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
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(148): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0010	a0001c0002 a0001c0003 a0001c0006 others(10): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0017 a0001c0027 a0002c0001 a0002c0010 a0002c0023 a0003c0009 a0005c0015 a0009c0022 a0010c0024	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0015 a0001c0006t0001 a0001c0007t0002 a0001c0017t0010 a0001c0027t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0001t0016 a0002c0010t0002 a0002c0023t0002 a0003c0009t0001 a0005c0015t0001 a0009c0022t0008 a0010c0024t0001	a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0143 others(105): Show a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0229 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0228 a0001c0003t0001g0146 a0001c0003t0001g0251 a0001c0003t0002g0136 a0001c0003t0015g0256 a0001c0006t0001g0138 a0001c0007t0002g0232 a0001c0017t0010g0182 a0001c0027t0001g0008 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0011 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0041 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0053 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0109 a0002c0001t0001g0159 a0002c0001t0001g0180 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0275 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0308 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0001g0338 a0002c0001t0001g0342 a0002c0001t0002g0050 a0002c0001t0002g0051 a0002c0001t0002g0052 a0002c0001t0002g0098 a0002c0001t0002g0184 a0002c0001t0002g0289 a0002c0001t0002g0292 a0002c0001t0002g0295 a0002c0001t0002g0296 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0309 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0344 a0002c0001t0002g0345 a0002c0001t0006g0101 a0002c0001t0016g0285 a0002c0010t0002g0276 a0002c0010t0002g0277 a0002c0010t0002g0307 a0002c0023t0002g0284 a0003c0009t0001g0137 a0003c0009t0001g0258 a0005c0015t0001g0024 a0009c0022t0008g0237 a0010c0024t0001g0301	151	442	0.3416	-19	c.400 others(36): Show c.400-2395_400-2377delTTTTTTTTTTTTTTTTTTT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54188276	TAATAATA others(12): Show TAATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18943.hp2 HG02293.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0072 a0001c0001t0004g0150 a0001c0001t0002g0072 a0001c0001t0004g0150	2	438	0.0046	-19	c.-10 others(36): Show c.-103-393_-103-375delTATTATTATTATTATTATT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99146711	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02622.hp1 HG00140.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0035 a0001c0001t0014 a0001c0001t0035	a0001c0001t0014g0197 a0001c0001t0035g0196 a0001c0001t0014g0197 a0001c0001t0035g0196	2	264	0.0076	-19	c.-29 others(30): Show c.-2950_-2932delTTTTTTTTTTTTTTTTTTT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding		2604		chr7	TogoVar
SMURF2_chr17_64537282_64667307	64573202	AGGAGGAG others(12): Show AGGAGGAGGGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03669.hp1 HG03688.hp2 others(1): Show HG03654.hp1 HG03669.hp1 HG03688.hp2 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0009 a0004c0006t0009 a0001c0001t0009 a0004c0006t0009	a0001c0001t0009g0035 a0001c0001t0009g0038 a0001c0001t0009g0039 others(1): Show a0001c0001t0009g0035 a0001c0001t0009g0038 a0001c0001t0009g0039 a0004c0006t0009g0040	4	174	0.0230	-19	c.858 others(36): Show c.858-1265_858-1247delCCTCCTCCTCCCCTCCTCC	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18			chr17	TogoVar
SMYD1_chr2_88062825_88118384	88099830	TTTTCCTC others(12): Show TTTTCCTCTGGCTTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00639.hp2 others(63): Show HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18943.hp1 NA18953.hp2 NA18962.hp1 NA18972.hp2 NA18974.hp2 NA18982.hp2 NA18995.hp2 NA18997.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0001c0025 a0006c0024 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0011 a0001c0004t0016 a0001c0007t0002 a0001c0007t0005 a0001c0013t0001 a0001c0013t0002 a0001c0013t0023 a0001c0025t0003 a0006c0024t0003 a0009c0021t0003	a0001c0001t0001g0298 a0001c0001t0003g0102 a0001c0001t0003g0179 others(58): Show a0001c0001t0001g0298 a0001c0001t0003g0102 a0001c0001t0003g0179 a0001c0003t0001g0164 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0222 a0001c0003t0001g0268 a0001c0003t0001g0275 a0001c0003t0001g0282 a0001c0003t0002g0024 a0001c0003t0002g0069 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0175 a0001c0003t0002g0281 a0001c0003t0003g0007 a0001c0003t0003g0020 a0001c0003t0003g0066 a0001c0003t0003g0073 a0001c0003t0003g0076 a0001c0003t0003g0085 a0001c0003t0003g0092 a0001c0003t0003g0176 a0001c0003t0003g0178 a0001c0003t0003g0220 a0001c0003t0003g0225 a0001c0003t0003g0240 a0001c0003t0004g0063 a0001c0003t0004g0161 a0001c0003t0004g0162 a0001c0003t0004g0163 a0001c0003t0004g0286 a0001c0003t0004g0300 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0307 a0001c0004t0001g0044 a0001c0004t0001g0173 a0001c0004t0001g0246 a0001c0004t0001g0306 a0001c0004t0011g0250 a0001c0004t0016g0067 a0001c0007t0002g0018 a0001c0007t0002g0224 a0001c0007t0002g0233 a0001c0007t0005g0019 a0001c0007t0005g0060 a0001c0007t0005g0216 a0001c0007t0005g0232 a0001c0007t0005g0234 a0001c0007t0005g0235 a0001c0007t0005g0237 a0001c0013t0001g0017 a0001c0013t0001g0046 a0001c0013t0001g0236 a0001c0013t0002g0050 a0001c0013t0023g0017 a0001c0025t0003g0177 a0006c0024t0003g0068 a0009c0021t0003g0239	66	338	0.1953	-19	c.888 others(36): Show c.888+3059_888+3077delTCTCCCCTTTCCTCTGGCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMYD2_chr1_214276159_214342131	214293049	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	380	0.0026	-19	c.173 others(38): Show c.173+11624_173+11642delGTGTGTGTGTGTGTGTGTT	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245980085	TCACAGAT others(12): Show TCACAGATGAGGATGCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	150	0.0067	-19	c.532 others(38): Show c.532-50167_532-50149delCCCTGCATCCTCATCTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246096751	GATTGTAA others(12): Show GATTGTAACAAATGTTTATC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02647.hp1 others(5): Show HG02145.hp2 HG02258.hp2 HG02647.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp2 HG03579.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 a0002c0003 a0002c0004 a0002c0005	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001	a0002c0003t0001g0096 a0002c0003t0001g0108 a0002c0003t0001g0141 others(5): Show a0002c0003t0001g0096 a0002c0003t0001g0108 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0004t0001g0107 a0002c0004t0001g0129 a0002c0004t0002g0139 a0002c0005t0001g0142	8	150	0.0533	-19	c.532 others(40): Show c.532-166833_532-166815delGATAAACATTTGTTACAAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246101064	GTTTTTTG others(12): Show GTTTTTTGTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	150	0.0067	-19	c.532 others(40): Show c.532-171146_532-171128delAAAAAAAAAAAACAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246282305	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(31): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01175.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG03017.hp1 HG03491.hp1 HG03831.hp2 HG04228.hp1 NA18747.hp1 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19088.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0011t0002 a0002c0003t0001 a0002c0003t0002 a0005c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0046 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0062 a0001c0002t0001g0073 a0001c0002t0002g0037 a0001c0002t0002g0084 a0001c0009t0001g0002 a0001c0011t0002g0049 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0105 a0002c0003t0001g0109 a0002c0003t0002g0104 a0005c0015t0002g0094	34	150	0.2267	-19	c.531 others(38): Show c.531+44877_531+44895delTTTTTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246469584	TAATGGAA others(12): Show TAATGGAACAAATAGGAACC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0118 a0002c0005t0002g0118	1	150	0.0067	-19	c.164 others(38): Show c.164+37451_164+37469delGGTTCCTATTTGTTCCATT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAP29_chr22_20854007_20896214	20887951	TTATAATA others(12): Show TTATAATAGAGTAGGTCTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0216 a0001c0002t0061g0216	1	382	0.0026	-19	c.11 others(28): Show c.116_*134delTATAATAGAGTAGGTCTTA	SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	5/5	116		chr22	TogoVar
SNAP47_chr1_227730435_227786226	227751744	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03195.hp1 others(3): Show HG02258.hp1 HG02922.hp1 HG03195.hp1 HG03710.hp2 NA19043.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0074 a0002c0002t0001g0075 others(1): Show a0002c0002t0001g0003 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0156	6	396	0.0152	-19	c.497 others(36): Show c.497+3530_497+3548delTTTTTTTTTTTTTTTTTTT	SNAP47	ENSG00000143740.15	transcript	ENST00000617596.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNAPC1_chr14_61757420_61801428	61796998	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	356	0.0028	-19	c.20 others(30): Show c.2016_*2034delTTTTTTTTTTTTTTTTTTT	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding		571		chr14	TogoVar
SNAPC3_chr9_15417876_15466626	15449551	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0280 a0001c0002t0006g0280	1	308	0.0033	-19	c.733 others(36): Show c.733-1767_733-1749delATATATATATATTTTTTTT	SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNAPC3_chr9_15417876_15466626	15449555	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp2 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0020 a0001c0002t0006g0022 a0001c0002t0006g0020 a0001c0002t0006g0022	2	308	0.0065	-19	c.733 others(36): Show c.733-1763_733-1745delATATATATTTTTTTTTTTT	SNAPC3	ENSG00000164975.16	transcript	ENST00000380821.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136399955	CGCGCCCA others(12): Show CGCGCCCAGGCTCGGCCGGA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	2	380	0.0053	-19	c.-10 others(34): Show c.-10+160_-10+178delTCCGGCCGAGCCTGGGCGC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding	1/23			chr9	TogoVar
SNCAIP_chr5_122307237_122469219	122351536	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0138 a0006c0011t0001g0138	1	222	0.0045	-19	c.-47 others(38): Show c.-47+39264_-47+39282delAAAAAAAAAAAAAAAAAAA	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SND1_chr7_127647194_128097593	127932680	CACAGCCA others(12): Show CACAGCCACCACCTCCATCA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01169.hp1 others(15): Show HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01496.hp1 HG01515.hp2 HG02004.hp1 HG02071.hp2 HG02080.hp1 HG02602.hp2 HG02735.hp2 NA18939.hp1 NA18941.hp1 NA18966.hp1 NA18980.hp2 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0144 others(15): Show a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0151	18	262	0.0687	-19	c.166 others(38): Show c.1669+3352_1669+3370delACAGCCACCACCTCCATCA	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23			chr7	TogoVar
SND1_chr7_127647194_128097593	127994549	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	262	0.0038	-19	c.177 others(38): Show c.1779+3511_1779+3529delAAAAAAAAAAAAAAAAAAA	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNN_chr16_11663455_11684152	11677597	GTGGTGAG others(12): Show GTGGTGAGCTGGTGGCTCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02559.hp2 others(12): Show HG01261.hp2 HG01891.hp2 HG02559.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	15	440	0.0341	-19	c.12 others(30): Show c.1281_*1299delGGTGGCTCTCTGGTGAGCT	SNN	ENSG00000184602.6	transcript	ENST00000329565.6	protein_coding	2/2	1281	INFO_REALIGN_3_PRIME	chr16	TogoVar
SNPH_chr20_1261294_1314327	1303122	CCCCACAC others(12): Show CCCCACACTCTCTCCATATG	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0278 a0001c0001t0028g0278	1	350	0.0029	-19	c.441 others(36): Show c.441-1755_441-1737delCCCACACTCTCTCCATATG	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6			chr20	TogoVar
SNRK_chr3_43281540_43356143	43333358	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG00639.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0021	2	258	0.0078	-19	c.731 others(36): Show c.731+1059_731+1077delAAAAAAAAAAAAAAAAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02280.hp2 NA18522.hp1 others(2): Show HG01243.hp2 HG02280.hp2 NA18522.hp1 NA19070.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0002c0003t0002 a0001c0001t0002 a0001c0001t0007 a0002c0003t0002	a0001c0001t0002g0002 a0001c0001t0007g0005 a0002c0003t0002g0002 a0001c0001t0002g0002 a0001c0001t0007g0005 a0002c0003t0002g0002	5	424	0.0118	-19	c.-15 others(30): Show c.-1570_-1552delAAAAAAAAAAAAAAAAAAA	SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding		1381		chr16	TogoVar
SNRPA_chr19_40746203_40770389	40764094	TGCCTGGC others(12): Show TGCCTGGCGTCAGGGTGGAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03098.hp1 others(3): Show HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 others(3): Show a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233	6	412	0.0146	-19	c.689 others(34): Show c.689+423_689+441delTGGCGTCAGGGTGGAGGCC	SNRPA	ENSG00000077312.9	transcript	ENST00000243563.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNRPD1_chr18_21607314_21638520	21626454	GTTTCAAG others(12): Show GTTTCAAGTTTGTCATAGTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	358	0.0028	-19	c.283 others(36): Show c.283+2517_283+2535delTTCAAGTTTGTCATAGTCT	SNRPD1	ENSG00000167088.11	transcript	ENST00000300413.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
SNRPD3_chr22_24550999_24579971	24560428	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0237	1	400	0.0025	-19	c.126 others(36): Show c.126+2648_126+2666delTTTTTTTTTTTTTTTTTTT	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNRPG_chr2_70276362_70298740	70291621	GTGTAAAA others(12): Show GTGTAAAAGAAGATGCTATC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18990.hp1 NA18966.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0092 a0001c0001t0003g0093	2	424	0.0047	-19	c.32+ others(34): Show c.32+1978_32+1996delGATAGCATCTTCTTTTACA	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	1/3			chr2	TogoVar
SNRPN_chr15_24949987_24983723	24958486	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0059 a0001c0001t0004g0060	2	346	0.0058	-19	c.-39 others(38): Show c.-391+3440_-391+3458delTTTTTTTTTTTTTTTTTTT	SNRPN	ENSG00000128739.23	transcript	ENST00000390687.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNTA1_chr20_33402957_33448763	33429334	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18971.hp2 NA18973.hp2 NA18939.hp1 NA18971.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256	3	354	0.0085	-19	c.496 others(36): Show c.496+9488_496+9506delTTTTTTTTTTTTTTTTTTT	SNTA1	ENSG00000101400.6	transcript	ENST00000217381.3	protein_coding	2/7			chr20	TogoVar
SNTB1_chr8_120530756_120817046	120561322	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0236 a0001c0002t0006g0236	1	254	0.0039	-19	c.113 others(40): Show c.1137-12383_1137-12365delCTTTTTTTTTTTTTTTTTT	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	4/6			chr8	TogoVar
SNTB1_chr8_120530756_120817046	120794570	GATAATCT others(12): Show GATAATCTTGTTAATTAGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01167.hp2 others(27): Show HG00099.hp2 HG00140.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03688.hp2 NA18522.hp2 NA20129.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0003c0004 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0006t0001 a0001c0007t0001 a0001c0007t0005 a0003c0004t0001 a0007c0012t0001	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0175 a0001c0001t0001g0209 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0111 a0001c0001t0004g0052 a0001c0001t0005g0057 a0001c0001t0006g0020 a0001c0001t0006g0024 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0008g0058 a0001c0001t0011g0023 a0001c0001t0020g0210 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0249 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0006g0236 a0001c0002t0006g0240 a0001c0006t0001g0056 a0001c0007t0001g0237 a0001c0007t0005g0248 a0003c0004t0001g0253 a0007c0012t0001g0242	30	254	0.1181	-19	c.571 others(38): Show c.571+16684_571+16702delAACTAATTAACAAGATTAT	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	1/6			chr8	TogoVar
SNTB1_chr8_120530756_120817046	120800850	AGCCTGAT others(12): Show AGCCTGATTTAGCTAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02615.hp1 others(5): Show HG02109.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02976.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0005g0221 others(5): Show a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0005g0221 a0002c0003t0001g0227 a0002c0003t0001g0230 a0002c0003t0001g0232 a0002c0003t0002g0229 a0002c0003t0005g0228	8	254	0.0315	-19	c.571 others(38): Show c.571+10404_571+10422delATTATTAGCTAAATCAGGC	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	1/6			chr8	TogoVar
SNTB2_chr16_69182164_69314052	69292377	TATTATAT others(12): Show TATTATATATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01993.hp1 HG02055.hp1 others(1): Show HG00621.hp2 HG01993.hp1 HG02055.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0041	a0001c0001t0001g0163 a0001c0001t0003g0081 a0001c0001t0010g0142 others(1): Show a0001c0001t0001g0163 a0001c0001t0003g0081 a0001c0001t0010g0142 a0001c0001t0041g0080	4	218	0.0184	-19	c.134 others(38): Show c.1346-7212_1346-7194delATTATATATATATTATATA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6			chr16	TogoVar
SNTB2_chr16_69182164_69314052	69310070	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	218	0.0046	-19	c.91 others(30): Show c.9147_*9165delTTTTTTTTTTTTTTTTTTT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding		1019		chr16	TogoVar
SNTG1_chr8_49906407_50801692	50484121	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0034 a0001c0001t0037g0034	1	106	0.0094	-19	c.364 others(38): Show c.364-18654_364-18636delCTTTCTTTCTTTCCTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50609597	ATTTCTTT others(12): Show ATTTCTTTGAATAATAATGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG02622.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0043 a0002c0003t0018 a0002c0003t0043	a0002c0003t0018g0045 a0002c0003t0043g0050 a0002c0003t0018g0045 a0002c0003t0043g0050	2	106	0.0189	-19	c.849 others(38): Show c.849+18682_849+18700delTTCTTTGAATAATAATGTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1038770	GTTTTTAT others(12): Show GTTTTTATTATTTAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02280.hp1 others(9): Show HG01109.hp2 HG01891.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03654.hp2 HG04115.hp2 NA18969.hp2 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0017 a0022	a0001c0001 a0001c0002 a0002c0005 others(7): Show a0001c0001 a0001c0002 a0002c0005 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0007c0016 a0017c0031 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0002 a0005c0015t0001 a0007c0016t0001 a0017c0031t0001 a0022c0021t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0102 others(9): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0002t0001g0112 a0002c0005t0001g0101 a0003c0007t0001g0104 a0003c0008t0001g0100 a0004c0004t0002g0074 a0005c0015t0001g0103 a0007c0016t0001g0005 a0017c0031t0001g0110 a0022c0021t0001g0111	12	190	0.0632	-19	c.73- others(36): Show c.73-44747_73-44729delTTTTTATTATTTAAAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1149687	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18986.hp1 NA19043.hp2 others(1): Show HG00438.hp1 NA18986.hp1 NA19043.hp2 NA20129.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0002 a0002c0003 a0007c0016 others(1): Show a0001c0002 a0002c0003 a0007c0016 a0008c0011	a0001c0002t0002 a0002c0003t0001 a0007c0016t0001 others(1): Show a0001c0002t0002 a0002c0003t0001 a0007c0016t0001 a0008c0011t0001	a0001c0002t0002g0002 a0002c0003t0001g0093 a0007c0016t0001g0033 others(1): Show a0001c0002t0002g0002 a0002c0003t0001g0093 a0007c0016t0001g0033 a0008c0011t0001g0128	4	190	0.0211	-19	c.411 others(38): Show c.411+11879_411+11897delTTTTTTTTTTTTTTTTTTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16			chr2	TogoVar
SNURF_chr15_24949987_24973821	24958486	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0066 a0001c0002t0008g0067 a0001c0002t0001g0066 a0001c0002t0008g0067	2	386	0.0052	-19	c.14+ others(34): Show c.14+3440_14+3458delTTTTTTTTTTTTTTTTTTT	SNURF	ENSG00000273173.6	transcript	ENST00000577949.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX16_chr8_81794583_81847185	81842536	AAACGAGC others(12): Show AAACGAGCGAGGGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	306	0.0033	-19	c.-53 others(28): Show c.-530_-512delGCTCTCTCCCTCGCTCGTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		352		chr8	TogoVar
SNX27_chr1_151607050_151704080	151675716	ATGATGCT others(12): Show ATGATGCTGTGATTAACTCT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0234 a0001c0001t0050g0234	1	366	0.0027	-19	c.114 others(38): Show c.1149+7084_1149+7102delATGCTGTGATTAACTCTTG	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151675810	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	366	0.0027	-19	c.114 others(38): Show c.1149+7192_1149+7210delTTTTTTTTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03491.hp1 HG03704.hp2 others(3): Show HG02922.hp2 HG03491.hp1 HG03704.hp2 NA18971.hp2 NA19057.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0063 a0001c0001t0001 a0001c0001t0004 a0001c0001t0063	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0004g0342 a0001c0001t0063g0055	6	366	0.0164	-19	c.115 others(38): Show c.1150-7051_1150-7033delTTTTTTTTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12013499	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0014 a0001c0001t0030g0014	1	176	0.0057	-19	c.122 others(38): Show c.122+10458_122+10476delATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12087307	AGAATCGC others(12): Show AGAATCGCTTGGAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(38): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02622.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG03710.hp2 HG04115.hp2 HG06807.hp2 NA18969.hp1 NA18983.hp2 NA18986.hp2 NA19009.hp1 NA19060.hp1 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0001c0021 a0003c0008 a0004c0009 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0046 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0102 a0001c0001t0110 a0001c0001t0112 a0001c0002t0003 a0001c0002t0005 a0001c0002t0024 a0001c0002t0082 a0001c0002t0089 a0001c0002t0106 a0001c0006t0010 a0001c0018t0007 a0001c0021t0111 a0003c0008t0010 a0004c0009t0001 a0008c0019t0019	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0127 others(38): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0002g0020 a0001c0001t0002g0081 a0001c0001t0002g0169 a0001c0001t0004g0157 a0001c0001t0006g0031 a0001c0001t0006g0064 a0001c0001t0007g0175 a0001c0001t0009g0090 a0001c0001t0009g0111 a0001c0001t0012g0009 a0001c0001t0012g0056 a0001c0001t0014g0099 a0001c0001t0015g0085 a0001c0001t0026g0062 a0001c0001t0035g0087 a0001c0001t0036g0030 a0001c0001t0041g0046 a0001c0001t0046g0047 a0001c0001t0058g0107 a0001c0001t0059g0040 a0001c0001t0063g0039 a0001c0001t0102g0001 a0001c0001t0110g0162 a0001c0001t0112g0139 a0001c0002t0003g0051 a0001c0002t0005g0168 a0001c0002t0024g0050 a0001c0002t0082g0006 a0001c0002t0089g0072 a0001c0002t0106g0123 a0001c0006t0010g0041 a0001c0018t0007g0057 a0001c0021t0111g0035 a0003c0008t0010g0145 a0004c0009t0001g0043 a0008c0019t0019g0067	41	176	0.2330	-19	c.140 others(38): Show c.1402+8403_1402+8421delGAGGCAGGCGAATCGCTTG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12089108	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(42): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18969.hp1 NA18983.hp2 NA18986.hp2 NA19009.hp1 NA19060.hp1 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0018 a0001c0021 a0003c0008 a0004c0009 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0046 a0001c0001t0058 a0001c0001t0063 a0001c0001t0102 a0001c0001t0110 a0001c0001t0112 a0001c0002t0003 a0001c0002t0005 a0001c0002t0024 a0001c0002t0082 a0001c0002t0089 a0001c0002t0106 a0001c0004t0080 a0001c0006t0010 a0001c0006t0068 a0001c0007t0002 a0001c0007t0064 a0001c0018t0007 a0001c0021t0111 a0003c0008t0010 a0004c0009t0001 a0008c0019t0019	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0127 others(42): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0002g0020 a0001c0001t0002g0081 a0001c0001t0002g0169 a0001c0001t0004g0157 a0001c0001t0006g0031 a0001c0001t0006g0064 a0001c0001t0007g0175 a0001c0001t0009g0090 a0001c0001t0009g0111 a0001c0001t0012g0009 a0001c0001t0012g0056 a0001c0001t0014g0099 a0001c0001t0015g0085 a0001c0001t0026g0062 a0001c0001t0035g0087 a0001c0001t0036g0030 a0001c0001t0041g0046 a0001c0001t0046g0047 a0001c0001t0058g0107 a0001c0001t0063g0039 a0001c0001t0102g0001 a0001c0001t0110g0162 a0001c0001t0112g0139 a0001c0002t0003g0051 a0001c0002t0005g0168 a0001c0002t0024g0050 a0001c0002t0024g0128 a0001c0002t0082g0006 a0001c0002t0089g0072 a0001c0002t0106g0123 a0001c0004t0080g0054 a0001c0006t0010g0041 a0001c0006t0068g0003 a0001c0007t0002g0004 a0001c0007t0064g0113 a0001c0018t0007g0057 a0001c0021t0111g0035 a0003c0008t0010g0145 a0004c0009t0001g0043 a0008c0019t0019g0067	45	176	0.2557	-19	c.140 others(40): Show c.1402+10218_1402+10236delGAGAGAGAGAGAAAAGAGA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12220152	AAGAATGT others(12): Show AAGAATGTGTGTTATTTCAC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0059 a0001c0002t0067g0059	1	176	0.0057	-19	c.167 others(40): Show c.1678+20473_1678+20491delATGTGTGTTATTTCACAGA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12380838	CCCACCCA others(12): Show CCCACCCACCATCTATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(51): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02886.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18522.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0014 a0001c0015 a0001c0022 a0001c0023 a0001c0025 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047 a0001c0001t0059 a0001c0001t0102 a0001c0001t0110 a0001c0002t0003 a0001c0002t0005 a0001c0002t0065 a0001c0002t0069 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0090 a0001c0002t0109 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0057 a0001c0003t0060 a0001c0003t0103 a0001c0003t0104 a0001c0004t0003 a0001c0004t0021 a0001c0004t0071 a0001c0004t0080 a0001c0004t0084 a0001c0004t0105 a0001c0012t0002 a0001c0014t0015 a0001c0015t0003 a0001c0022t0049 a0001c0023t0008 a0001c0025t0096 a0002c0005t0039 a0005c0011t0009	a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0002g0020 others(51): Show a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0002g0020 a0001c0001t0004g0078 a0001c0001t0014g0099 a0001c0001t0015g0085 a0001c0001t0017g0025 a0001c0001t0031g0143 a0001c0001t0032g0130 a0001c0001t0034g0063 a0001c0001t0041g0046 a0001c0001t0046g0047 a0001c0001t0047g0155 a0001c0001t0059g0040 a0001c0001t0102g0001 a0001c0001t0110g0162 a0001c0002t0003g0051 a0001c0002t0003g0134 a0001c0002t0003g0152 a0001c0002t0003g0160 a0001c0002t0005g0002 a0001c0002t0005g0032 a0001c0002t0005g0084 a0001c0002t0005g0168 a0001c0002t0065g0136 a0001c0002t0069g0017 a0001c0002t0073g0096 a0001c0002t0075g0129 a0001c0002t0076g0100 a0001c0002t0090g0170 a0001c0002t0109g0036 a0001c0003t0001g0103 a0001c0003t0001g0154 a0001c0003t0004g0176 a0001c0003t0006g0144 a0001c0003t0057g0105 a0001c0003t0060g0093 a0001c0003t0103g0079 a0001c0003t0104g0156 a0001c0004t0003g0138 a0001c0004t0003g0161 a0001c0004t0021g0080 a0001c0004t0071g0109 a0001c0004t0080g0054 a0001c0004t0084g0135 a0001c0004t0105g0042 a0001c0012t0002g0028 a0001c0014t0015g0165 a0001c0015t0003g0166 a0001c0022t0049g0061 a0001c0023t0008g0110 a0001c0025t0096g0076 a0002c0005t0039g0013 a0005c0011t0009g0116	54	176	0.3068	-19	c.190 others(40): Show c.1900-17576_1900-17558delTATCCATCCACCCACCATC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12381062	TACCCACC others(12): Show TACCCACCTACCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp1 HG02258.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0107 a0001c0002t0070 a0001c0002t0107	a0001c0002t0070g0044 a0001c0002t0107g0069 a0001c0002t0070g0044 a0001c0002t0107g0069	2	176	0.0114	-19	c.190 others(40): Show c.1900-17376_1900-17358delTACCATCCATCCACCCACC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar

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