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
SLC22A16_chr6_110419687_110481613	110473739	A A	ATGGTCTC others(302): Show ATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCTTTTTTTTTTTTGTT TTTTTGTTTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCCCCTAGGTTCAAGC GATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCCGCCA CTGTGCATGGCTAATTTTTGTATTTATAGTAGAGACGGGGTTTCACCATC TTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(78): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp2 HG02965.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG04199.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0017 a0019	a0001c0001 a0002c0002 a0002c0010 others(4): Show a0001c0001 a0002c0002 a0002c0010 a0009c0011 a0010c0014 a0017c0029 a0019c0027	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0010t0001 a0009c0011t0001 a0010c0014t0002 a0017c0029t0001 a0019c0027t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0243 others(76): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0271 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0361 a0001c0001t0002g0273 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0002c0002t0001g0018 a0002c0002t0001g0245 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0370 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0379 a0002c0002t0001g0380 a0002c0002t0002g0285 a0002c0002t0002g0348 a0002c0002t0002g0351 a0002c0002t0002g0355 a0002c0002t0002g0378 a0002c0002t0003g0374 a0002c0002t0003g0375 a0002c0010t0001g0242 a0009c0011t0001g0244 a0009c0011t0001g0247 a0009c0011t0001g0250 a0010c0014t0002g0359 a0017c0029t0001g0340 a0019c0027t0001g0241	81	416	0.1947	309	c.53+ others(324): Show c.53+2782_53+2783insGCCTGGCCAAGATGGTGAAACCCCGTCTCT ACTATAAATACAAAAATTAGCCATGCACAGTGGCGGGCGCCTGTAATCCC AGCTACTAGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTAGGGGGTGGA GGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTTCATCTCAAAAAAAAACAAAAAAACAAAAAAAAAAAAGCTGG GTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CAGATCACGAGGTCAGGAGATCGAGACCA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(302): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0025 a0001c0001t0016 a0001c0001t0025	a0001c0001t0016g0154 a0001c0001t0025g0157 a0001c0001t0016g0154 a0001c0001t0025g0157	2	182	0.0110	309	c.100 others(328): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(302): Show GGAGAGAGAGAGAGAGGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGA GAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GGGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0168 a0001c0003t0003g0168	1	188	0.0053	309	c.80 others(320): Show c.8066_*8067insTCCCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCCACGGTCTCCCTCT CCCTCTCTCCCTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SLCO3A1_chr15_91848708_92170903	91957026	A A	ATAATATA others(302): Show ATAATATATAGTATATATATTATATATATAATATATAGTATATATAATAT ATAGTATATATATTATATATATTATATACTATATATTATATATAATATAT AGTATATATAATATATATACTATATATTATATATAATATATAGTATATAA TATATATATTATATATACTATATATTATATATAATATATAGTATATAATA TATATAATATATATACTATATATTATATATATAATATATAGTATATAATA TATATAATATATATACTATATATTATATATATAATATATAGTATATAATA TATATATAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	190	0.0053	309	c.646 others(328): Show c.646+40568_646+40569insTAATATATAGTATATATATTATATAT ATAATATATAGTATATATAATATATAGTATATATATTATATATATTATAT ACTATATATTATATATAATATATAGTATATATAATATATATACTATATAT TATATATAATATATAGTATATAATATATATATTATATATACTATATATTA TATATAATATATAGTATATAATATATATAATATATATACTATATATTATA TATATAATATATAGTATATAATATATATAATATATATACTATATATTATA TATATAATATATAGTATATAATATATATATAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(302): Show TCATACATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01255.hp1 others(16): Show HG00558.hp2 HG00621.hp1 HG01255.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp1 NA19064.hp2 NA19081.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0005 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0001t0028 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0006t0004 a0001c0007t0002 a0002c0005t0006 a0002c0005t0043 a0003c0012t0004	a0001c0001t0001g0028 a0001c0001t0001g0080 a0001c0001t0003g0020 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0080 a0001c0001t0003g0020 a0001c0001t0008g0067 a0001c0001t0010g0019 a0001c0001t0027g0040 a0001c0001t0028g0011 a0001c0001t0052g0189 a0001c0002t0001g0089 a0001c0002t0001g0118 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0092 a0001c0006t0004g0041 a0001c0006t0004g0114 a0001c0007t0002g0148 a0002c0005t0006g0173 a0002c0005t0043g0184 a0003c0012t0004g0153	19	190	0.1000	309	c.647 others(328): Show c.647-65057_647-65056insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(302): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAATATATATATTATATAAT ATATATATAATATATATAAAATATATATATTATATAATATATATATAATA TATATAAAATATATATATTATATAATATATATATAATATATATAAAATAT ATATATTATATAATATATATATAATATATATATAATATATATAATATATA TAAAATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	190	0.0053	309	c.151 others(328): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATAATA TATATATAATATATATAAAATATATATATTATATAATATATATATAATAT ATATATAATATATATAATATATATAAAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(302): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01981.hp1 others(2): Show HG00738.hp1 HG01175.hp2 HG01981.hp1 HG02148.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0219 a0001c0001t0002g0208	5	366	0.0137	309	c.265 others(326): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNTG2_chr2_945849_1372613	965349	G G	GTCCTCCT others(302): Show GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT GGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCC AGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02976.hp2 HG02572.hp1 HG02647.hp2 HG02976.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0008 a0006c0010 a0009c0013 a0003c0008 a0006c0010 a0009c0013	a0003c0008t0001 a0006c0010t0001 a0009c0013t0001 a0003c0008t0001 a0006c0010t0001 a0009c0013t0001	a0003c0008t0001g0044 a0006c0010t0001g0043 a0009c0013t0001g0042 a0003c0008t0001g0044 a0006c0010t0001g0043 a0009c0013t0001g0042	3	190	0.0158	309	c.72+ others(326): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056959	A A	AGGGAGGG others(302): Show AGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGC GCCACGCTGTGGGGAGGGAGGGAGGGAGAGCGCGGCGCCCCGCTGTGGGG AGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGAGCG TCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTGGGG AGGGAGAGAGGGAGAGCACGGCGCCCCGCTGTGCTGTGGGGAGGGAGGGA GAGCGTCGCGCTGTGCTGTGGGGAGGGAGGGAGGGAGGGAGAGAGCGGGG CCACGTTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0108 a0003c0007t0001g0108	1	190	0.0053	309	c.73- others(326): Show c.73-26550_73-26549insAGCGTCGCGCTGTGCTGTGGGGCGGGAG GGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCGCGGCGC CCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAG GGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGCGC CACGCTGTGGGGAGGGAGAGAGGGAGAGCACGGCGCCCCGCTGTGCTGTG GGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGAGGGAGGGAGGGAGG GAGAGAGCGGGGCCACGTTGTGGGGAGGGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACT GCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02165.hp1 HG02145.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0160 a0001c0001t0004g0136 a0001c0001t0001g0160 a0001c0001t0004g0136	2	380	0.0053	309	c.-13 others(326): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46169734	G G	GGGAGGAG others(302): Show GGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCC CCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGA GCATCCTCTGTGGATGGGGAGGAGCCTCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCTCCTGCTTTGTGAGCATCCTCTGTGGATGGGGAGGA GCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCT GTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCT CTGTGGATGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	251	0.0040	309	c.194 others(326): Show c.194-1077_194-1076insACATCCACAGAGGATGTTCACAGAGCAG GGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCC CCATCCACAGAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAG GATGCTCACAAAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAG AGCAGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGCTCC TCCCCATCCACAGAGGATGCTCACAGAGCAGGGGGCTCCTCCCCATCCAC AGAGGATGTTCACAGAGCAGGAGGCTCCTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46169857	G G	GCTCTGCT others(302): Show GCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTG TGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCT GTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGA GGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTA TTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCA TCCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGAT GGGGAGGAGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0071 a0009c0015t0001g0071	1	251	0.0040	309	c.194 others(326): Show c.194-1200_194-1199insGCTCCTCCCCATCCACAGAGGATGTTCA CAGAGCAGGGGGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGG CTCCTCCCCATCCACAGAGGATGTTCACAGAATAGGGGGCTCCTCCCCAT CCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGAT GCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGC AGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTC CCCATCCACAGAGGATGCTCACAGAGCAGAG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(302): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCC CCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCC ACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	418	0.0024	309	c.54 others(320): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
ST3GAL3_chr1_43702536_43936159	43743239	C C	CAAAACAG others(302): Show CAAAACAGAGCCCCCCTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 NA20752.hp1 others(1): Show HG00642.hp2 HG01243.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0026 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0007g0063	4	274	0.0146	309	c.118 others(326): Show c.118+6873_118+6874insCTCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAACAGAGCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STON1_chr2_48525154_48603513	48564581	C C	CCTTCTCC others(302): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	376	0.0027	309	c.-47 others(328): Show c.-47-16004_-47-16003insTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX1_chr10_68822531_68898060	68835205	C C	CTAATTTT others(302): Show CTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	312	0.0032	309	c.310 others(326): Show c.310+7288_310+7289insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTAATTTTTGTATTTTT	STOX1	ENSG00000165730.16	transcript	ENST00000298596.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102637808	A A	ATAATTAT others(302): Show ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTTATATATGATTATAAATTATAATTATATA TGATTATCTAAAATATAATATACTCTGATTATAAAATATAATATATATGA TTAAAAATAATAATATATATGATAATATAATAGATTATAAAATATAATTA TAAATGATTATAATAGATTATAAATATACATGATATAAAATCTATACATC TACATAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	268	0.0037	309	c.76 others(320): Show c.7653_*7654insTAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTTATATATGATTATA AATTATAATTATATATGATTATCTAAAATATAATATACTCTGATTATAAA ATATAATATATATGATTAAAAATAATAATATATATGATAATATAATAGAT TATAAAATATAATTATAAATGATTATAATAGATTATAAATATACATGATA TAAAATCTATACATCTACATAAAAC	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4274		chr10	TogoVar
SUSD1_chr9_112035783_112180297	112178402	C C	CAAGAGAG others(302): Show CAAGAGAGCATGGTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATTCAAAAAATTAGCCGGGCGTGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAG TCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	338	0.0030	309	c.-31 others(320): Show c.-3168_-3167insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGAATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCAACCATGCTCTCTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding		3106		chr9	TogoVar
SUZ12_chr17_31932007_32006038	31991357	T T	TAAAAAAT others(302): Show TAAAAAATATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	280	0.0036	309	c.120 others(328): Show c.1202-1875_1202-1874insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAATATA	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(302): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATATATGTGTT ATATATACACATATGTGTATATGTATATATACATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA CACATATGTGTATATATAACACATATATACACATATGTGTATATATAACA CATATATACACATATGTGTATATATACATATATACATATACACATATGTG TATATATAAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp1 HG02735.hp1 others(21): Show HG02027.hp1 HG02055.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03834.hp2 NA18747.hp1 NA18951.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0056	a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0108 others(21): Show a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0290 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0005g0003 a0001c0001t0005g0279 a0001c0001t0005g0303 a0001c0001t0005g0338 a0001c0001t0007g0275 a0001c0001t0012g0310 a0001c0001t0014g0269 a0001c0001t0024g0207 a0001c0001t0056g0150	24	376	0.0638	309	c.158 others(328): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATATATGTGTTATATATACACATATGTGTATATGTATATATAC ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAACACATATATACACATATGTGTATATATAACACATATATACAC ATATGTGTATATATAACACATATATACACATATGTGTATATATACATATA TACATATACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(302): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATATATGTGTT ATATATACACATATGTGTATATGTATATATACATATATACACATATGTGT ATATATACATATATACATATGCACATATGTGTATATATAACACATATATA CACATATGTGTATATATAACACATATATACACATATGTGTATATATAACA CATATATACACATATGTGTATATATACATATATACATATACACATATGTG TATATATAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02523.hp1 NA18944.hp1 others(6): Show HG00438.hp1 HG02523.hp1 NA18944.hp1 NA18954.hp2 NA18973.hp1 NA18992.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0036 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0036 a0001c0001t0064 a0003c0015t0001	a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0141 a0001c0001t0001g0205 a0001c0001t0001g0288 a0001c0001t0005g0152 a0001c0001t0036g0339 a0001c0001t0064g0154 a0003c0015t0001g0142	9	376	0.0239	309	c.158 others(328): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATATATGTGTTATATATACACATATGTGTATATGTATATATAC ATATATACACATATGTGTATATATACATATATACATATGCACATATGTGT ATATATAACACATATATACACATATGTGTATATATAACACATATATACAC ATATGTGTATATATAACACATATATACACATATGTGTATATATACATATA TACATATACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D1_chr4_37886084_38144173	38102274	T T	TTCTCTTT others(302): Show TTCTCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02630.hp2 others(3): Show HG01167.hp1 HG01243.hp1 HG02630.hp2 HG02976.hp2 HG03209.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0009 a0001c0001 a0001c0005 a0003c0009	a0001c0001t0002 a0001c0005t0001 a0003c0009t0007 a0001c0001t0002 a0001c0005t0001 a0003c0009t0007	a0001c0001t0002g0019 a0001c0001t0002g0142 a0001c0005t0001g0021 others(3): Show a0001c0001t0002g0019 a0001c0001t0002g0142 a0001c0005t0001g0021 a0001c0005t0001g0044 a0001c0005t0001g0045 a0003c0009t0007g0239	6	310	0.0194	309	c.268 others(326): Show c.2681-717_2681-716insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCTCTTTC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	46860450	C C	CTTTTTTG others(302): Show CTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCA GAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGT CCAGAATCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 NA19240.hp1 HG02486.hp1 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0007 a0001c0001t0002g0098 a0001c0001t0009g0043 a0001c0001t0001g0007 a0001c0001t0002g0098 a0001c0001t0009g0043	3	112	0.0268	309	c.638 others(328): Show c.638-18199_638-18198insTTGATAGAGGTCCGCGCAGTGCTGTG CCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTG TGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCT GTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCCGTGCCCCTTCCCGGGTCCAGAATCCTTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860450	C C	CTTTTTTG others(302): Show CTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCA GAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGAC CAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGT CCAGAATCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01361.hp1 HG01361.hp2 others(7): Show HG00597.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02109.hp2 HG02886.hp1 NA19030.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0005c0006t0021	a0001c0001t0002g0009 a0001c0001t0003g0026 a0001c0001t0003g0073 others(7): Show a0001c0001t0002g0009 a0001c0001t0003g0026 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0070 a0001c0001t0004g0101 a0001c0001t0006g0112 a0005c0006t0021g0019	10	112	0.0893	309	c.638 others(328): Show c.638-18199_638-18198insTTGATAGAGGTCCGCGCAGTGCTGTG CCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTG TGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCT GTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTG CTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCCGTGCCCCTTCCCGGGTCCAGAATCCTTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47020505	T T	TAAAACAA others(302): Show TAAAACAAGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0109 a0001c0001t0019g0109	1	112	0.0089	309	c.120 others(330): Show c.1202-16556_1202-16555insCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412176	T T	TCCCCATC others(302): Show TCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATC CCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCC TCCTCCTCCCCTCCCTTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCC CCTTCTCCCTTCCCCCCTCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCC CTCCCCTCTCCCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTC CCCCTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCGTCCCCTCCCTC CACTCCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0018 a0001c0001t0014g0018	1	268	0.0037	309	c.186 others(326): Show c.186-2253_186-2252insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCCCTCCTCCTCCCCTCCCTTCCCCCTCCCCCCCTCC CCCTCCCCCCTCCCCCCCCTTCTCCCTTCCCCCCTCCCTCCCCCCCTCTC CCTTCCCCCCTCCCCCCCTCCCCTCTCCCCCCCCTCCCCCTCCTCTCCCT TCCCCCCCTCTCCCTTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCCTCC CCCCCGTCCCCTCCCTCCACTCCCTCCCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(302): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTCCTCCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCTCTC CCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCC CCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTC CCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCC CCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	268	0.0037	309	c.186 others(326): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCCCCCCCCT CCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTC CCCCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCT CTCCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCC CCCCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(302): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCCCGTCCCCTCCTCTCCC CTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0065 a0001c0001t0032g0065	1	268	0.0037	309	c.186 others(326): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CCCGTCCCCTCCTCTCCCCTCCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1627902	C C	CAGAACTC others(302): Show CAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGG GGACAGCAGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0267 a0001c0002t0002g0267	1	352	0.0028	309	c.299 others(324): Show c.299-477_299-476insACTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCATCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGTTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628061	C C	CGGGAAGG others(302): Show CGGGAAGGGGACAGCAGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGGG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAACTCACGGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGTGAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0349 a0001c0002t0035g0349	1	352	0.0028	309	c.299 others(324): Show c.299-636_299-635insACCTCACCCCGTGAGTTCTGCTGTCCCCTT CCCGCCTCACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCTCATCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCT GTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCCGTGAGTTCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628744	A A	ATGCGGGA others(302): Show ATGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG GTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAACTCACGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAG GGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0331 a0001c0003t0005g0331	1	352	0.0028	309	c.299 others(326): Show c.299-1319_299-1318insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCC CCTTTCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CAGGGGAT others(302): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0018 a0005c0010t0018	a0005c0010t0018g0171 a0005c0010t0018g0171	1	352	0.0028	309	c.299 others(326): Show c.299-1413_299-1412insCGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGTTCTGCTGTCCCCTTTCCCGCCTCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629079	A A	AGGTGGGA others(302): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAG AGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAA GGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTC ATGGGGATGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0159 a0002c0001t0029g0159	1	352	0.0028	309	c.299 others(326): Show c.299-1654_299-1653insCCATCCCCATGAGCTCTGCTGTCCCCTT CCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC TCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(302): Show GGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGC TCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAG CAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	352	0.0028	309	c.299 others(326): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGC TCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTCC CGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273056	C C	CACGACCA others(302): Show CACGACCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	392	0.0026	309	c.228 others(326): Show c.2287-777_2287-776insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGTGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273520	A A	ACATCAGA others(302): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	392	0.0026	309	c.228 others(328): Show c.2287-1241_2287-1240insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TES_chr7_116205539_116263783	116225172	T T	TAAAAACA others(302): Show TAAAAACACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCA GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0301 a0001c0002t0006g0301	1	386	0.0026	309	c.28- others(324): Show c.28-9353_28-9352insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAACACT	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TEX29_chr13_111315642_111349248	111326259	G G	GCGCTGGT others(302): Show GCGCTGGTGGGTGTCTGGTGGGGTGGAGGAGACCGCGGGCAGCGTGAGGC TGTCTGGTGGGGTGGAGGAGACCGCGGGCAGCGTGAGGCTGTCTGGTGGG GTGGAGGAGACTGTGGGCAGTGTGAGCCTGCCGCTGGTGGGTGTCTGGTG GGGTGGAAGAGACTGCGGGCAGTGTGAGCCTGTCTGGTGGGGTGGAGACT GCGGGCAACGCGAGCCTGGGGCTGGTGGGTGTCTGGTGGGGTGGAGGAGA CCGCGGGCAGCGTGAGGCTGTCTGGTGGGGTGGAGGAGACTGTGGGCAGT GTGAGCCTGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01358.hp2 HG02602.hp1 others(3): Show HG01099.hp2 HG01358.hp2 HG02602.hp1 HG02602.hp2 HG03490.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0120	6	416	0.0144	309	c.59- others(324): Show c.59-1898_59-1897insGGAGACCGCGGGCAGCGTGAGGCTGTCTGG TGGGGTGGAGGAGACCGCGGGCAGCGTGAGGCTGTCTGGTGGGGTGGAGG AGACTGTGGGCAGTGTGAGCCTGCCGCTGGTGGGTGTCTGGTGGGGTGGA AGAGACTGCGGGCAGTGTGAGCCTGTCTGGTGGGGTGGAGACTGCGGGCA ACGCGAGCCTGGGGCTGGTGGGTGTCTGGTGGGGTGGAGGAGACCGCGGG CAGCGTGAGGCTGTCTGGTGGGGTGGAGGAGACTGTGGGCAGTGTGAGCC TGCCGCTGGTGGGTGTCTGGTGGGGTGGA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS2_chr6_169210785_169258846	169236149	C C	CCCATCCA others(302): Show CCCATCCACACTCATTCCCCATCCACACTCATTGCCCCATAAACACCATC CACACTCACTCCCCATCCACACTCACTCCCCATCCACATTCACTCCCATC TATACTCACTCCCCATCCACACTCATTCCCATCCACAGTCACTCCCCATC CACACTCACTCCCCCATCCACACTCTCCCTCCACCATCCACACTCTCCCT CCCCCATCCACACTCCCTCCCCATCCACACTCACTCCCCATCCACACTCA CCATCCACACTCACTCCCATCCACACTCACTCCCCATCCACACTCATTCC CCCTTAAACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp1 others(44): Show HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18947.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA18994.hp1 NA19004.hp1 NA19009.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0005 a0001c0023 others(2): Show a0001c0001 a0001c0005 a0001c0023 a0001c0038 a0015c0042	a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 a0001c0001t0031 a0001c0001t0032 a0001c0005t0001 a0001c0023t0001 a0001c0038t0001 a0015c0042t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0220 a0001c0001t0001g0272 a0001c0001t0001g0344 a0001c0001t0010g0005 a0001c0001t0010g0080 a0001c0001t0019g0154 a0001c0001t0031g0295 a0001c0001t0032g0184 a0001c0005t0001g0328 a0001c0023t0001g0127 a0001c0023t0001g0149 a0001c0038t0001g0160 a0015c0042t0001g0152	47	396	0.1187	309	c.147 others(328): Show c.1477+1020_1477+1021insTGTTTAAGGGGGAATGAGTGTGGATG GGGAGTGAGTGTGGATGGGAGTGAGTGTGGATGGTGAGTGTGGATGGGGA GTGAGTGTGGATGGGGAGGGAGTGTGGATGGGGGAGGGAGAGTGTGGATG GTGGAGGGAGAGTGTGGATGGGGGAGTGAGTGTGGATGGGGAGTGACTGT GGATGGGAATGAGTGTGGATGGGGAGTGAGTATAGATGGGAGTGAATGTG GATGGGGAGTGAGTGTGGATGGGGAGTGAGTGTGGATGGTGTTTATGGGG CAATGAGTGTGGATGGGGAATGAGTGTGGATGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	9/21			chr6	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(302): Show CCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	370	0.0027	309	c.-11 others(320): Show c.-1168_-1167insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGGGTGGG GCACAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
THOP1_chr19_2780503_2820807	2817822	C C	CAGAGCAG others(302): Show CAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGA CTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCA AGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCA GGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGT CAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAA CTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACA AGGGTGACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	2	370	0.0054	309	c.45 others(320): Show c.4546_*4547insAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCA GGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA CAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATG ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCA GGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACAAGGGTGACTA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2016		chr19	TogoVar
TINCR_chr19_5553167_5572953	5571958	T T	TAACAAGC others(302): Show TAACAAGCCAGTCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG TGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0034 a0001c0001t0014g0034	1	398	0.0025	309	c.-40 others(320): Show c.-4035_-4034insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCT GTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCAC CGCGCCCGGCCTGGACTGGCTTGTT	TINCR	ENSG00000223573.7	transcript	ENST00000448587.6	protein_coding		4006		chr19	TogoVar
TMEM163_chr2_134450759_134724000	134702086	T T	TAAAACTG others(302): Show TAAAACTGGAATCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	222	0.0045	309	c.322 others(328): Show c.322+11113_322+11114insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGGATTCCAGTTTT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM239_chr20_2811364_2823062	2823000	G G	GTCTCCCT others(302): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CGTCTCCCTCTCCCGTCTCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTC TCCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	309	c.59 others(320): Show c.5987_*5988insTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCGTCTCCCTCTCCCGTCTCCGTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCCTCTCCCTCTCCCTCTCCC	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4939		chr20	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(302): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTA TTTTATATATTTATATATAAATATATTTTATATATTTATATATAAATATA TATTTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATA TATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATATA TATTCTTTTATATATTTATATATAAATATACTTTTATATATTTATATATA AATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATA TTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01261.hp1 HG01433.hp1 others(17): Show HG01081.hp2 HG01261.hp1 HG01433.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02300.hp2 HG02738.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 NA18953.hp1 NA18955.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18985.hp2 NA19001.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0058 a0001c0001t0003 a0001c0001t0014 a0001c0001t0058	a0001c0001t0003g0001 a0001c0001t0003g0193 a0001c0001t0003g0197 others(12): Show a0001c0001t0003g0001 a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0014g0030 a0001c0001t0058g0211	20	348	0.0575	309	c.11 others(322): Show c.11218_*11219insTATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAATATATATTTATATATAAATATATA AAATATATTTATATATAAATATATAAAATAATATATATTTATATATAAAT ATATAAAAGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(302): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATTTTATATATTTATATATAAATATA TATTTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATA TATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATATA TATTCTTTTATATATTTATATATAAATATACTTTTATATATTTATATATA AATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATA TTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02148.hp1 HG02280.hp1 others(5): Show HG02055.hp1 HG02148.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp1 HG03017.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0045 a0001c0001t0003 a0001c0001t0011 a0001c0001t0045	a0001c0001t0003g0203 a0001c0001t0003g0209 a0001c0001t0011g0242 others(5): Show a0001c0001t0003g0203 a0001c0001t0003g0209 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0011g0245 a0001c0001t0011g0246 a0001c0001t0045g0021	8	348	0.0230	309	c.11 others(322): Show c.11218_*11219insTATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAATATATATTTATATATAAATATATA AAATATATTTATATATAAATATATAAAAGAATATATATTTATATATAAAT ATATAAAAGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMPRSS9_chr19_2355265_2431261	2383642	A A	AAGAAATT others(302): Show AAGAAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG01346.hp1 others(8): Show HG00609.hp1 HG00642.hp2 HG01346.hp1 HG01952.hp1 HG01975.hp2 HG02083.hp1 HG02148.hp2 HG02293.hp2 HG02630.hp1 HG04228.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0019	a0001c0001 a0004c0009 a0005c0010 others(1): Show a0001c0001 a0004c0009 a0005c0010 a0019c0022	a0001c0001t0001 a0004c0009t0002 a0005c0010t0002 others(1): Show a0001c0001t0001 a0004c0009t0002 a0005c0010t0002 a0019c0022t0002	a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0072 others(8): Show a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0095 a0004c0009t0002g0090 a0005c0010t0002g0085 a0019c0022t0002g0106	11	114	0.0965	309	c.-25 others(326): Show c.-25-6108_-25-6107insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACCCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGAAATTTTTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTCCCT others(302): Show CCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTC CCTCTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCCCTTTCCT TCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCTGTTTCCTTTCC TCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCTCCCGCCCT CTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTCC TTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	114	0.0088	309	c.215 others(326): Show c.2154+882_2154+883insTCCCTCCCTTTCCTTTCCTCCCTCCCTC CCTTTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCTCCTTCCC TCTCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCC CTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCCTCCC TCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTC CTTCCCTTCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCC CTTCCCTCCCACCGTCTCCTTCCCTCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC1_chr12_29495840_29788942	29539309	T T	TAAAAATC others(302): Show TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0037 a0001c0017t0037	a0001c0017t0037g0148 a0001c0017t0037g0148	1	276	0.0036	309	c.167 others(328): Show c.1677-2993_1677-2992insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCAAGGACTGATTTTT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	10/17			chr12	TogoVar
TMX1_chr14_51235247_51262655	51252268	T T	TAAAGAAA others(302): Show TAAAGAAATCTTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	426	0.0024	309	c.665 others(326): Show c.665-2059_665-2058insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGAAATCTTTCC	TMX1	ENSG00000139921.13	transcript	ENST00000457354.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 10000 hits)