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
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(301): Show TTTTTTTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01517.hp2 others(10): Show HG01069.hp2 HG01071.hp1 HG01517.hp2 HG02055.hp1 HG02602.hp2 HG02647.hp2 HG02922.hp2 HG02976.hp2 HG03540.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0010 a0012	a0000c0019 a0000c0057 a0001c0005 others(3): Show a0000c0019 a0000c0057 a0001c0005 a0002c0004 a0010c0034 a0012c0018	a0000c0019t0006 a0000c0057t0011 a0001c0005t0006 others(4): Show a0000c0019t0006 a0000c0057t0011 a0001c0005t0006 a0001c0005t0011 a0002c0004t0031 a0010c0034t0006 a0012c0018t0011	a0000c0019t0006g0127 a0000c0057t0011g0066 a0001c0005t0006g0049 others(10): Show a0000c0019t0006g0127 a0000c0057t0011g0066 a0001c0005t0006g0049 a0001c0005t0006g0096 a0001c0005t0006g0099 a0001c0005t0006g0266 a0001c0005t0006g0268 a0001c0005t0006g0295 a0001c0005t0011g0125 a0002c0004t0031g0128 a0010c0034t0006g0100 a0012c0018t0011g0063 a0012c0018t0011g0064	13	348	0.0374	308	c.170 others(325): Show c.1702-589_1702-588insTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO8_chr4_174231658_174288667	174273323	T T	TAAAAAAA others(301): Show TAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAGTTAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG01257.hp2 others(14): Show HG00639.hp1 HG01167.hp1 HG01257.hp2 HG01433.hp2 HG01952.hp2 HG02622.hp2 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG03239.hp1 HG03471.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp2 NA18982.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0004 a0004c0006t0003 a0001c0001t0003 a0001c0001t0004 a0004c0006t0003	a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0003g0070 others(9): Show a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0073 a0004c0006t0003g0065	17	376	0.0452	308	c.-9+ others(325): Show c.-9+10086_-9+10087insTTTTAACTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTTTTTTTT	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FHIT_chr3_59742277_61256452	60860339	G G	GATACATC others(301): Show GATACATCATATGTATACATGAGATACATCATATGTATACATGAGATACA TCATATGTATACATGAGATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGACATACATCATATGTATACATGACATACATC ATATGTATACATGACATACATCATATGTATACATGACATACATCATATGT ATACATGAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	46	0.0217	308	c.-11 others(329): Show c.-110-38329_-110-38328insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGT ATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCA TGTATACATATGATGTATCTCATGTATACATATGATGTATCTCATGTATA CATATGATGTATCTCATGTATACATATGATGTAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(301): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0266	1	370	0.0027	308	c.189 others(327): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(301): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18959.hp2 NA18974.hp2 others(2): Show HG02602.hp1 NA18959.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0261 a0001c0001t0004g0269 others(2): Show a0001c0001t0004g0244 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0272	5	420	0.0119	308	c.702 others(325): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAAT AGATAATAGATTATCTATCTAAATAGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIRRM_chr1_169790040_169859080	169811813	C C	CAGTTTAT others(301): Show CAGTTTATCTAAATAGATAATAGACAGATTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 NA18944.hp2 others(1): Show HG02015.hp1 HG02080.hp2 NA18944.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 others(1): Show a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280	4	420	0.0095	308	c.702 others(325): Show c.702+3886_702+3887insTTTATCTAAATAGATAATAGACAGATTA TCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATC TAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTA AATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAA TAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAATA GATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGA TAATAGATTATCTATCTAAATAGATAATAG	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN1_chr15_32760544_33199714	32778027	T T	TTATATTA others(301): Show TTATATTATGTATAATATATAATACATTTATTATGTATAATATATAATAC ATTTATTATATATTATGTATAATATATAATACATTTATTATATATTATGT ATAATATATAATACATTTATTATATATTATGTATAATATATAATACATGT ATTATATATTATGTATAATATATAATACATTTATTATATATTATGTATAA TATATAATACATGTATTATATATTATGTATAATATATAATACATGTATTA TATATTATGTATAATATATAATACATGTATTATATATTATGTATAATATA TAATACATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0094 a0003c0004t0001g0094	1	196	0.0051	308	c.413 others(327): Show c.4131-1109_4131-1108insCATGTATTATATATTATACATAATAT ATAATACATGTATTATATATTATACATAATATATAATACATGTATTATAT ATTATACATAATATATAATACATGTATTATATATTATACATAATATATAA TAAATGTATTATATATTATACATAATATATAATACATGTATTATATATTA TACATAATATATAATAAATGTATTATATATTATACATAATATATAATAAA TGTATTATATATTATACATAATATATAATAAATGTATTATATATTATACA TAATAAATGTATTATATATTATACATAATATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FRRS1L_chr9_109125293_109172249	109149979	A A	AGAGGCAC others(301): Show AGAGGCACAATTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(51): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG02056.hp2 HG02080.hp1 HG02300.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp2 NA19007.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0064 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(24): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0012g0228 a0001c0001t0064g0222 a0001c0001t0065g0232 a0001c0001t0068g0149	54	430	0.1256	308	c.239 others(323): Show c.239-260_239-259insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAGAAATTGTGCCTC	FRRS1L	ENSG00000260230.5	transcript	ENST00000561981.5	protein_coding	1/4			chr9	TogoVar
GALK2_chr15_49165247_49336882	49317392	T T	TAAAAAGT others(301): Show TAAAAAGTCAGGAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0128 a0001c0002t0019g0128	1	348	0.0029	308	c.968 others(325): Show c.968-2197_968-2196insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGTCAGGAAGC	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132262830	C C	CGGGAGCC others(301): Show CGGGAGCCATAGCTCATCTGTCTGCACCTGCAGGAGACACGGTTTGGGGT GCGGTCAGGGCGCAGCATGAGGGACCCCGGGAGCCATAGCTCATCTGTCT GCACCTGCAGGAGACACGGTTTGGGGTGCGGTCAGGGCGCAGCATGAGGG ACCCCGGGAGCCATAGCTCATCTGTCTGCACCTGCAGGAGACACGGTTTG GGGTGTGGTCAGGGCGCAGCGTGAGGGACCCCGGGAGCCATAGCTCATCT GTCTGCACCTGCAGGAGACACGGTTTGGGGTGTGGTCAGGGCGCAGCGTG AGGGACCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02723.hp2 HG02055.hp1 HG02109.hp2 HG02723.hp2	a0001 a0001	a0001c0017 a0001c0019 a0001c0017 a0001c0019	a0001c0017t0001 a0001c0019t0003 a0001c0017t0001 a0001c0019t0003	a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	3	183	0.0164	308	c.420 others(323): Show c.420-206_420-205insAGGGTCCCTCACGCTGCGCCCTGACCACAC CCCAAACCGTGTCTCCTGCAGGTGCAGACAGATGAGCTATGGCTCCCGGG GTCCCTCACGCTGCGCCCTGACCACACCCCAAACCGTGTCTCCTGCAGGT GCAGACAGATGAGCTATGGCTCCCGGGGTCCCTCATGCTGCGCCCTGACC GCACCCCAAACCGTGTCTCCTGCAGGTGCAGACAGATGAGCTATGGCTCC CGGGGTCCCTCATGCTGCGCCCTGACCGCACCCCAAACCGTGTCTCCTGC AGGTGCAGACAGATGAGCTATGGCTCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(301): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02055.hp2 NA19009.hp1 others(2): Show HG01433.hp2 HG02055.hp2 NA19009.hp1 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0002g0001 a0001c0001t0003g0001	5	424	0.0118	308	c.-32 others(319): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GFOD1_chr6_13352830_13492600	13434241	G G	GCACAGAA others(301): Show GCACAGAAGTCAAGTGCAGGGCCTTATGGGAACACAGAAGTCAAGTGCAG GGCTTTATGGGAACACAGAAATCAAGTGCAGGGCATTATGGGAATATAGA GGTCAAGTTCAGGGCATTATGGGAACACAGGAATCAAGTGCATGGCATTA TGAGAACACAAATCAAGTGCAGAGCATTATGGAAGCACAGAAGTCAAGTG CAGGGCCTTATGGGAACACAGAAGTCAAGTGCAGGGCTTTATGGGAACAC AGAAATCAAGTGCAGGGCATTATGGGAACACAGAAGTCAAGTGCAGGGCA TTATGGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(84): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02257.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19062.hp2 NA19064.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0114 a0001c0001t0121 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0142 a0001c0001t0143 a0001c0005t0013	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 others(84): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0003g0204 a0001c0001t0005g0093 a0001c0001t0005g0123 a0001c0001t0005g0130 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0107 a0001c0001t0009g0186 a0001c0001t0014g0075 a0001c0001t0014g0084 a0001c0001t0018g0017 a0001c0001t0018g0031 a0001c0001t0020g0083 a0001c0001t0023g0047 a0001c0001t0023g0136 a0001c0001t0026g0169 a0001c0001t0026g0181 a0001c0001t0027g0182 a0001c0001t0027g0185 a0001c0001t0029g0203 a0001c0001t0029g0213 a0001c0001t0030g0215 a0001c0001t0031g0001 a0001c0001t0038g0009 a0001c0001t0065g0058 a0001c0001t0066g0046 a0001c0001t0068g0118 a0001c0001t0070g0150 a0001c0001t0071g0119 a0001c0001t0072g0135 a0001c0001t0073g0056 a0001c0001t0074g0131 a0001c0001t0075g0164 a0001c0001t0076g0149 a0001c0001t0077g0086 a0001c0001t0078g0097 a0001c0001t0079g0045 a0001c0001t0080g0071 a0001c0001t0086g0044 a0001c0001t0091g0092 a0001c0001t0093g0087 a0001c0001t0094g0129 a0001c0001t0095g0124 a0001c0001t0096g0050 a0001c0001t0099g0125 a0001c0001t0100g0116 a0001c0001t0101g0117 a0001c0001t0102g0090 a0001c0001t0103g0153 a0001c0001t0105g0091 a0001c0001t0110g0178 a0001c0001t0111g0193 a0001c0001t0112g0172 a0001c0001t0114g0183 a0001c0001t0121g0171 a0001c0001t0124g0184 a0001c0001t0125g0198 a0001c0001t0126g0180 a0001c0001t0142g0229 a0001c0001t0143g0230 a0001c0005t0013g0134	87	230	0.3783	308	c.253 others(327): Show c.253+52089_253+52396dupTTCCCATAATGCCCTGCACTTGACTT CTGTGTTCCCATAATGCCCTGCACTTGATTTCTGTGTTCCCATAAAGCCC TGCACTTGACTTCTGTGTTCCCATAAGGCCCTGCACTTGACTTCTGTGCT TCCATAATGCTCTGCACTTGATTTGTGTTCTCATAATGCCATGCACTTGA TTCCTGTGTTCCCATAATGCCCTGAACTTGACCTCTATATTCCCATAATG CCCTGCACTTGATTTCTGTGTTCCCATAAAGCCCTGCACTTGACTTCTGT GTTCCCATAAGGCCCTGCACTTGACTTCTGTG	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(301): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAA GAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATCCCAGCA TTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGAGACCAG CCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAATTTAGTC ACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGAGACA GGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCTGAGA TCGCGCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0188 a0001c0004t0003g0188	1	412	0.0024	308	c.-35 others(323): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACAAGA AAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATCCCAGCATT TTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGAGACCAGCC TGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAATTTAGTCAC ACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGAGACAGG AAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCTGAGATC GCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GLB1L3_chr11_134271379_134324564	134308209	C C	CACCACCA others(301): Show CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA TCATCACCATCACCACCATCACCATCACCACCACCACCACCACCACCACC ACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCATCA CCATCACCACCACCACTACCACCACCACCATCACCATCACCATCATCACC ATCACCACCATCACCATCACCACCACCACCACCACCACCACCACCAAATA CCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACC ACCACCACT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0102	1	422	0.0024	308	c.961 others(325): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCATCACCATCACCACCACCA CCACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCAC TACCACCACCATCACCATCACCACCACCACTACCACCACCACCATCACCA TCACCATCATCACCATCACCACCATCACCATCACCACCACCACCACCACC ACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCA CCATCACCATCACCACCACCACTACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMEB2_chr20_63582605_63632101	63609451	C C	CACACCTC others(301): Show CACACCTCCATTTCTAGAAACATGCCCCTGACCCCACACATCCATTTCTA GAAACATGTCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGA CCCACCTCCATTTCTAGAAACATGTCCCTCTGACCCACACCTCCATTTCT AGAAACATGCCCCTGACCCCACACATCCATTTCTAGAAACATGCCCCTCT GACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACATCCATT TCTAGAAACATGTCCCTCTGACTCACCTCCATTTCTAGAAACATGCCACT CTGACCCCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0133 a0001c0003t0002g0133	1	330	0.0030	308	c.132 others(325): Show c.132-4612_132-4611insTGGGGTCAGAGTGGCATGTTTCTAGAAA TGGAGGTGAGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTCAG AGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGA AATGGATGTGTGGGGTCAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTC AGAGGGACATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTG GAAATGGAGGTGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGG TCAGGGGCATGTTTCTAGAAATGGAGGTGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNA14_chr9_77418079_77653322	77475028	T T	TCCAGTGT others(301): Show TCCAGTGTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19043.hp1 HG01081.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0146 a0001c0002t0001g0124 a0001c0002t0001g0146	2	240	0.0083	308	c.310 others(327): Show c.310-40507_310-40506insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAGAAACACTGG	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GPHN_chr14_66503147_67186803	66923357	T T	TAATAAAG others(301): Show TAATAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	234	0.0043	308	c.729 others(323): Show c.729+432_729+433insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGAATAAAGATTTTT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRID1_chr10_85594552_86371795	86203534	T T	TAAAATTT others(301): Show TAAAATTTTACAGAAACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG01169.hp2 others(5): Show HG00558.hp1 HG01071.hp2 HG01169.hp2 HG01891.hp2 HG03490.hp1 HG03942.hp2 NA18747.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0008t0041 a0002c0007t0028 a0003c0006t0020 a0003c0006t0021	a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0002g0047 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0002g0047 a0001c0002t0004g0067 a0001c0008t0041g0010 a0002c0007t0028g0051 a0003c0006t0020g0026 a0003c0006t0021g0034	8	96	0.0833	308	c.520 others(325): Show c.520+2829_520+2830insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGTTTCTGTAAAATTTT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	3/15			chr10	TogoVar
GTPBP6_chrX_299759_323796	321752	A A	AAAAAAAA others(301): Show AAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATC TACAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAATTAGCCTGGTGTG GTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGAT TGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCC ATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0023 a0007c0008t0001g0023	1	155	0.0065	308	c.-29 others(319): Show c.-2966_-2965insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TCTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTC TTTCTTTTTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2957		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(301): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGAGGGAAGG GGGAGGGGGGAGGGGGAAGGGAAGGGAGGGAAGGGAAGGGTGGGAGGGGA GGGGGGAGCGGAAGGGAAGGGTCAGAGGGGAGGGGGAGGGGGAGGGGGAG GGAGAGAGGGAGGAGAGAGGGAGGGGAAAGGGAGGGGAAGGGAAGGGTGA GAAGGGAAGGGGAGGGGAGGGGTGGGGAAAAGGGAGGGGAAGGGCAGGGG AAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	256	0.0039	308	c.169 others(329): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCCTCCCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTT CCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCC CCTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCCC TTCCCTCCTCCCCCCTCCCTCACCCTCCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
H2BC6_chr6_26178761_26189230	26187715	A A	AAATGACT others(301): Show AAATGACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG03710.hp1 others(1): Show HG02451.hp2 HG03098.hp2 HG03710.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	388	0.0103	308	c.35 others(319): Show c.3539_*3540insAATGACTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGGCC	H2BC6	ENSG00000274290.3	transcript	ENST00000614097.3	protein_coding		3486		chr6	TogoVar
H4C4_chr6_26183710_26194112	26187715	A A	AAATGACT others(301): Show AAATGACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG03710.hp2 others(1): Show HG02451.hp2 HG03098.hp2 HG03710.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	4	372	0.0108	308	c.10 others(319): Show c.1049_*1050insGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAGTCATT	H4C4	ENSG00000277157.2	transcript	ENST00000614247.2	protein_coding		994		chr6	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(301): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp2 others(41): Show HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01257.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02109.hp1 HG02273.hp1 HG02293.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18945.hp1 NA18980.hp2 NA19070.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0097 a0001c0001t0001g0098 others(40): Show a0001c0001t0001g0018 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0238 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0019 a0001c0001t0002g0348 a0001c0001t0004g0319 a0001c0005t0001g0328 a0001c0005t0001g0337 a0001c0008t0001g0325	44	410	0.1073	308	c.-43 others(319): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(301): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02109.hp2 HG02630.hp2 others(2): Show HG01192.hp2 HG02109.hp2 HG02630.hp2 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0231 a0001c0001t0002g0232 a0001c0001t0007g0022 others(2): Show a0001c0001t0001g0231 a0001c0001t0002g0232 a0001c0001t0007g0022 a0001c0001t0008g0021 a0001c0004t0001g0235	5	410	0.0122	308	c.-43 others(319): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(301): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	428	0.0023	308	c.187 others(325): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HECW1_chr7_43107647_43571001	43194355	T T	TAAAAATC others(301): Show TAAAAATCTGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0125 a0001c0006t0001g0125	1	182	0.0055	308	c.-31 others(327): Show c.-31-49509_-31-49508insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAATCTGGG	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HIF3A_chr19_46292042_46348433	46313824	G G	GCTAATTT others(301): Show GCTAATTTTTATATATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18984.hp1 NA19000.hp2 others(1): Show NA18972.hp1 NA18984.hp1 NA19000.hp2 NA19055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0005 a0001c0005t0001 a0001c0005t0005	a0001c0005t0001g0068 a0001c0005t0001g0072 a0001c0005t0001g0084 others(1): Show a0001c0005t0001g0068 a0001c0005t0001g0072 a0001c0005t0001g0084 a0001c0005t0005g0074	4	418	0.0096	308	c.102 others(327): Show c.1025+1184_1025+1185insATTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAATTTTTATAT	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIF3A_chr19_46292042_46348433	46313824	G G	GCTAATTT others(301): Show GCTAATTTTTATATATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18973.hp2 NA19004.hp1 others(1): Show NA18957.hp2 NA18973.hp2 NA19004.hp1 NA19070.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0026 a0001c0005t0001 a0001c0005t0026	a0001c0005t0001g0070 a0001c0005t0001g0071 a0001c0005t0001g0075 others(1): Show a0001c0005t0001g0070 a0001c0005t0001g0071 a0001c0005t0001g0075 a0001c0005t0026g0069	4	418	0.0096	308	c.102 others(327): Show c.1025+1184_1025+1185insATTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAATTTTTATAT	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIF3A_chr19_46292042_46348433	46313824	G G	GCTAATTT others(301): Show GCTAATTTTTATATATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GTGCCCGGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0073 a0001c0005t0001g0073	1	418	0.0024	308	c.102 others(327): Show c.1025+1184_1025+1185insATTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGTGCCCGGCCTAATTTTTATAT	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HRAS_chr11_527242_540576	531026	C C	CAGAAGGG others(301): Show CAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGG AGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGA AGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	397	0.0025	308	c.15 others(319): Show c.1501_*1502insCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCAC ACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGA CGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCC AGGGGACGCCACACTCCCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1215		chr11	TogoVar
HRH3_chr20_62209960_62225278	62213614	G G	GGGAGAGC others(301): Show GGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAG TGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGG ATGGGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGG GGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAGG AGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCG GGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGATGG GTGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	308	c.23 others(319): Show c.2391_*2392insTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCA TCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTC TCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTTGCTCTCCC TTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCACC CATCCCCACTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCATCCCC GCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCTTGCTC TCCCTTCCCCCATCCCCGCTCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1345		chr20	TogoVar
HSD17B3_chr9_96230306_96307176	96301414	T T	TAAAAATA others(301): Show TAAAAATACAAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	374	0.0027	308	c.154 others(323): Show c.154+536_154+537insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCGTTTTGTATTTTT	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	1/10			chr9	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(301): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0037 a0006c0012t0001g0037	1	174	0.0058	308	c.132 others(327): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(301): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02451.hp1 others(12): Show HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02818.hp1 HG02922.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0015 a0016 a0024 a0031	a0001c0001 a0002c0010 a0002c0017 others(8): Show a0001c0001 a0002c0010 a0002c0017 a0002c0041 a0003c0004 a0003c0022 a0005c0009 a0015c0019 a0016c0023 a0024c0039 a0031c0070	a0001c0001t0001 a0002c0010t0003 a0002c0017t0001 others(8): Show a0001c0001t0001 a0002c0010t0003 a0002c0017t0001 a0002c0041t0035 a0003c0004t0005 a0003c0022t0005 a0005c0009t0011 a0015c0019t0001 a0016c0023t0009 a0024c0039t0011 a0031c0070t0001	a0001c0001t0001g0043 a0002c0010t0003g0158 a0002c0017t0001g0039 others(12): Show a0001c0001t0001g0043 a0002c0010t0003g0158 a0002c0017t0001g0039 a0002c0041t0035g0155 a0003c0004t0005g0036 a0003c0004t0005g0041 a0003c0022t0005g0046 a0005c0009t0011g0153 a0005c0009t0011g0156 a0005c0009t0011g0157 a0015c0019t0001g0038 a0016c0023t0009g0044 a0016c0023t0009g0045 a0024c0039t0011g0152 a0031c0070t0001g0042	15	174	0.0862	308	c.132 others(327): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(301): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02698.hp1 HG02895.hp2 others(11): Show HG01346.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG03492.hp2 NA18612.hp1 NA18944.hp2 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18986.hp2 NA19004.hp1 NA19010.hp2 NA19086.hp2	a0004 a0010 a0011 others(4): Show a0004 a0010 a0011 a0012 a0017 a0019 a0022	a0004c0006 a0004c0033 a0010c0034 others(6): Show a0004c0006 a0004c0033 a0010c0034 a0010c0035 a0011c0027 a0012c0013 a0017c0031 a0019c0024 a0022c0026	a0004c0006t0004 a0004c0006t0024 a0004c0033t0001 others(7): Show a0004c0006t0004 a0004c0006t0024 a0004c0033t0001 a0010c0034t0004 a0010c0035t0001 a0011c0027t0001 a0012c0013t0006 a0017c0031t0030 a0019c0024t0001 a0022c0026t0001	a0004c0006t0004g0048 a0004c0006t0004g0051 a0004c0006t0004g0055 others(11): Show a0004c0006t0004g0048 a0004c0006t0004g0051 a0004c0006t0004g0055 a0004c0006t0004g0056 a0004c0006t0024g0053 a0004c0033t0001g0052 a0010c0034t0004g0063 a0010c0035t0001g0054 a0011c0027t0001g0064 a0012c0013t0006g0049 a0012c0013t0006g0050 a0017c0031t0030g0061 a0019c0024t0001g0058 a0022c0026t0001g0057	14	174	0.0805	308	c.132 others(327): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
ICA1_chr7_8108184_8267167	8152562	A A	ACCACCAC others(301): Show ACCACCACCACATCTCCTTCACCACCACTACCCCCAGCACTACCACCATC ACCTCTTCCACCACTACCATCATCTCCTCCACCACCACTACCACCACCAC CACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCATCA CCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACC ACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCAC CACCACCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCA CCATCACCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	274	0.0037	308	c.804 others(325): Show c.804+4553_804+4554insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGG AGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTG GTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGT GGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGATGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGG GTAGTGGTGGTGAAGGAGATGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(301): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATATATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ACATATGGAATATATATACGGAATATATACATATGGAACATATATATACG GAATATATACATATGGAACATATATATACGGAATATATACATATGGAACA TATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	323	0.0031	308	c.-21 others(319): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATATATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATACATATGGAATATATATACGGAATATATACATATG GAACATATATATACGGAATATATACATATGGAACATATATATACGGAATA TATACATATGGAACATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323520	G G	GTGGAATA others(301): Show GTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGGAAT ATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATATGTG GAATATATATGTGGAATATATATGTGGAATATATATATATGGAATATATA TGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAA TATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATAT GGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATAT ATATGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0109 a0003c0003t0031g0109	1	323	0.0031	308	c.-15 others(319): Show c.-1536_-1535insTGGAATATATATATGTGGAATATATATGTGGAAT ATATATATGTGGAATATATATGTGGAATATATATATGTGGAATATATATG TGGAATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATA TATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAA TATATATATATGGAATATATATGTGGAATATATATATATGGAATATATAT GTGGAATATATATATGGAATATATATATATGGAATATATATGTGGAATAT ATATATATGGAATATATATGTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1449		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(301): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATTATATATGATATATAATATATACATATATTAT ATATCATATATTATATATGATATATAATACATACATATATATGATATATA ATACATACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18966.hp1 HG00621.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0005 a0001c0002t0001g0006	2	141	0.0142	308	c.772 others(327): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATACATATATTATATATCATATATTATATATGATATATAA TATATACATATATTATATATCATATATTATATATGATATATAATACATAC ATATATATGATATATAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(301): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATTATATATGATATATAATATATACATATATTAT ATATCATATATTATATATGATATATAATACATACATATATATGATATATA ATACATACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	141	0.0071	308	c.772 others(327): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATTATATATGATATATAA TATATACATATATTATATATCATATATTATATATGATATATAATACATAC ATATATATGATATATAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(301): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATTATATATGATATATAATATATACATATATTAT ATATGATATATTATATATGATATATAATACATACATATATATGATATATA ATACATACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	141	0.0071	308	c.772 others(327): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATTATATATGATATATAA TATATACATATATTATATATGATATATTATATATGATATATAATACATAC ATATATATGATATATAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(301): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTC TCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTC CCTTCCCCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	115	0.0087	308	c.759 others(325): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC CTCTCTGTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361016	C C	CCTCTGTC others(301): Show CCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTC TCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTC CCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	115	0.0087	308	c.759 others(325): Show c.759+2268_759+2269insCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTCTGTCTCTCTCTCCCTT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP4B_chr4_142018160_142851301	142460869	T T	TCCACATT others(301): Show TCCACATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCTGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	90	0.0111	308	c.-12 others(327): Show c.-127+1793_-127+1794insGCCAGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAATGTGG	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	3/25			chr4	TogoVar
IRAK2_chr3_10159919_10248745	10224732	C C	CCATCCAT others(301): Show CCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCC ACCCATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCAC CTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCC ACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCCACCCACCCATCCACCCACCCACCTGTCC ACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCAC CTACCCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG00639.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001	a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0002g0283 others(2): Show a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0002g0283 a0002c0006t0001g0284 a0002c0006t0001g0285	5	292	0.0171	308	c.121 others(327): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATC CATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCACC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224736	C C	CCATCCAC others(301): Show CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCTGT CCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCATCCATCCACCCACCCACCCACCTATCCATCCACCCACCCACCCAC CCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCC ACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCAC CTACCCACA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0111 a0005c0007t0001g0111	1	292	0.0034	308	c.121 others(327): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATC CATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCTATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCA CCCATCCATTTATCCACCTACCCACACATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACACA others(301): Show TACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	232	0.0043	308	c.-67 others(327): Show c.-67-49303_-67-49302insCACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(301): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	232	0.0043	308	c.-67 others(327): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(301): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0063 a0001c0003t0009g0063	1	375	0.0027	308	c.317 others(325): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GTGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(301): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCA AGCTCCGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02735.hp2 HG03017.hp2 others(1): Show HG01175.hp1 HG02735.hp2 HG03017.hp2 HG03540.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0047 a0001c0054 a0003c0027 others(1): Show a0001c0047 a0001c0054 a0003c0027 a0004c0011	a0001c0047t0009 a0001c0054t0014 a0003c0027t0033 others(1): Show a0001c0047t0009 a0001c0054t0014 a0003c0027t0033 a0004c0011t0020	a0001c0047t0009g0127 a0001c0054t0014g0071 a0003c0027t0033g0122 others(1): Show a0001c0047t0009g0127 a0001c0054t0014g0071 a0003c0027t0033g0122 a0004c0011t0020g0154	4	160	0.0250	308	c.135 others(327): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCT CAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)