCTCATCATAGTGCCCCAGTGTGCACTCAGCTAGCCTCATCATAGTGT CCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCAC CCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCATAGT GTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTC ACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCAACTGGCCTCATCATA GTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGCCCCAGTGTGCAC TCACCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	344	0.0058	306	c.327 others(323): Show c.327+8091_327+8092insCAGGTGAGTGCACACTGGGGCACTATGA TGAGGCTAGGTTAGCGCATACTGGGACACTATGATGAGGCCAGTTGAGTG CACACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTAT GATGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGTGAG TGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGACCCT ATGATGAGGCCGGGTGAGTGCACACTGGGACACTATGATGAGGCTAGCTG AGTGCACACTGGGGCACTATGATGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311686	G G	GTTAGCGC others(299): Show GTTAGCGCTCACCCGGCCTCATCATAGTGCCGCAGTGTGCACTCACCTGG CCTCAACATACTGTCCCAGTGTGCGGTCACCTGGCCTCATCATAGTGTCC CAGTGTCCGCTCACCGAGCATCATCATAGTGCCCCAGTGTGCGCTCACCC GGCCTCATCATAGTGCCCCACTGGGCCCTCACCCGGCCTCATGATAGTGT CCCAGTATGCACTCACATGCACAGATCATAGTGCCACAGTGTGCATTCAC CTAGCCTCATCATAGCGCCCCAGTGTGCACTCACCTAGGCTCATCATAGT GTCCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(66): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18940.hp2 NA18950.hp1 NA18955.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19077.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0003c0007t0002	a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 others(62): Show a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0011g0195 a0001c0001t0011g0205 a0001c0001t0011g0221 a0001c0001t0011g0228 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0014g0252 a0001c0001t0019g0254 a0001c0001t0019g0259 a0001c0001t0032g0242 a0001c0001t0035g0233 a0001c0001t0036g0190 a0003c0007t0002g0327	69	344	0.2006	306	c.327 others(323): Show c.327+7095_327+7096insGTGGGACACTATGATGAGCCTAGGTGAG TGCACACTGGGGCGCTATGATGAGGCTAGGTGAATGCACACTGTGGCACT ATGATCTGTGCATGTGAGTGCATACTGGGACACTATCATGAGGCCGGGTG AGGGCCCAGTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGGCA CTATGATGATGCTCGGTGAGCGGACACTGGGACACTATGATGAGGCCAGG TGACCGCACACTGGGACAGTATGTTGAGGCCAGGTGAGTGCACACTGCGG CACTATGATGAGGCCGGGTGAGCGCTAA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312816	A A	AGCCTCAA others(299): Show AGCCTCAACATAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGC CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGCACTCAC CTGGCCTCATCATAGGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGT GTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTC CCCTGGCCTCATCATAGTGCCCCAGTGAGCGCGCACCCAGCCTCATCATA GTGCCGCAGTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCAC TCACCCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0313	1	344	0.0029	306	c.327 others(323): Show c.327+5965_327+5966insCGGGTGAGTGCACACTGGGACACTATGT TGAAGTCACGTGAGCGCACACTGCGGCACTATGATGAGGCTGGGTGCGCG CTCACTGGGGCACTATGATGAGGCCAGGGGAGCGCATTCTGGGGCACTAT GATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCAGGTGAG CAGACACTGGGATCCTATGATGAGGCCAGGTGAGTGCACACTGGGGCACT ATGATGAGGCTTGGTGAGTGCACACTGGGGCACTATAATGAGGCCAGGTC AACGCACACTGGGGCACTATGTTGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312816	A A	AGCCTCAA others(299): Show AGCCTCAACATAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGC CCCAGTGTGCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGCACTCAC CTGGCCTCATCATAGGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGT GTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTC CCCTGGCCTCATCATAGTGCCCCAGTGAGCGCGCACCCGGCCTCATCATA GTGCCGCAGTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCAC TCACCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 NA21309.hp2 HG00323.hp1 HG01074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0162 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0162	3	344	0.0087	306	c.327 others(323): Show c.327+5965_327+5966insCGGGTGAGTGCACACTGGGACACTATGT TGAAGTCACGTGAGCGCACACTGCGGCACTATGATGAGGCCGGGTGCGCG CTCACTGGGGCACTATGATGAGGCCAGGGGAGCGCATTCTGGGGCACTAT GATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCAGGTGAG CAGACACTGGGATCCTATGATGAGGCCAGGTGAGTGCACACTGGGGCACT ATGATGAGGCTTGGTGAGTGCACACTGGGGCACTATAATGAGGCCAGGTC AACGCACACTGGGGCACTATGTTGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312936	C C	CAGTGTGC others(299): Show CAGTGTGCACTCACCAGGCCTAATCATAATGCCCCAGTGTACACTCACCT AGCCTCATCATAGTGTCCCAGTGTGCGCTTACCTTACCTCATAATAGTGT CCCAGTGTGCGCTCACCTGGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCTCATCACACTGCCCCAGTGTGCGCTCACCTAACCTCATCATAGT GTCCCATTGTGCGTTCACCTAGCCTCATCAGAGTGTCCCAGTGTGTGCTC ACCCAGCCTCATCATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATA CTGACCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG03098.hp2 others(2): Show HG02145.hp1 HG02895.hp2 HG03098.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0132	5	344	0.0145	306	c.327 others(323): Show c.327+5845_327+5846insTGGTCAGTATAATGAGGCCAGGTGAGTG TACACTGGGGCACTATGATGAGGCTGGGTGAGCACACACTGGGACACTCT GATGAGGCTAGGTGAACGCACAATGGGACACTATGATGAGGTTAGGTGAG CGCACACTGGGGCAGTGTGATGAGGCTAGGTGAGCGCACACTGGGGCACT ATGATGAGGCCAGGTGAGCGCACACTGGGACACTATTATGAGGTAAGGTA AGCGCACACTGGGACACTATGATGAGGCTAGGTGAGTGTACACTGGGGCA TTATGATTAGGCCTGGTGAGTGCACACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113816252	G G	GGGGAGAC others(299): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCATGTTCTAAG CGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGTTT CTTTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0107 a0001c0002t0055g0107	1	260	0.0039	306	c.43 others(317): Show c.4354_*4355insACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAG AGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGT GTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACA CGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGG AGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGC ATGTTCTAAGCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGG GACATGGTTTCTTTTCAGGGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4355	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM65_chr8_124301189_124377701	124302651	T T	TTATATAT others(299): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTATATATTTATATATAAATATATATTCTTTTATATATTTATATATACAT ATATATTCTTTTATATATTTATATATACATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATAAATATATATTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATATATTTATATATAAATATATATTCTT TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	348	0.0029	306	c.11 others(319): Show c.11308_*11309insTATATAAAAGAATATATATTTATATATAAATA TATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAA TATATATTTATATATAAATATATAAAAGAATATATATTTATATATAAATA TATAAAAGAATATATATTTATATATAAATATATAAAAGAATATATATGTA TATATAAATATATAAAAGAATATATATGTATATATAAATATATAAAAGAA TATATATTTATATATAAATATATAAGAATATATATTTATATATAAATATA TAAAAGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3537		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(299): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATATATTTATATATATAT TCTTTTATATATATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATAT TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA19070.hp2 NA19072.hp1 NA18948.hp2 NA19070.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0265 a0001c0001t0020g0266 a0001c0001t0020g0267 a0001c0001t0020g0265 a0001c0001t0020g0266 a0001c0001t0020g0267	3	348	0.0086	306	c.11 others(319): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATATAAATATATATATAAA TATATAAAAGAATATATATTTATATATAAATATATAAAAATATATATTTA TATATAAATATATAAAAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATGTATATATAAATATA TAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TNK2_chr3_195858364_195913551	195881139	G G	GTGCCCCT others(299): Show GTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCAGCA ATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACACCCGCCCCCAG CGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACACCACCCGCC AGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAACACCCCCCC AGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCC AGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCGCCC CCAGCGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	372	0.0027	306	c.887 others(321): Show c.887+606_887+911dupTCGCTGGGGGCGGGTGTTACAGGGATAGAT GCTGTGTCCTCTCCAAGGGGCACTGCTGGGGGGGTGTTACAGGGATAGAT GCTGTGTCCTCTCCAAGGGGCACTGCTGGGGGGGTGTTAGAGGGACAGAT CCTGTGTCCTCTTCAAGGGGCATTGCTGGCGGGTGGTGTTAGAGGGATAG ACACTGTGTCCTCTCCAAGGGGCATCGCTGGGGGCGGGTGTTACAGGGAT AGACGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGAT AGATGCTGTGTCCTCTCCAAGGGGCA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TOMM7_chr7_22807974_22827849	22813865	G G	GTAGCCCA others(299): Show GTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	420	0.0024	306	c.153 others(321): Show c.153-681_153-680insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGGGCTA	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(299): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	258	0.0039	306	c.379 others(325): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(299): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0112 a0002c0024t0001g0112	1	258	0.0039	306	c.379 others(325): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(299): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(88): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18986.hp2 NA18991.hp2 NA19002.hp1 NA19057.hp2 NA19065.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(5): Show a0001 a0006 a0007 a0008 a0011 a0012 a0013 a0019	a0001c0001 a0001c0015 a0001c0017 others(7): Show a0001c0001 a0001c0015 a0001c0017 a0006c0010 a0007c0009 a0008c0011 a0011c0027 a0012c0018 a0013c0014 a0019c0013	a0001c0001t0001 a0001c0015t0001 a0001c0017t0001 others(7): Show a0001c0001t0001 a0001c0015t0001 a0001c0017t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0001 a0011c0027t0001 a0012c0018t0001 a0013c0014t0001 a0019c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0015t0001g0103 a0001c0017t0001g0093 a0006c0010t0001g0051 a0007c0009t0001g0082 a0008c0011t0001g0002 a0011c0027t0001g0061 a0012c0018t0001g0076 a0013c0014t0001g0019 a0019c0013t0001g0008	91	258	0.3527	306	c.379 others(325): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(299): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01515.hp2 others(1): Show HG01074.hp1 HG01099.hp2 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	4	258	0.0155	306	c.379 others(325): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPCN2_chr11_69043932_69095597	69069078	C C	CACGGGGA others(299): Show CACGGGGAGCAGGACTATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCA GGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGA GTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAG TGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTG GGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACC GTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTCTCTGAGTCCT AGGAAGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0033 a0004c0006t0033	a0004c0006t0033g0207 a0004c0006t0033g0207	1	404	0.0025	306	c.830 others(323): Show c.830-1352_830-1351insACGGGGAGCAGGACTATCTGAGTCCTAG GAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGC AGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAG GACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAG TCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGT GACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGG GAGCAGGACTCTCTGAGTCCTAGGAAGT	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24			chr11	TogoVar
TPO_chr2_1408463_1548673	1531888	C C	CCCGGTGT others(299): Show CCCGGTGTGCAACCTGCTCAAATCCCCCCACTGTGTGCAACCTCCTCAAA TCTCTCAACTGTGTGCAACCTCCTCAAATCCCCCCTTCTGTGCAACTTCC CCAAATTCCAACTGTGTACAACCTCCTCAAATCCCTCCCACTCTTTGCAA ACTCCCCAAATCGCCCCACTCTGTGCAACCGCCCCAAATCTACCCCAGTC TGTGAAACCTCCCCAAATCCACCCCACTGTGTGCAACCTCACCACATCCA CCACTGTGTGCAACCTCCCCAAATCCCCCCTACCTTGTGCAACCTCCCCA AATCCCA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0072 a0004c0007t0004g0072	1	130	0.0077	306	c.261 others(325): Show c.2619-8704_2619-8703insGGTGTGCAACCTGCTCAAATCCCCCC ACTGTGTGCAACCTCCTCAAATCTCTCAACTGTGTGCAACCTCCTCAAAT CCCCCCTTCTGTGCAACTTCCCCAAATTCCAACTGTGTACAACCTCCTCA AATCCCTCCCACTCTTTGCAAACTCCCCAAATCGCCCCACTCTGTGCAAC CGCCCCAAATCTACCCCAGTCTGTGAAACCTCCCCAAATCCACCCCACTG TGTGCAACCTCACCACATCCACCACTGTGTGCAACCTCCCCAAATCCCCC CTACCTTGTGCAACCTCCCCAAATCCCACC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537060	C C	CCCCCCAC others(299): Show CCCCCCACTGTGTGCAACCTCCCCAAATCCGCCCCAATCTGTGCAACCTC CCACTCTACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTG CAACCCCCCAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTG TGTGAAACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCCCCAATTCCC CACCACTGTGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCC AAACCCCCCACAGTTTGAAACCTCCCCAAATCCCTGCCACTGTGTGCAAC TTCAATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00733.hp2 others(3): Show HG00408.hp1 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG02015.hp1 HG04184.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0010	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0006c0013 a0010c0010	a0001c0001t0007 a0001c0001t0010 a0002c0002t0007 others(3): Show a0001c0001t0007 a0001c0001t0010 a0002c0002t0007 a0004c0005t0007 a0006c0013t0007 a0010c0010t0007	a0001c0001t0007g0013 a0001c0001t0010g0054 a0002c0002t0007g0121 others(3): Show a0001c0001t0007g0013 a0001c0001t0010g0054 a0002c0002t0007g0121 a0004c0005t0007g0076 a0006c0013t0007g0122 a0010c0010t0007g0081	6	130	0.0462	306	c.261 others(325): Show c.2619-3532_2619-3531insCCCACTGTGTGCAACCTCCCCAAATC CGCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCCC CCAAAATCCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGC ATCCTCCTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTG TGTGCAACCTCCCCAATTCCCCACCACTGTGTGCAACCTCCTCAAATCCC CCCACTGTGTGCAACCACCCCAAACCCCCCACAGTTTGAAACCTCCCCAA ATCCCTGCCACTGTGTGCAACTTCAATTCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507665	G G	GTATATAC others(299): Show GTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGT GTACACATGTATATACGTATACATGTGTACACATGTATATACGTATACAT GTGTACACATGTATATACGTATACATGTGTACACATGTATGTATGTGTAT ATATGTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	388	0.0026	306	c.-23 others(323): Show c.-23+2382_-23+2383insTACATATATACACATACATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	140157126	T T	TTTTCCAT others(299): Show TTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCAT TCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCC TCCCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCA TTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGC CTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTC CATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAA GCCTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0025 a0001c0025t0006g0025	1	98	0.0102	306	c.255 others(327): Show c.2556+64332_2556+64333insGGGAGGCTTCTGAATGGAAAGGGA GGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGA ATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGG GAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCT GAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTTTGAATGGAAAA GGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTT TTGAATGGAAAAGGGAGGCTTTTGAATGGAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(299): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03688.hp2 HG01952.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0028 a0001c0007t0001g0045 a0001c0002t0001g0028 a0001c0007t0001g0045	2	198	0.0101	306	c.204 others(327): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(299): Show TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATACATACATATACACG CGTGCGTATACATACATATACACGCGTGCGTATACACATATACACGCGTG CGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	334	0.0030	306	c.-48 others(317): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTGTATACGCACGC GTGTATATGTATGTATACGCACGCGTGTATATGTATGTATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(299): Show CATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATACATACATATACACGCGTGCGTATACACATATACACGCGTGCGTA TACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	334	0.0030	306	c.-48 others(317): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATGTGTATACGC ACGCGTGTATATGTATGTATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TSPAN15_chr10_69446465_69512666	69486618	T T	TTCAGCAG others(299): Show TTCAGCAGTTGCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0272 a0003c0004t0007g0272	1	340	0.0029	306	c.357 others(323): Show c.357+1418_357+1419insTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTCAGCAGTTGCTCTT	TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
TTF2_chr1_117055326_117112453	117095586	T T	TAAAAGTA others(299): Show TAAAAGTAGAGAAGCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0151 a0001c0003t0011g0151	1	328	0.0031	306	c.303 others(323): Show c.3035+233_3035+234insTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGTAGAGAAGC	TTF2	ENSG00000116830.12	transcript	ENST00000369466.9	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBB2B_chr6_3219277_3232653	3222096	C C	CACCACTA others(299): Show CACCACTACCACTACCACCATCATAATTACCACCACCATCACCACCACCA CCACCACTATCACCATCATCACCACCACCACCACCACCACTAGCACAACC ACAACACTACCACATCACCACCACCACTACCACTACTACCATCACCATCA CCACCACCATCACCACCACCACCACAATACTACCACATCACCACCACGAT CACCATCATCACCACCACCACCACCACTAGCACAACCACAACACTACCAC ATCACCACCACCACTACCACCACCACCATCACCACCACTACCACCACAAT CACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	360	0.0028	306	c.26 others(317): Show c.2654_*2655insAGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTG GTGGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGG TGGTGGTGGTGGTGATGATGGTGATCGTGGTGGTGATGTGGTAGTATTGT GGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGG TGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGT GGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTA TGATGGTGGTAGTGGTAGTGGT	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2180		chr6	TogoVar
TUBB6_chr18_12303241_12331616	12312311	T T	TAAAAAAT others(299): Show TAAAAAATATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	402	0.0025	306	c.277 others(323): Show c.277+1268_277+1269insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAATATA	TUBB6	ENSG00000176014.13	transcript	ENST00000317702.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
TWIST2_chr2_238843085_238915534	238870189	A A	ACCCCATA others(299): Show ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA TACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	338	0.0030	306	c.35 others(325): Show c.35+21457_*35+21458insCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870850	C C	CCCCACAC others(299): Show CCCCACACACACCACACACCCCACACACACCACACACCCCCCACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCACACACACACCCCATACACACCACACACACCACACACACCACAC ACCCCACACACACCACACCCCACACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACCCCCCACACACCAC ACCCCAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	338	0.0030	306	c.35 others(325): Show c.35+22117_*35+22118insCCCACACACACCACACACCCCACACA CACCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACACCCCACACACACACCCCATACACAC CACACACACCACACACACCACACACCCCACACACACCACACCCCACACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACCCCCCACACACCACACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATACACA others(299): Show TATACACACAAGTGTGTATATACGTATACACACACATATGTGTGTGTATA CGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	320	0.0031	306	c.-38 others(317): Show c.-3848_-3847insATACACACAAGTGTGTATATACGTATACACACAC ATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(299): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	320	0.0031	306	c.-38 others(317): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(299): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG00741.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0149 a0001c0001t0001g0154	2	320	0.0063	306	c.-38 others(317): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBR4_chr1_19069510_19215266	19118592	T T	TTTAAATT others(299): Show TTTAAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC TGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0015 a0015	a0015c0049 a0015c0049	a0015c0049t0002 a0015c0049t0002	a0015c0049t0002g0004 a0015c0049t0002g0004	1	326	0.0031	306	c.105 others(325): Show c.10541+279_10541+280insGGCCGGGCGCGGTGGCTCACGCCTAT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATTTAA	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	71/105			chr1	TogoVar
UCN3_chr10_5359966_5379692	5369999	G G	GTGTGTAT others(299): Show GTGTGTATATGTGTGTGTATATGTGTATGTGTGTGTATATGTGTGTGTAT GTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGT GTGTATATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGCGT GTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTAT ATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGT GTGTATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0061 a0001c0007t0002g0060 a0001c0002t0002g0061 a0001c0007t0002g0060	2	468	0.0043	306	c.-6- others(321): Show c.-6-3711_-6-3710insATATGTGTGTGTATATGTGTATGTGTGTGT ATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATATGC GTGTGTATATGCGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGT GTATATGTGTGTGTATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGT ATATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATAT GTGTGTGTATGTGTGTGTATATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370155	G G	GCGTCTGT others(299): Show GCGTCTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATATGT GTGTATATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGT GTATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATGTGTGTGT ATATGTGTGTGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGT GTGTATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	468	0.0021	306	c.-6- others(321): Show c.-6-3560_-6-3559insCGTCTGTATATGCGTGTGTATATGCGTGTG TATGTGTGTGTATATATGTGTGTATATATGTGTGTGTATATGTGTGTGTA TATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATG CGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGCGTGTGTATG TGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTG TGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTG TATGTGCGTGTGTATGTGTGTGTATA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370778	C C	CGTGTATA others(299): Show CGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGCGTGTG TATATGTGTGTGTATGTGTGTATGTGTGTGTATATGCGTGTGTATATGTG TGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATG TGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTA TATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTGTATA TGCGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTG TGTATGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0398 a0001c0002t0005g0398	1	468	0.0021	306	c.-6- others(321): Show c.-6-2933_-6-2932insATATGTGTGTGTATATGTGTGTGTGTATGT GTGTGTATGCGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATAT GCGTGTGTATATGTGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTGTATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATATGTGTGTGT ATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370778	C C	CGTGTATA others(299): Show CGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGCGTGTG TATATGTGTGTGTATGTGTGTATGTGTGTGTATATGCGTGTGTATATGTG TGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATG TGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTA TATGCGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATA TGCGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTG TGTATGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG02155.hp2 others(1): Show HG00609.hp1 HG00621.hp1 HG02155.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0005 a0001c0003t0005 a0001c0002t0002 a0001c0002t0005 a0001c0003t0005	a0001c0002t0002g0394 a0001c0002t0005g0396 a0001c0002t0005g0397 others(1): Show a0001c0002t0002g0394 a0001c0002t0005g0396 a0001c0002t0005g0397 a0001c0003t0005g0395	4	468	0.0086	306	c.-6- others(321): Show c.-6-2933_-6-2932insATATGTGTGTGTATATGTGTGTGTGTATGT GTGTGTATGCGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATAT GCGTGTGTATATGTGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTGTATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGT ATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370778	C C	CGTGTATA others(299): Show CGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGCGTGTG TATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATG TGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATG TGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTA TATGCGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATA TGCGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTG TGTATGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18954.hp2 HG00438.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0391 a0001c0002t0005g0385 a0001c0002t0002g0391 a0001c0002t0005g0385	2	468	0.0043	306	c.-6- others(321): Show c.-6-2933_-6-2932insATATGTGTGTGTATATGTGTGTGTGTATGT GTGTGTATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTGTATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGT ATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UHRF1_chr19_4904501_4967154	4940566	T T	TATGTTGG others(299): Show TATGTTGGCCATGCTAGTCTCGAAGTCCTGACCCTCGTGATCCACCCACC TTGGCCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACGGTGCCCAACT TGATTTATTTATATATTTTTTTGATGAGATGGAGTCTCACTCTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTTCAGCGTCTGCCTCCT GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAG GTGCGCGCTACCATGCCCAGCTAATTTTTGCATTTTTAGTAGAGACGGGG TTTTACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG03471.hp1 others(4): Show HG02109.hp2 HG02451.hp1 HG03471.hp1 HG03579.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0031 a0001c0005 a0001c0009 a0001c0031	a0001c0005t0001 a0001c0005t0015 a0001c0009t0006 others(2): Show a0001c0005t0001 a0001c0005t0015 a0001c0009t0006 a0001c0009t0016 a0001c0031t0009	a0001c0005t0001g0156 a0001c0005t0015g0265 a0001c0009t0006g0187 others(4): Show a0001c0005t0001g0156 a0001c0005t0015g0265 a0001c0009t0006g0187 a0001c0009t0006g0203 a0001c0009t0006g0258 a0001c0009t0016g0208 a0001c0031t0009g0256	7	316	0.0222	306	c.786 others(321): Show c.786-667_786-666insGGGGTTTTACCATGTTGGCCATGCTAGTCT CGAAGTCCTGACCCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG AATTACAGATGTGAGCCACGGTGCCCAACTTGATTTATTTATATATTTTT TTGATGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCAC GATCTTGGCTCACTTCAGCGTCTGCCTCCTGGGTTCAAGCAATTCTCCTG CCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCGCGCTACCATGCCCAG CTAATTTTTGCATTTTTAGTAGAGAC	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UMODL1_chr21_42066317_42147996	42100704	T T	TCCCTCCC others(299): Show TCCCTCCCCACCCCAGCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAG CAACCCCATGCCCTCCTCACCCTCCCCACCCCACCAACCCCGTGCCCTCC TCACCCTCCCCACCCCAGCAACCCCGTGCCCTCCTCACCCTCCCCACCCC AGCAACCCCATGCCCTCCTCACCCTCCCCACCCCACCAACCCCGTGCCCT CCTCACCCTCCCCACCCCAGCAACCCCGTGCCCTCCTCACCCTCCCCACC CCAGCAACCCCATGCCCTCCTCACCCTCCCCACCCCACCAACCCCGTGCC CTCCTCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0056 a0056	a0056c0205 a0056c0205	a0056c0205t0001 a0056c0205t0001	a0056c0205t0001g0261 a0056c0205t0001g0261	1	400	0.0025	306	c.118 others(325): Show c.1187-1373_1187-1372insCGTGCCCTCCTCACCCTCCCCACCCC AGCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAGCAACCCCATGCCCT CCTCACCCTCCCCACCCCACCAACCCCGTGCCCTCCTCACCCTCCCCACC CCAGCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAGCAACCCCATGCC CTCCTCACCCTCCCCACCCCACCAACCCCGTGCCCTCCTCACCCTCCCCA CCCCAGCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAGCAACCCCATG CCCTCCTCACCCTCCCCACCCCACCAACCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(299): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATAGTATATA TGTAATATATATACTATATATAGTATATATGTAATATATATACTATATAT AGTATATATGTAATATATATATACTATATATAGTATATATGTAATATATA TACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAA TATATATACTATATATAGTATATATGTAATATATATACTATATATAGTAT ATATGTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp2 HG00738.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0073 a0001c0001t0001g0071 a0001c0001t0002g0073	2	188	0.0106	306	c.458 others(325): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAA TATATATACTATATATAGTATATATGTAATATATATATACTATATATAGT ATATATGTAATATATATACTATATATAGTATATATGTAATATATACTATA TATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATAT ATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169595	T T	TCCTCCCT others(299): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCTCCT CTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0018 a0005c0006t0001g0018	1	115	0.0087	306	c.43 others(315): Show c.436_*437insGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		348		chrX	TogoVar
VCX_chrX_7838171_7849143	7844510	A A	AGGTGTGT others(299): Show AGGTGTGTGAGGAGGGAGGAGGAACAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG AATAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0002 a0002c0006t0003g0002	1	341	0.0029	306	c.49 others(315): Show c.494_*495insGGTGTGTGAGGAGGGAGGAGGAACAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGAATAGGT	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		368		chrX	TogoVar
VPS35L_chr16_19550703_19706163	19656338	T T	TAAAAGAA others(299): Show TAAAAGAAGAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02615.hp2 others(4): Show HG02109.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp2 HG02818.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0002g0079	7	284	0.0247	306	c.222 others(325): Show c.2221+4259_2221+4260insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAAGAAC	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(299): Show ACAGGACTCATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	382	0.0026	306	c.143 others(321): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(299): Show ACAGGACTCATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01258.hp2 others(58): Show HG00544.hp2 HG00673.hp2 HG01258.hp2 HG01496.hp1 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18994.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp2 NA19054.hp2 NA19065.hp1 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0272 a0001c0001t0001g0335 a0001c0001t0001g0365 others(58): Show a0001c0001t0001g0272 a0001c0001t0001g0335 a0001c0001t0001g0365 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0358 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0364 a0001c0001t0011g0307	61	382	0.1597	306	c.143 others(321): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar

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Search Results (Total: 10000 hits)