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 per page.

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
SLC19A1_chr21_45507565_45547440	45527626	GGCGGGCC others(26): Show GGCGGGCCCTGGAGGTGAGTGGCAGTCAGTTACT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 NA20300.hp2 HG02559.hp2 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0088 a0001c0001t0003g0272 a0001c0001t0003g0070 a0001c0001t0003g0088 a0001c0001t0003g0272	3	318	0.0094	-33	c.115 others(52): Show c.1152-1701_1152-1669delAGTAACTGACTGCCACTCACCTCCAG GGCCCGC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar
SLC22A16_chr6_110419687_110481613	110454652	ATATATTA others(26): Show ATATATTATATATATTTATATATATTATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01981.hp2 others(17): Show HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0006 a0009c0011 a0001c0001 a0006c0006 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 a0009c0011t0001	a0001c0001t0001g0145 a0001c0001t0001g0243 a0001c0001t0001g0248 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0395 a0001c0001t0002g0394 a0006c0006t0001g0240 a0006c0006t0001g0323 a0009c0011t0001g0244 a0009c0011t0001g0247 a0009c0011t0001g0250	20	416	0.0481	-33	c.533 others(50): Show c.533+1853_533+1885delAAATATATAATATATATAAATATATATA ATATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110473491	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(68): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03516.hp1 HG03579.hp2 HG04199.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 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 a0001c0001t0001g0243 a0001c0001t0001g0271 others(66): Show a0001c0001t0001g0016 a0001c0001t0001g0243 a0001c0001t0001g0271 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0334 a0001c0001t0001g0361 a0001c0001t0002g0028 a0001c0001t0002g0273 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0002c0002t0001g0018 a0002c0002t0001g0245 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 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 a0002c0002t0001g0380 a0002c0002t0002g0285 a0002c0002t0002g0348 a0002c0002t0002g0351 a0002c0002t0002g0355 a0002c0002t0002g0378 a0002c0002t0003g0374 a0002c0002t0003g0375 a0002c0010t0001g0242 a0009c0011t0001g0244 a0010c0014t0002g0359 a0017c0029t0001g0340 a0019c0027t0001g0241	71	416	0.1707	-33	c.53+ others(48): Show c.53+2998_53+3030delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7			chr6	TogoVar
SLC23A2_chr20_4847358_5006510	4894718	GTCTGCAA others(26): Show GTCTGCAAAGACACACATCTGTTTCACTGTGTCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0030 a0001c0022t0030	a0001c0022t0030g0189 a0001c0022t0030g0189	1	204	0.0049	-33	c.482 others(50): Show c.482+4804_482+4836delAGACACAGTGAAACAGATGTGTGTCTTT GCAGA	SLC23A2	ENSG00000089057.15	transcript	ENST00000338244.6	protein_coding	6/16			chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19322350	TTTCCTTC others(26): Show TTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0118 a0002c0006t0002g0118	1	160	0.0063	-33	c.271 others(52): Show c.271+41280_271+41312delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A4_chr14_92318165_92506481	92388633	TGCCTCCT others(26): Show TGCCTCCTGTTCCCCTCTGAGTACCAAATGAGTA	T T	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	282	0.0036	-33	c.242 others(52): Show c.242-45277_242-45245delCCTCCTGTTCCCCTCTGAGTACCAAA TGAGTAG	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC25A13_chr7_96115220_96327098	96117676	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	276	0.0036	-33	c.34 others(44): Show c.3482_*3514delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding		2543		chr7	TogoVar
SLC25A1_chr22_19170581_19183736	19177346	TGCCCACA others(26): Show TGCCCACACGGACCATGCCCCGGGACACAGGGCA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp2 HG02735.hp2 others(13): Show HG02080.hp1 HG02083.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03654.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp2 NA18984.hp1 NA18997.hp1 NA19000.hp2 NA19012.hp2 NA19054.hp2 NA19072.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0032 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0032 a0001c0002t0001g0033	16	424	0.0377	-33	c.442 others(48): Show c.442-175_442-143delTGCCCTGTGTCCCGGGGCATGGTCCGTGTG GGC	SLC25A1	ENSG00000100075.10	transcript	ENST00000215882.10	protein_coding	4/8			chr22	TogoVar
SLC25A32_chr8_103393638_103420107	103418844	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	356	0.0028	-33	c.-39 others(44): Show c.-3940_-3908delAAAAAAAAAAATATATATATATATATATATATA	SLC25A32	ENSG00000164933.13	transcript	ENST00000297578.9	protein_coding		3738		chr8	TogoVar
SLC25A37_chr8_23523956_23580463	23546531	GTATATAT others(26): Show GTATATATATATATATATATATAGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	406	0.0025	-33	c.210 others(52): Show c.210+17338_210+17370delTATAGTGTATATATATATATATATAT ATATATA	SLC25A37	ENSG00000147454.14	transcript	ENST00000519973.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC26A6_chr3_48620723_48640461	48635260	CCGAGGCG others(26): Show CCGAGGCGTCGCAAGCGGAGAATGCCTGCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00639.hp1 others(56): Show HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp1 NA18979.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp1 NA19057.hp1 NA19065.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19089.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0004c0007 a0004c0009 a0006c0014	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0008t0001 a0004c0007t0001 a0004c0009t0001 a0006c0014t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(12): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0005g0066 a0002c0008t0001g0060 a0004c0007t0001g0059 a0004c0009t0001g0064 a0006c0014t0001g0063	59	280	0.2107	-33	c.23+ others(45): Show c.23+78_23+110delCTGGAGCAGGCATTCTCCGCTTGCGACGCCTCG	SLC26A6	ENSG00000225697.13	transcript	ENST00000395550.7	protein_coding	1/20			chr3	TogoVar
SLC2A14_chr12_7807514_7877915	7874808	ATACGTAT others(26): Show ATACGTATTTATATATAAATTATATATAAATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(80): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01517.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02273.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0001 a0002c0009 a0002c0010	a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 others(9): Show a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0004 a0001c0007t0004 a0001c0007t0007 a0001c0008t0001 a0002c0001t0002 a0002c0009t0002 a0002c0010t0002	a0001c0002t0003g0079 a0001c0002t0003g0090 a0001c0002t0003g0091 others(79): Show a0001c0002t0003g0079 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0100 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0263 a0001c0003t0001g0095 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0244 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0248 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0268 a0001c0005t0005g0213 a0001c0005t0005g0224 a0001c0005t0005g0229 a0001c0005t0005g0249 a0001c0005t0006g0252 a0001c0006t0004g0207 a0001c0006t0004g0212 a0001c0006t0004g0220 a0001c0006t0004g0233 a0001c0007t0004g0146 a0001c0007t0004g0203 a0001c0007t0004g0204 a0001c0007t0004g0230 a0001c0007t0007g0209 a0001c0007t0007g0211 a0001c0007t0007g0234 a0001c0007t0007g0235 a0001c0007t0007g0269 a0001c0008t0001g0201 a0001c0008t0001g0238 a0001c0008t0001g0239 a0001c0008t0001g0240 a0001c0008t0001g0242 a0002c0001t0002g0001 a0002c0001t0002g0101 a0002c0001t0002g0149 a0002c0001t0002g0150 a0002c0001t0002g0151 a0002c0001t0002g0179 a0002c0001t0002g0208 a0002c0001t0002g0210 a0002c0001t0002g0214 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0223 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0231 a0002c0001t0002g0241 a0002c0001t0002g0245 a0002c0001t0002g0247 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0253 a0002c0001t0002g0261 a0002c0001t0002g0265 a0002c0009t0002g0103 a0002c0009t0002g0264 a0002c0010t0002g0243	83	350	0.2371	-33	c.-20 others(44): Show c.-2092_-2060delCGTATTTATATATAATTTATATATAAATACGTA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1894		chr12	TogoVar
SLC35E2B_chr1_1656478_1697795	1681988	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04199.hp2 HG02602.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0056 a0001c0001t0007g0092 a0001c0001t0003g0056 a0001c0001t0007g0092	2	348	0.0058	-33	c.-14 others(52): Show c.-147-5175_-147-5143delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding	2/9			chr1	TogoVar
SLC35F2_chr11_107785991_107863787	107818071	AAAAAGAA others(26): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0115 a0001c0001t0033g0115	1	342	0.0029	-33	c.111 others(50): Show c.111-2139_111-2107delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTT	SLC35F2	ENSG00000110660.15	transcript	ENST00000525815.6	protein_coding	1/7			chr11	TogoVar
SLC35F3_chr1_233899676_234329511	234325975	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0087 a0001c0001t0014g0087	1	158	0.0063	-33	c.27 others(44): Show c.2733_*2765delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding		1465		chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234326008	AGAAGAAG others(26): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01081.hp2 others(6): Show HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG02083.hp2 HG02300.hp1 HG02647.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0104 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0003g0042 a0001c0002t0002g0027 a0001c0002t0002g0126 a0001c0002t0004g0022 a0001c0002t0005g0098	9	158	0.0570	-33	c.27 others(44): Show c.2766_*2798delGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding		1498		chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42540144	AGCATGTA others(26): Show AGCATGTATTAGGGGAACTTACATACTGAGGGCT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0153 a0001c0004t0001g0153	1	356	0.0028	-33	c.486 others(48): Show c.486+501_486+533delTGTATTAGGGGAACTTACATACTGAGGGCT GCA	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC38A1_chr12_46178063_46274043	46238777	TTCCTACC others(26): Show TTCCTACCCTGACCCTCTACTTCTTCCCCATTGC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0051 a0003c0005t0051	a0003c0005t0051g0039 a0003c0005t0051g0039	1	330	0.0030	-33	c.122 others(48): Show c.122+869_122+901delGCAATGGGGAAGAAGTAGAGGGTCAGGGTA GGA	SLC38A1	ENSG00000111371.16	transcript	ENST00000398637.10	protein_coding	3/16			chr12	TogoVar
SLC38A9_chr5_55620848_55717324	55696231	CCCAGTAG others(26): Show CCCAGTAGAGACGGCCGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(145): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0007	a0002c0002 a0002c0003 a0002c0011 others(4): Show a0002c0002 a0002c0003 a0002c0011 a0002c0013 a0004c0012 a0005c0010 a0007c0008	a0002c0002t0001 a0002c0003t0002 a0002c0003t0004 others(5): Show a0002c0002t0001 a0002c0003t0002 a0002c0003t0004 a0002c0011t0001 a0002c0013t0001 a0004c0012t0001 a0005c0010t0001 a0007c0008t0001	a0002c0002t0001g0180 a0002c0002t0001g0198 a0002c0002t0001g0210 others(144): Show a0002c0002t0001g0180 a0002c0002t0001g0198 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0003t0002g0003 a0002c0003t0002g0177 a0002c0003t0002g0194 a0002c0003t0002g0195 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0208 a0002c0003t0004g0005 a0002c0011t0001g0243 a0002c0013t0001g0250 a0004c0012t0001g0248 a0005c0010t0001g0295 a0007c0008t0001g0335	148	350	0.4229	-33	c.113 others(50): Show c.113+1582_113+1614delTGAGGGGCGCCTCTGCCCGGCCGTCTCT ACTGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A11_chr17_72640949_73097688	72729425	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0006 a0001c0001t0002 a0003c0003t0006	a0001c0001t0002g0004 a0003c0003t0006g0006 a0001c0001t0002g0004 a0003c0003t0006g0006	2	180	0.0111	-33	c.671 others(50): Show c.671+7192_671+7224delATATATATATATATATATATATATATAT ATATA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22385412	AATAGGGC others(26): Show AATAGGGCATTAGGGTTCTCAATGCCTGGGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0048 a0001c0007t0006g0048	1	324	0.0031	-33	c.-16 others(52): Show c.-16+18005_-16+18037delATAGGGCATTAGGGTTCTCAATGCCT GGGAGTG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A2_chr14_20994293_21006871	21004320	TTTGTGTG others(26): Show TTTGTGTGTCTGTCTTGTTCCTTTTGATACCATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	466	0.0022	-33	c.27 others(44): Show c.2742_*2774delTTGTGTGTCTGTCTTGTTCCTTTTGATACCATG	SLC39A2	ENSG00000165794.10	transcript	ENST00000298681.5	protein_coding		2450		chr14	TogoVar
SLC45A4_chr8_141202174_141313288	141203432	GGAGAGAG others(26): Show GGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0158 a0003c0002t0002g0158	1	188	0.0053	-33	c.81 others(44): Show c.8107_*8139delTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3741		chr8	TogoVar
SLC6A11_chr3_10811228_10945714	10811799	TCCAAAAA others(26): Show TCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01952.hp2 HG02027.hp2 others(24): Show HG00621.hp1 HG01952.hp2 HG02027.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 NA18522.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18956.hp2 NA18979.hp2 NA18992.hp2 NA18995.hp2 NA19002.hp1 NA19056.hp2 NA19063.hp1 NA19068.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0002c0011 a0002c0028 a0004c0027	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0007t0016 a0001c0009t0002 a0001c0010t0001 a0001c0013t0001 a0001c0014t0005 a0002c0011t0004 a0002c0028t0004 a0004c0027t0001	a0001c0001t0001g0065 a0001c0001t0001g0218 a0001c0001t0001g0220 others(24): Show a0001c0001t0001g0065 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0005g0010 a0001c0001t0006g0011 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0221 a0001c0002t0002g0246 a0001c0003t0001g0217 a0001c0004t0001g0236 a0001c0007t0016g0228 a0001c0009t0002g0008 a0001c0010t0001g0224 a0001c0013t0001g0231 a0001c0013t0001g0232 a0001c0014t0005g0012 a0001c0014t0005g0025 a0002c0011t0004g0219 a0002c0011t0004g0230 a0002c0028t0004g0229 a0004c0027t0001g0006	27	362	0.0746	-33	c.-44 others(44): Show c.-4466_-4434delCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding		4428		chr3	TogoVar
SLC6A4_chr17_30189319_30240697	30221393	TCCCAGGT others(26): Show TCCCAGGTCACAGCCCACCCGGGTCACAGCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(71): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18946.hp1 NA18948.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18993.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19066.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0007 a0001c0001 a0001c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0004t0002 a0004c0007t0031	a0001c0001t0001g0033 a0001c0001t0002g0003 a0001c0001t0002g0004 others(65): Show a0001c0001t0001g0033 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0005g0113 a0001c0001t0014g0105 a0001c0001t0017g0079 a0001c0001t0017g0080 a0001c0001t0017g0093 a0001c0001t0020g0005 a0001c0001t0022g0136 a0001c0001t0022g0159 a0001c0001t0029g0125 a0001c0001t0030g0133 a0001c0001t0034g0108 a0001c0001t0036g0078 a0001c0004t0002g0062 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0065 a0004c0007t0031g0147	74	286	0.2587	-33	c.343 others(48): Show c.343+190_343+222delGTGGGCTGTGACCCGGGTGGGCTGTGACCT GGG	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding	3/14			chr17	TogoVar
SLC6A5_chr11_20594608_20664285	20647314	GTTATATA others(26): Show GTTATATAGTTATATATATAACTATATATTCCTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(189): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0013 a0014 a0016 a0021 a0022	a0001c0001 a0001c0004 a0001c0021 others(19): Show a0001c0001 a0001c0004 a0001c0021 a0002c0002 a0002c0003 a0002c0008 a0002c0036 a0003c0006 a0004c0018 a0005c0010 a0005c0014 a0005c0022 a0006c0013 a0006c0024 a0007c0032 a0008c0012 a0009c0037 a0013c0016 a0014c0025 a0016c0035 a0021c0028 a0022c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0025 a0001c0001t0027 a0001c0001t0039 a0001c0001t0044 a0001c0001t0051 a0001c0004t0008 a0001c0004t0011 a0001c0004t0015 a0001c0021t0001 a0001c0021t0019 a0002c0002t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0019 a0002c0003t0033 a0002c0003t0040 a0002c0003t0047 a0002c0003t0053 a0002c0003t0054 a0002c0003t0055 a0002c0008t0001 a0002c0008t0002 a0002c0008t0006 a0002c0008t0032 a0002c0008t0065 a0002c0036t0045 a0003c0006t0001 a0003c0006t0002 a0003c0006t0043 a0004c0018t0001 a0005c0010t0011 a0005c0010t0014 a0005c0010t0050 a0005c0014t0018 a0005c0014t0027 a0005c0014t0049 a0005c0022t0024 a0006c0013t0018 a0006c0024t0002 a0007c0032t0001 a0008c0012t0001 a0008c0012t0002 a0008c0012t0041 a0009c0037t0002 a0013c0016t0014 a0014c0025t0015 a0016c0035t0001 a0021c0028t0002 a0022c0027t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(182): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0002g0010 a0001c0001t0002g0101 a0001c0001t0002g0117 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0321 a0001c0001t0010g0294 a0001c0001t0025g0120 a0001c0001t0025g0204 a0001c0001t0027g0291 a0001c0001t0039g0268 a0001c0001t0044g0272 a0001c0001t0051g0316 a0001c0004t0008g0144 a0001c0004t0011g0114 a0001c0004t0011g0182 a0001c0004t0011g0224 a0001c0004t0015g0005 a0001c0004t0015g0297 a0001c0021t0001g0203 a0001c0021t0019g0325 a0002c0002t0001g0110 a0002c0002t0011g0282 a0002c0002t0011g0298 a0002c0003t0001g0001 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0069 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0002g0038 a0002c0003t0019g0053 a0002c0003t0019g0059 a0002c0003t0019g0071 a0002c0003t0033g0065 a0002c0003t0033g0068 a0002c0003t0040g0070 a0002c0003t0047g0027 a0002c0003t0053g0031 a0002c0003t0054g0045 a0002c0003t0055g0073 a0002c0008t0001g0254 a0002c0008t0001g0256 a0002c0008t0002g0310 a0002c0008t0006g0175 a0002c0008t0006g0176 a0002c0008t0006g0300 a0002c0008t0032g0222 a0002c0008t0032g0255 a0002c0008t0065g0284 a0002c0036t0045g0024 a0003c0006t0001g0109 a0003c0006t0001g0124 a0003c0006t0001g0163 a0003c0006t0001g0207 a0003c0006t0001g0332 a0003c0006t0002g0032 a0003c0006t0002g0103 a0003c0006t0002g0123 a0003c0006t0002g0151 a0003c0006t0002g0152 a0003c0006t0002g0153 a0003c0006t0002g0209 a0003c0006t0002g0243 a0003c0006t0002g0278 a0003c0006t0043g0208 a0004c0018t0001g0095 a0004c0018t0001g0162 a0004c0018t0001g0249 a0005c0010t0011g0339 a0005c0010t0014g0333 a0005c0010t0014g0335 a0005c0010t0014g0337 a0005c0010t0014g0338 a0005c0010t0050g0334 a0005c0014t0018g0043 a0005c0014t0018g0044 a0005c0014t0018g0066 a0005c0014t0027g0049 a0005c0014t0049g0067 a0005c0022t0024g0013 a0006c0013t0018g0216 a0006c0024t0002g0156 a0006c0024t0002g0213 a0007c0032t0001g0178 a0008c0012t0001g0323 a0008c0012t0001g0327 a0008c0012t0001g0331 a0008c0012t0002g0329 a0008c0012t0041g0288 a0009c0037t0002g0015 a0013c0016t0014g0232 a0014c0025t0015g0167 a0014c0025t0015g0168 a0016c0035t0001g0061 a0021c0028t0002g0186 a0022c0027t0001g0193	192	354	0.5424	-33	c.207 others(50): Show c.2070+432_2070+464delAACTATATATTCCTATTATATAGTTATA TATAT	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC6A6_chr3_14397606_14494349	14436531	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	376	0.0027	-33	c.-11 others(50): Show c.-11-7075_-11-7043delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC9A1_chr1_27093809_27160125	27135606	TTACTGTC others(26): Show TTACTGTCACAGATTATTTCATTTAATTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	234	0.0043	-33	c.352 others(52): Show c.352+18344_352+18376delTGTGAGAATTAAATGAAATAATCTGT GACAGTA	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLCO3A1_chr15_91848708_92170903	92016221	ATAGATAG others(26): Show ATAGATAGATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG00735.hp2 others(14): Show HG00558.hp1 HG00673.hp1 HG00735.hp2 HG01517.hp2 HG01952.hp1 HG02300.hp2 HG02615.hp2 HG03041.hp2 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18991.hp1 NA18991.hp2 NA19007.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0013 a0005c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0022 a0001c0001t0038 a0001c0001t0050 a0001c0001t0052 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0004t0045 a0002c0013t0031 a0005c0014t0002	a0001c0001t0002g0052 a0001c0001t0002g0112 a0001c0001t0003g0057 others(14): Show a0001c0001t0002g0052 a0001c0001t0002g0112 a0001c0001t0003g0057 a0001c0001t0003g0101 a0001c0001t0005g0120 a0001c0001t0021g0090 a0001c0001t0022g0018 a0001c0001t0038g0181 a0001c0001t0050g0165 a0001c0001t0052g0189 a0001c0002t0002g0049 a0001c0002t0002g0149 a0001c0002t0005g0051 a0001c0002t0017g0037 a0001c0004t0045g0034 a0002c0013t0031g0099 a0005c0014t0002g0137	17	190	0.0895	-33	c.647 others(52): Show c.647-78630_647-78598delAGATTAGATAGATAGATAGATAGATA GATAGAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLF2_chr10_100907963_100970134	100959042	AGGCACAG others(26): Show AGGCACAGAACAGCCAAAGCCTTGGGCCCTGTTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	330	0.0030	-33	c.341 others(50): Show c.3418-385_3418-353delGGCACAGAACAGCCAAAGCCTTGGGCCC TGTTG	SLF2	ENSG00000119906.13	transcript	ENST00000238961.9	protein_coding	18/19			chr10	TogoVar
SLFN12L_chr17_35459254_35542678	35530414	GAAGGAAG others(26): Show GAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19088.hp1 NA18967.hp2 NA19088.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0003 a0005c0006t0091 a0004c0004t0003 a0005c0006t0091	a0004c0004t0003g0137 a0005c0006t0091g0139 a0004c0004t0003g0137 a0005c0006t0091g0139	2	360	0.0056	-33	c.-60 others(52): Show c.-606+7126_-606+7158delTTTCTTCCCTTCCCTTCCCTTCCTTC CTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLIT2_chr4_20246905_20625561	20291468	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG02622.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0054 a0001c0001t0007 a0001c0001t0054	a0001c0001t0007g0168 a0001c0001t0054g0157 a0001c0001t0007g0168 a0001c0001t0054g0157	2	230	0.0087	-33	c.395 others(52): Show c.395+22589_395+22621delATATATATATATATATATATATATTT TTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291470	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0178 a0001c0001t0007g0178	1	230	0.0044	-33	c.395 others(52): Show c.395+22591_395+22623delATATATATATATATATATATATTTTT TTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168907925	TTATATAT others(26): Show TTATATATATATTATACGTGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0020 a0003c0057t0020	a0003c0057t0020g0096 a0003c0057t0020g0096	1	132	0.0076	-33	c.414 others(52): Show c.414-24622_414-24590delTATATATATATATACACGTATAATAT ATATATA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLURP1_chr8_142735949_142747406	142745294	GGATGGAG others(26): Show GGATGGAGGGATGGGTGGCTATAAAAGTGGCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-33	c.-29 others(44): Show c.-2942_-2910delGCCGCCACTTTTATAGCCACCCATCCCTCCATC	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		2889		chr8	TogoVar
SLX9_chr21_44935029_44981973	44978596	CGTGTGGA others(26): Show CGTGTGGAACGTGTGTGGGGCGCGTGTGGAGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	334	0.0030	-33	c.17 others(44): Show c.1794_*1826delGTGTGGAACGTGTGTGGGGCGCGTGTGGAGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1624		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978607	TGTGTGGG others(26): Show TGTGTGGGGCGCGTGTGGAGCGGGTGTGGGGCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG02922.hp1 others(4): Show HG01167.hp1 HG02257.hp2 HG02922.hp1 HG03195.hp2 HG03453.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0138 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0184	7	334	0.0210	-33	c.18 others(44): Show c.1805_*1837delGTGTGGGGCGCGTGTGGAGCGGGTGTGGGGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1635		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978684	GGTGTGGG others(26): Show GGTGTGGGGCACGTGTGGAACGTGTGTGGAACGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG03579.hp1 others(1): Show HG02451.hp1 HG02723.hp2 HG03579.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0006c0006t0001g0137	4	334	0.0120	-33	c.18 others(44): Show c.1882_*1914delGTGTGGGGCACGTGTGGAACGTGTGTGGAACGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1712		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978706	TGTGTGGA others(26): Show TGTGTGGAACGTGTGTGGGGCGCGTGTGGGGCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	334	0.0030	-33	c.19 others(44): Show c.1904_*1936delGTGTGGAACGTGTGTGGGGCGCGTGTGGGGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1734		chr21	TogoVar
SMARCA2_chr9_2010347_2198620	2044806	ATATGTAA others(26): Show ATATGTAAGTAGATGTTTGAATCTCTCTCTGTCT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	316	0.0032	-33	c.791 others(50): Show c.791-2421_791-2389delATGTAAGTAGATGTTTGAATCTCTCTCT GTCTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2148622	GATGTTTT others(26): Show GATGTTTTCTTTCTTTTTTCTGAGACACACGCAC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19091.hp1 NA18952.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0307 a0002c0005t0001g0176 a0001c0003t0001g0307 a0002c0005t0001g0176	2	316	0.0063	-33	c.398 others(54): Show c.3982-13060_3982-13028delTTTTCTTTCTTTTTTCTGAGACAC ACGCACATG	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2748479	TGCCTCCC others(26): Show TGCCTCCCAGGTTCAAAGCAATTCTCCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(127): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0002 a0001c0004 a0001c0012 others(6): Show a0001c0002 a0001c0004 a0001c0012 a0001c0015 a0001c0018 a0001c0030 a0002c0006 a0010c0025 a0011c0029	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 a0001c0002t0036 a0001c0002t0037 a0001c0002t0048 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0004t0039 a0001c0004t0042 a0001c0012t0003 a0001c0012t0022 a0001c0012t0028 a0001c0015t0014 a0001c0015t0030 a0001c0018t0002 a0001c0030t0002 a0002c0006t0002 a0002c0006t0024 a0010c0025t0022 a0011c0029t0002	a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 others(127): Show a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0334 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0015g0191 a0001c0002t0018g0187 a0001c0002t0018g0204 a0001c0002t0018g0207 a0001c0002t0036g0206 a0001c0002t0037g0198 a0001c0002t0048g0123 a0001c0004t0001g0182 a0001c0004t0001g0189 a0001c0004t0002g0037 a0001c0004t0002g0045 a0001c0004t0002g0047 a0001c0004t0002g0049 a0001c0004t0002g0062 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0074 a0001c0004t0002g0076 a0001c0004t0002g0079 a0001c0004t0002g0083 a0001c0004t0002g0095 a0001c0004t0002g0098 a0001c0004t0002g0100 a0001c0004t0002g0101 a0001c0004t0002g0113 a0001c0004t0002g0116 a0001c0004t0002g0118 a0001c0004t0002g0119 a0001c0004t0002g0120 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0004t0002g0135 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0002g0142 a0001c0004t0002g0152 a0001c0004t0002g0153 a0001c0004t0002g0154 a0001c0004t0002g0209 a0001c0004t0002g0340 a0001c0004t0005g0078 a0001c0004t0005g0093 a0001c0004t0005g0122 a0001c0004t0012g0055 a0001c0004t0012g0056 a0001c0004t0012g0058 a0001c0004t0012g0086 a0001c0004t0012g0105 a0001c0004t0039g0060 a0001c0004t0042g0048 a0001c0012t0003g0254 a0001c0012t0003g0272 a0001c0012t0022g0020 a0001c0012t0028g0021 a0001c0015t0014g0304 a0001c0015t0014g0305 a0001c0015t0030g0306 a0001c0018t0002g0087 a0001c0018t0002g0147 a0001c0030t0002g0072 a0002c0006t0002g0050 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0066 a0002c0006t0002g0114 a0002c0006t0002g0115 a0002c0006t0002g0117 a0002c0006t0002g0124 a0002c0006t0002g0125 a0002c0006t0002g0126 a0002c0006t0002g0129 a0002c0006t0024g0136 a0002c0006t0024g0145 a0010c0025t0022g0203 a0011c0029t0002g0046	130	340	0.3824	-33	c.392 others(50): Show c.3927+839_3927+871delCAGGTTCAAAGCAATTCTCCTGCCTCCG CCTCC	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196515983	GATAGGAT others(26): Show GATAGGATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02258.hp1 others(21): Show HG01884.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0005 a0004c0004t0012 a0002c0002t0002 a0002c0002t0005 a0004c0004t0012	a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0002g0043 others(13): Show a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0005g0157 a0002c0002t0005g0159 a0002c0002t0005g0160 a0004c0004t0012g0158	24	398	0.0603	-33	c.-80 others(42): Show c.-807_-775delATATATATATATATATATATATATATATCCTAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		638		chr3	TogoVar
SMIM33_chr5_139466004_139478700	139476121	TAAGATGT others(26): Show TAAGATGTCAAGTCCTGGACCCTTCCCTGCAAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-33	c.32 others(44): Show c.3201_*3233delAAGATGTCAAGTCCTGGACCCTTCCCTGCAAGG	SMIM33	ENSG00000283288.2	transcript	ENST00000637503.2	protein_coding		2422		chr5	TogoVar
SMIM36_chr17_55444856_55516452	55505503	AAGGCCTT others(26): Show AAGGCCTTTGACAAAATACAACAACCTTCATGCT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	340	0.0029	-33	c.17 others(52): Show c.174+5343_*174+5375delAGCATGAAGGTTGTTGTATTTTGTCA AAGGCCT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMN1_chr5_70920087_70958015	70954870	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02896.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023	3	36	0.0833	-33	c.24 others(44): Show c.2436_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1856		chr5	TogoVar
SMOC1_chr14_69874416_70037366	69980093	GTTTACAG others(26): Show GTTTACAGTCAACAGTGAGCACCCTTTGTTCCCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0188 a0001c0001t0001g0192	2	270	0.0074	-33	c.526 others(50): Show c.526+2140_526+2172delCAGTGAGCACCCTTTGTTCCCTTTTACA GTCAA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMUG1_chr12_54175366_54193985	54188266	GAAATAAT others(26): Show GAAATAATAATAATAATAATAATAATAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	438	0.0023	-33	c.-10 others(50): Show c.-103-397_-103-365delTATTTATTATTATTATTATTATTATTAT TATTT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063240	TTTATATA others(26): Show TTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG02559.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0040 a0001c0001t0029 a0001c0001t0040	a0001c0001t0029g0099 a0001c0001t0040g0211 a0001c0001t0029g0099 a0001c0001t0040g0211	2	264	0.0076	-33	c.56- others(48): Show c.56-1436_56-1404delTATATATATATATATATATATATATATATA TAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SNAP29_chr22_20854007_20896214	20874317	GACACACA others(26): Show GACACACACACACACACACACACGAAAATTAGCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0276 a0001c0002t0071g0276	1	382	0.0026	-33	c.434 others(50): Show c.434+3807_434+3839delGAAAATTAGCCACACACACACACACACA CACAC	SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar

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