Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC9A5_chr16_67243979_67277191	67268682	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	202	0.0050	-30	c.221 others(49): Show c.2219-2054_2219-2025delATATATATATATATATATATATATAT ATTT	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A6_chrX_135980435_136052269	136043678	TCAGATAA others(23): Show TCAGATAATACAGAAACATAAAGAAGAAAAG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	197	0.0051	-30	c.176 others(47): Show c.1768-773_1768-744delCAGATAATACAGAAACATAAAGAAGAAA AG	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	17/17			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49834405	GTATATAT others(23): Show GTATATATATATACTGTATATATATACTGTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00738.hp2 others(46): Show HG00544.hp2 HG00558.hp2 HG00738.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02293.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp1 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0032 a0001c0001t0002 a0001c0001t0025 a0001c0001t0032	a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 others(46): Show a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0025g0019 a0001c0001t0032g0051	49	322	0.1522	-30	c.290 others(47): Show c.290-5123_290-5094delCTGTATATATATACTGTATATATATATA TA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9C1_chr3_112135898_112299216	112150769	CATATATA others(23): Show CATATATATATATAAATACATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	277	0.0036	-30	c.352 others(49): Show c.3524+1058_3524+1087delATATATGTATATGTATTTATATATAT ATAT	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	28/28			chr3	TogoVar
SLCO1C1_chr12_20690332_20758386	20724407	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	260	0.0038	-30	c.118 others(49): Show c.1186+1155_1186+1184delGTGTATATATATATATATATATATAT ATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO6A1_chr5_102366774_102504001	102460899	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01928.hp2 HG00408.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0219 a0001c0001t0001g0182 a0001c0001t0001g0219	2	21	0.0952	-30	c.900 others(47): Show c.900-1152_900-1123delATATATATATATATATATATATATATAT AT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	4/13			chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35530417	GGAAGGAA others(23): Show GGAAGGAAGGAAGGGAAGGGAAGGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03490.hp1 NA18946.hp1 others(1): Show HG02155.hp2 HG03490.hp1 NA18946.hp1 NA18955.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0004 others(1): Show a0001c0001 a0001c0002 a0004c0004 a0005c0006	a0001c0001t0006 a0001c0002t0026 a0004c0004t0003 others(1): Show a0001c0001t0006 a0001c0002t0026 a0004c0004t0003 a0005c0006t0005	a0001c0001t0006g0199 a0001c0002t0026g0187 a0004c0004t0003g0200 others(1): Show a0001c0001t0006g0199 a0001c0002t0026g0187 a0004c0004t0003g0200 a0005c0006t0005g0198	4	333	0.0120	-30	c.-60 others(49): Show c.-606+7126_-606+7155delTTTCTTCCCTTCCCTTCCCTTCCTTC CTTC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530421	GGAAGGAA others(23): Show GGAAGGAAGGGAAGGGAAGGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0186 a0002c0017t0001g0186	1	335	0.0030	-30	c.-60 others(49): Show c.-606+7122_-606+7151delTTTCTTTCTTCCCTTCCCTTCCCTTC CTTC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLIT2_chr4_20246905_20625561	20291468	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0166 a0001c0002t0013g0166	1	219	0.0046	-30	c.395 others(49): Show c.395+22589_395+22618delATATATATATATATATATATATATTT TTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291472	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19082.hp1 HG02451.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0007 a0001c0006t0042 a0001c0002t0007 a0001c0006t0042	a0001c0002t0007g0177 a0001c0006t0042g0084 a0001c0002t0007g0177 a0001c0006t0042g0084	2	195	0.0103	-30	c.395 others(49): Show c.395+22593_395+22622delATATATATATATATATATATTTTTTT TTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291478	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0050 a0001c0003t0003g0050	1	216	0.0046	-30	c.395 others(49): Show c.395+22599_395+22628delATATATATATATATTTTTTTTTTTTT TTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291912	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0222 a0001c0003t0010g0222	1	228	0.0044	-30	c.395 others(49): Show c.395+23040_395+23069delTGTGTGTGTGTGTGTGTGTGCATGTG TGTG	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20463448	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0158 a0001c0001t0051g0158	1	46	0.0217	-30	c.396 others(47): Show c.396-4289_396-4260delATATATATATATATATATATATATATAT AT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	169207370	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0082 a0002c0002t0005g0082	1	81	0.0123	-30	c.342 others(49): Show c.342-13850_342-13821delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	3/35			chr5	TogoVar
SLITRK4_chrX_143617790_143641101	143640825	TTATATAT others(23): Show TTATATATACATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(5): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03486.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0004 a0001c0002 a0005c0004	a0001c0002t0004 a0001c0002t0007 a0001c0002t0048 others(1): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0048 a0005c0004t0052	a0001c0002t0004g0006 a0001c0002t0004g0057 a0001c0002t0007g0011 others(4): Show a0001c0002t0004g0006 a0001c0002t0004g0057 a0001c0002t0007g0011 a0001c0002t0007g0024 a0001c0002t0007g0056 a0001c0002t0048g0053 a0005c0004t0052g0054	8	330	0.0242	-30	c.-51 others(41): Show c.-5171_-5142delTATATATATATATATATATATGTATATATA	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding		4725		chrX	TogoVar
SLX9_chr21_44935029_44981973	44948303	GGTCCGGG others(23): Show GGTCCGGGGAGCTGGTCGTGGAGCATCGGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	332	0.0030	-30	c.283 others(47): Show c.283+4513_283+4542delGTGGAGCATCGGGCGTCCGGGGAGCTGG TC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44979458	CCGTGGAA others(23): Show CCGTGGAAGGACAGCGACAGGTACTTGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	332	0.0030	-30	c.26 others(41): Show c.2656_*2685delCGTGGAAGGACAGCGACAGGTACTTGGCCG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		2486		chr21	TogoVar
SMARCA1_chrX_129441506_129528490	129479653	ATATTTTA others(23): Show ATATTTTATTTTATTTTATTTTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01070.hp2 others(70): Show HG00438.hp1 HG00558.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01346.hp2 HG01496.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG03540.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0107 others(63): Show a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0136 a0001c0001t0001g0172 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0259 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066	73	145	0.5034	-30	c.244 others(49): Show c.2442+1018_2442+1047delAAATAAAATAAAATAAAATAAAATAA AATA	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	19/24			chrX	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01099.hp1 others(17): Show HG00323.hp1 HG00735.hp2 HG01099.hp1 HG01358.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03688.hp1	a0001 a0010 a0012 others(1): Show a0001 a0010 a0012 a0013	a0001c0004 a0010c0019 a0012c0021 others(1): Show a0001c0004 a0010c0019 a0012c0021 a0013c0020	a0001c0004t0004 a0001c0004t0007 a0001c0004t0016 others(3): Show a0001c0004t0004 a0001c0004t0007 a0001c0004t0016 a0010c0019t0004 a0012c0021t0007 a0013c0020t0004	a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 others(17): Show a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0022 a0001c0004t0004g0024 a0001c0004t0004g0026 a0001c0004t0007g0007 a0001c0004t0007g0008 a0001c0004t0007g0010 a0001c0004t0007g0011 a0001c0004t0016g0006 a0010c0019t0004g0023 a0012c0021t0007g0009 a0013c0020t0004g0025	20	82	0.2439	-30	c.621 others(47): Show c.6219+925_6219+954delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2236701	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0133	1	16	0.0625	-30	c.272 others(45): Show c.2724-94_2724-65delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168400	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGGAAAAGAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-30	c.-29 others(41): Show c.-2956_-2927delAAAGAAAGAAAGAAAGAAAGGAAAAGAAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2793		chr12	TogoVar
SMIM14_chr4_39541336_39643865	39619612	CAATAAAT others(23): Show CAATAAATATAATTTATTCTATATATCAATA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02965.hp1 HG02897.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0301 a0001c0001t0007g0250 a0001c0001t0003g0301 a0001c0001t0007g0250	2	342	0.0058	-30	c.-35 others(49): Show c.-35-14462_-35-14433delTATTGATATATAGAATAAATTATATT TATT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(23): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18522.hp1 NA18975.hp1 others(1): Show HG03834.hp1 NA18522.hp1 NA18975.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0112 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0112	4	5	0.8000	-30	c.17 others(41): Show c.1756_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM5_chr17_75628434_75646404	75635044	GCCCTGTC others(23): Show GCCCTGTCCTCAAGCCAGCGTTAAAGCCACC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	410	0.0024	-30	c.-37 others(45): Show c.-37+843_-37+872delCCCTGTCCTCAAGCCAGCGTTAAAGCCACC	SMIM5	ENSG00000204323.5	transcript	ENST00000375215.3	protein_coding	1/2			chr17	TogoVar
SMIM8_chr6_87317588_87347329	87347048	GCCATCAC others(23): Show GCCATCACCACAATCACAACATGGAGCTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0119 a0001c0002t0003g0119	1	418	0.0024	-30	c.67 others(41): Show c.6775_*6804delCCATCACCACAATCACAACATGGAGCTGTT	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding		4720		chr6	TogoVar
SMN1_chr5_70920087_70958015	70954873	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG03486.hp2 HG02258.hp2 HG02572.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0001g0011 a0001c0001t0002g0008 a0001c0001t0002g0027	3	36	0.0833	-30	c.24 others(41): Show c.2439_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1859		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168538616	CTGGGGGA others(23): Show CTGGGGGAGTGGGGTGACCGCTGCTGGAATG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02922.hp1 others(1): Show HG01891.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0002t0007 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0005t0001 a0002c0010t0001	a0001c0001t0001g0127 a0001c0002t0007g0053 a0001c0005t0001g0126 others(1): Show a0001c0001t0001g0127 a0001c0002t0007g0053 a0001c0005t0001g0126 a0002c0010t0001g0130	4	152	0.0263	-30	c.464 others(47): Show c.464-4979_464-4950delGTGGGGGAGTGGGGTGACCGCTGCTGGA AT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168538776	CAGAGCGA others(23): Show CAGAGCGACCCCTGCTGGAATCTGGGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA21309.hp1 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0008 a0001c0011t0006 a0001c0002t0008 a0001c0011t0006	a0001c0002t0008g0045 a0001c0011t0006g0167 a0001c0002t0008g0045 a0001c0011t0006g0167	2	178	0.0112	-30	c.464 others(47): Show c.464-4848_464-4819delAGAGCGACCCCTGCTGGAATCTGGGGGA GT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168538781	CGACCCCT others(23): Show CGACCCCTGCTGGAATCTGGGGGAGTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	178	0.0056	-30	c.464 others(47): Show c.464-4804_464-4775delTGGAATCTGGGGGAGTGGGGTGACCCCT GC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168613940	AGGGCCTC others(23): Show AGGGCCTCTTCACACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02630.hp1 HG01346.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0146 a0001c0005t0001g0162 a0001c0001t0001g0146 a0001c0005t0001g0162	2	176	0.0114	-30	c.907 others(47): Show c.907+5733_907+5762delGGCCTCTTCACACCTACAGCCAGCACAG GG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615084	AGGGCCTC others(23): Show AGGGCCTCTTCACACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG02293.hp2 others(8): Show HG01346.hp1 HG02135.hp1 HG02293.hp2 HG02976.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0133 others(8): Show a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0031	11	178	0.0618	-30	c.907 others(47): Show c.907+6855_907+6884delCACACCTACAGCCAGCACAGGGGGCCTC TT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615340	AGGGCCTC others(23): Show AGGGCCTCTTCACACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	117	0.0085	-30	c.907 others(47): Show c.907+7133_907+7162delGGCCTCTTCACACCTACAGCCAGCACAG GG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615398	AGGGCCTC others(23): Show AGGGCCTCTTCACACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0167 a0001c0011t0006g0167	1	177	0.0056	-30	c.907 others(47): Show c.907+7191_907+7220delGGCCTCTTCACACCTACAGCCAGCACAG GG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615702	CACCTACA others(23): Show CACCTACAGCCAGCACAGGGGGCCTCTTCAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01496.hp1 others(3): Show HG00738.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0001t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0096 a0001c0002t0002g0023 a0001c0002t0002g0024 others(3): Show a0001c0001t0001g0096 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0005g0069	6	178	0.0337	-30	c.907 others(47): Show c.907+7483_907+7512delGGCCTCTTCATACCTACAGCCAGCACAG GG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOX_chr20_4143828_4192727	4168883	CTATTTTA others(23): Show CTATTTTATTTTATTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01884.hp1 others(33): Show HG00609.hp2 HG00735.hp1 HG01884.hp1 HG01891.hp2 HG02040.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02717.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp2 NA18943.hp2 NA18949.hp1 NA18960.hp1 NA18975.hp2 NA18977.hp2 NA18984.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19065.hp1 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0183 others(31): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0183 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0312 a0001c0002t0001g0332 a0001c0002t0001g0339 a0001c0003t0001g0014 a0001c0003t0001g0159 a0001c0003t0001g0176 a0001c0003t0001g0186 a0001c0003t0001g0215 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0295 a0001c0003t0001g0307 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0006t0001g0181 a0001c0007t0001g0182 a0001c0008t0001g0025	36	101	0.3564	-30	c.-26 others(47): Show c.-26-6108_-26-6079delTTTATTTTATTTTATTTTATTTTATTTT AT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMPD1_chr11_6385474_6399996	6387249	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG03453.hp1 HG02257.hp2 HG02965.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0012 a0004c0006t0002g0012	3	70	0.0429	-30	c.-33 others(41): Show c.-3349_-3320delATATATATATATATATATATATATATATAT	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding		3224		chr11	TogoVar
SMTN_chr22_31076318_31109624	31084178	GGGGCAGG others(23): Show GGGGCAGGGCTCCTTCCCCAACCCCAAAGGC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0172 a0016c0016t0001g0172	1	360	0.0028	-30	c.51+ others(43): Show c.51+870_51+899delGGGCAGGGCTCCTTCCCCAACCCCAAAGGC	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding	2/20			chr22	TogoVar
SMURF1_chr7_99022440_99149108	99059402	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02486.hp1 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0019 a0001c0004t0017g0146 a0001c0004t0017g0019 a0001c0004t0017g0146	2	56	0.0357	-30	c.203 others(47): Show c.203+1167_203+1196delATTTTATTTTATTTTATTTTATTTTATT TT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	3/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(23): Show TTATTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0004 a0001c0003t0022g0004	1	166	0.0060	-30	c.56- others(45): Show c.56-1430_56-1401delTATATATATATATATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0200 a0001c0001t0037g0200	1	120	0.0083	-30	c.56- others(45): Show c.56-1434_56-1405delTATATATATATATATATATATATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64613672	CAGTGTGT others(23): Show CAGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0150 a0001c0001t0028g0150	1	168	0.0060	-30	c.53- others(45): Show c.53-7062_53-7033delCACACACACACACACACACACACACACACT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SNAP91_chr6_83547885_83714101	83610718	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02647.hp2 others(1): Show HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0022 a0001c0004 a0007c0022	a0001c0004t0001 a0001c0004t0011 a0007c0022t0001 a0001c0004t0001 a0001c0004t0011 a0007c0022t0001	a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0011g0029 others(1): Show a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0011g0029 a0007c0022t0001g0032	4	364	0.0110	-30	c.885 others(43): Show c.885-71_885-42delTTATATATATATATATATATATATATATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	11/29			chr6	TogoVar
SNAPC2_chr19_7915338_7928250	7924372	TGGCCCTC others(23): Show TGGCCCTCGGTCTCCTGGCCTGTAGAATAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	-30	c.16 others(41): Show c.1609_*1638delGGCCCTCGGTCTCCTGGCCTGTAGAATAGG	SNAPC2	ENSG00000104976.13	transcript	ENST00000221573.11	protein_coding		1123		chr19	TogoVar
SND1_chr7_127647194_128097593	127705570	AAGATGTA others(23): Show AAGATGTAGATGCAGATGTAGATGTAGATGT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19030.hp2 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0001t0001g0118 a0001c0001t0001g0168	2	121	0.0165	-30	c.947 others(45): Show c.947+637_947+666delCAGATGTAGATGTAGATGTAGATGTAGATG	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG01243.hp1 others(33): Show HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp1 HG01433.hp2 HG01884.hp2 HG01943.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03831.hp2 NA18612.hp1 NA18954.hp1 NA18974.hp1 NA18979.hp1 NA18982.hp2 NA18993.hp1 NA19005.hp1 NA19080.hp2 NA19083.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0092 others(33): Show a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0150 a0001c0002t0001g0135	36	60	0.6000	-30	c.166 others(51): Show c.1669+23863_1669+23892delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19003.hp2 HG03540.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0083 a0001c0001t0001g0147 a0001c0001t0002g0083	2	13	0.1538	-30	c.732 others(45): Show c.732-442_732-413delATATATATATATATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTB2_chr16_69182164_69314052	69292360	ATATATAT others(23): Show ATATATATATATATATATATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG01981.hp1 others(6): Show HG00642.hp2 HG01496.hp1 HG01981.hp1 HG02015.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0002g0115 others(6): Show a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0145	9	216	0.0417	-30	c.134 others(49): Show c.1346-7212_1346-7183delATTATATATATATTATATATATATAT ATAT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	50259510	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00741.hp1 others(28): Show HG00280.hp1 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01978.hp1 HG02055.hp2 HG02300.hp1 HG02723.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG04115.hp2 NA18906.hp1 NA18944.hp2 NA18952.hp1 NA18968.hp2 NA18992.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0014 a0001c0002t0034 a0001c0002t0039 a0001c0002t0047	a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0003g0019 others(28): Show a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0011g0097 a0001c0001t0012g0063 a0001c0001t0013g0009 a0001c0001t0017g0057 a0001c0001t0022g0004 a0001c0001t0030g0053 a0001c0001t0032g0052 a0001c0001t0040g0005 a0001c0001t0041g0025 a0001c0001t0048g0105 a0001c0002t0001g0082 a0001c0002t0003g0008 a0001c0002t0003g0011 a0001c0002t0006g0064 a0001c0002t0010g0012 a0001c0002t0014g0014 a0001c0002t0014g0076 a0001c0002t0034g0062 a0001c0002t0039g0075 a0001c0002t0047g0103	31	96	0.3229	-30	c.-28 others(49): Show c.-28+86877_-28+86906delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50284264	GTTTTTCT others(23): Show GTTTTTCTTATGAATAGATTGAGATTATAGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	106	0.0094	-30	c.-27 others(51): Show c.-27-109919_-27-109890delGATTTTTCTTATGAATAGATTGAG ATTATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50589447	TCACTACT others(23): Show TCACTACTTTCTATCCCGTGTTTTGCTCAAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0011g0097 a0001c0001t0011g0099	2	106	0.0189	-30	c.811 others(47): Show c.811-1387_811-1358delCCGTGTTTTGCTCAACCACTACTTTCTA TC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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