Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SLC7A9_chr19_32825511_32874767	32837490	CTCAAAAA others(19): Show CTCAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(117): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0011	a0001c0001 a0001c0004 a0001c0012 others(8): Show a0001c0001 a0001c0004 a0001c0012 a0001c0023 a0002c0002 a0002c0005 a0002c0014 a0002c0015 a0006c0017 a0007c0027 a0011c0024	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0012t0006 a0001c0023t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0005t0003 a0002c0014t0003 a0002c0015t0003 a0006c0017t0006 a0007c0027t0004 a0011c0024t0003	a0001c0001t0001g0278 a0001c0001t0005g0296 a0001c0004t0001g0032 others(106): Show a0001c0001t0001g0278 a0001c0001t0005g0296 a0001c0004t0001g0032 a0001c0004t0001g0358 a0001c0004t0002g0164 a0001c0004t0002g0165 a0001c0004t0002g0172 a0001c0004t0002g0191 a0001c0004t0003g0147 a0001c0004t0004g0231 a0001c0004t0004g0234 a0001c0004t0004g0235 a0001c0004t0005g0274 a0001c0004t0005g0277 a0001c0004t0005g0314 a0001c0004t0005g0342 a0001c0004t0006g0202 a0001c0012t0006g0208 a0001c0023t0004g0232 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0114 a0002c0002t0002g0139 a0002c0002t0002g0196 a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0057 a0002c0002t0003g0059 a0002c0002t0003g0061 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0138 a0002c0002t0003g0195 a0002c0002t0004g0006 a0002c0002t0004g0240 a0002c0002t0004g0242 a0002c0002t0004g0243 a0002c0002t0004g0244 a0002c0002t0004g0245 a0002c0002t0004g0247 a0002c0002t0004g0248 a0002c0002t0006g0233 a0002c0002t0006g0239 a0002c0002t0006g0246 a0002c0005t0003g0088 a0002c0014t0003g0127 a0002c0015t0003g0038 a0006c0017t0006g0212 a0007c0027t0004g0241 a0011c0024t0003g0063	120	402	0.2985	-26	c.122 others(45): Show c.1225-4193_1225-4168delTTTTTTTTTTTTTTTTTTTTTTTTGA	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	11/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40200198	ATATATAT others(19): Show ATATATATAAATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03139.hp2 HG03540.hp1 HG01361.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0084 a0001c0001t0097 a0001c0001t0082 a0001c0001t0084 a0001c0001t0097	a0001c0001t0082g0048 a0001c0001t0084g0217 a0001c0001t0097g0068 a0001c0001t0082g0048 a0001c0001t0084g0217 a0001c0001t0097g0068	3	233	0.0129	-26	c.180 others(47): Show c.1809-21731_1809-21706delAAAAAATATATATATATTTATATA TA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40451694	AGCGCGGA others(19): Show AGCGCGGACACCCAGAAAAATGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0159 a0001c0001t0034g0159	1	234	0.0043	-26	c.-25 others(41): Show c.-25+184_-25+209delCTGCACATTTTTCTGGGTGTCCGCGC	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	1/10			chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47452427	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	299	0.0033	-26	c.134 others(45): Show c.1341-4222_1341-4197delACACACACTCTCTCTCTCTCTCTCTC	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	3/9			chr19	TogoVar
SLC9A2_chr2_102614553_102716355	102631995	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	68	0.0147	-26	c.289 others(45): Show c.289+11876_289+11901delTATATATATATATATATATATATATA	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102632095	TATATATA others(19): Show TATATATACATATATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0204 a0001c0001t0033g0204	1	326	0.0031	-26	c.289 others(45): Show c.289+11994_289+12019delTATATATGTATATATACATATATACA	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	515811	ACACACAC others(19): Show ACACACACACACACTCCCCCTGCCCCT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0202 a0002c0002t0003g0202	1	212	0.0047	-26	c.211 others(43): Show c.211+8275_211+8300delAGGGGCAGGGGGAGTGTGTGTGTGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	515893	ACACACAC others(19): Show ACACACACACACTCTCCCCCTGCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	216	0.0046	-26	c.211 others(43): Show c.211+8193_211+8218delAGGGGCAGGGGGAGAGTGTGTGTGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A5_chr16_67243979_67277191	67268658	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0001 a0001c0001t0001g0096	2	78	0.0256	-26	c.221 others(45): Show c.2219-2052_2219-2027delATATATATATATATATATATATATAT	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A8_chr20_49807828_49897242	49834177	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	331	0.0030	-26	c.290 others(43): Show c.290-5362_290-5337delCTCTCTCTATATATATATATATATAT	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143732678	TAGAGTCC others(19): Show TAGAGTCCATCTAAATACTTTATTAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0079 a0001c0013t0004g0079	1	106	0.0094	-26	c.534 others(45): Show c.534-39397_534-39372delGTTAATAAAGTATTTAGATGGACTCT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143764994	CCTTCCTT others(19): Show CCTTCCTTTCTTTCTTTCTCTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0092 a0001c0002t0005g0092	1	103	0.0097	-26	c.533 others(45): Show c.533+29981_533+30006delAGAAAGAGAGAAAGAAAGAAAGGAAG	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112150769	CATATATA others(19): Show CATATATATATATAAATACATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp2 HG01071.hp2 others(28): Show HG00621.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02135.hp2 HG02165.hp2 HG02602.hp2 HG03041.hp2 HG03834.hp1 HG04228.hp1 NA18946.hp2 NA18962.hp1 NA18964.hp1 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18999.hp1 NA19010.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp1 NA19086.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0017 a0001c0002 a0001c0006 a0001c0017	a0001c0002t0001 a0001c0006t0001 a0001c0017t0001 a0001c0002t0001 a0001c0006t0001 a0001c0017t0001	a0001c0002t0001g0003 a0001c0002t0001g0061 a0001c0002t0001g0098 others(27): Show a0001c0002t0001g0003 a0001c0002t0001g0061 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0126 a0001c0002t0001g0165 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0006t0001g0084 a0001c0006t0001g0086 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0006t0001g0112 a0001c0006t0001g0113 a0001c0006t0001g0114 a0001c0006t0001g0115 a0001c0006t0001g0150 a0001c0006t0001g0205 a0001c0006t0001g0239 a0001c0017t0001g0312 a0001c0017t0001g0313	31	307	0.1010	-26	c.352 others(45): Show c.3524+1062_3524+1087delATGTATATGTATTTATATATATATAT	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	28/28			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112150795	TATATATA others(19): Show TATATATATATATATAAATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(124): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0014 a0015	a0001c0002 a0002c0001 a0003c0003 others(7): Show a0001c0002 a0002c0001 a0003c0003 a0005c0007 a0006c0008 a0008c0009 a0009c0012 a0011c0018 a0014c0023 a0015c0024	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(11): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0003c0003t0002 a0005c0007t0001 a0005c0007t0008 a0006c0008t0001 a0008c0009t0001 a0009c0012t0001 a0011c0018t0004 a0014c0023t0001 a0015c0024t0001	a0001c0002t0001g0127 a0002c0001t0001g0006 a0002c0001t0001g0015 others(123): Show a0001c0002t0001g0127 a0002c0001t0001g0006 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0042 a0002c0001t0001g0044 a0002c0001t0001g0065 a0002c0001t0001g0079 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0137 a0002c0001t0001g0143 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0166 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0218 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0285 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0291 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0002g0195 a0002c0001t0002g0252 a0002c0001t0004g0136 a0002c0001t0007g0054 a0003c0003t0002g0067 a0003c0003t0002g0190 a0003c0003t0002g0266 a0005c0007t0001g0027 a0005c0007t0001g0028 a0005c0007t0001g0030 a0005c0007t0001g0031 a0005c0007t0001g0032 a0005c0007t0001g0033 a0005c0007t0001g0035 a0005c0007t0001g0145 a0005c0007t0001g0217 a0005c0007t0001g0301 a0005c0007t0008g0034 a0006c0008t0001g0013 a0006c0008t0001g0014 a0006c0008t0001g0070 a0006c0008t0001g0076 a0006c0008t0001g0077 a0006c0008t0001g0078 a0008c0009t0001g0010 a0008c0009t0001g0018 a0008c0009t0001g0339 a0009c0012t0001g0149 a0009c0012t0001g0153 a0009c0012t0001g0318 a0011c0018t0004g0319 a0011c0018t0004g0320 a0014c0023t0001g0243 a0015c0024t0001g0231	127	370	0.3432	-26	c.352 others(45): Show c.3524+1036_3524+1061delGTATATGTATTTATATATATATATAT	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	28/28			chr3	TogoVar
SLCO1C1_chr12_20690332_20758386	20717648	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01255.hp1 others(5): Show HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01257.hp2 HG01975.hp2 NA18944.hp1 NA18953.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0013t0001 a0001c0001t0001 a0001c0002t0002 a0001c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0229 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0229 a0001c0002t0002g0231 a0001c0002t0002g0247 a0001c0002t0002g0277 a0001c0013t0001g0220	8	70	0.1143	-26	c.775 others(41): Show c.775+437_775+462delTTTTTTTTTTTTTTTTTTTTTTTTTT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20724407	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01255.hp1 others(5): Show HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01257.hp2 HG01975.hp2 NA18944.hp1 NA18953.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0013t0001 a0001c0001t0001 a0001c0002t0002 a0001c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0229 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0142 a0001c0001t0001g0229 a0001c0002t0002g0231 a0001c0002t0002g0247 a0001c0002t0002g0277 a0001c0013t0001g0220	8	267	0.0300	-26	c.118 others(45): Show c.1186+1155_1186+1180delGTGTATATATATATATATATATATAT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO6A1_chr5_102366774_102504001	102460899	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	20	0.0500	-26	c.900 others(43): Show c.900-1148_900-1123delATATATATATATATATATATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	4/13			chr5	TogoVar
SLF1_chr5_94613669_94702621	94627585	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0341 a0001c0001t0003g0341	1	138	0.0072	-26	c.1-1 others(39): Show c.1-1216_1-1191delTATATATATATATATATATATATATA	SLF1	ENSG00000133302.13	transcript	ENST00000265140.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLFN11_chr17_35345305_35378621	35378447	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp2 others(36): Show HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01515.hp2 HG02155.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA19058.hp1 NA19060.hp2 NA19080.hp1 NA19084.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0011 a0018 a0019	a0001c0002 a0001c0003 a0001c0007 others(8): Show a0001c0002 a0001c0003 a0001c0007 a0001c0025 a0002c0001 a0004c0006 a0005c0008 a0008c0011 a0011c0015 a0018c0024 a0019c0039	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(11): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001 a0001c0025t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0018 a0004c0006t0001 a0005c0008t0001 a0008c0011t0010 a0011c0015t0010 a0018c0024t0001 a0019c0039t0010	a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0192 others(25): Show a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0192 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0004g0062 a0001c0003t0001g0204 a0001c0007t0001g0036 a0001c0007t0001g0045 a0001c0007t0001g0158 a0001c0007t0001g0188 a0001c0007t0001g0198 a0001c0007t0001g0202 a0001c0025t0001g0201 a0002c0001t0001g0033 a0002c0001t0003g0004 a0002c0001t0003g0035 a0002c0001t0003g0053 a0002c0001t0018g0075 a0004c0006t0001g0183 a0004c0006t0001g0190 a0005c0008t0001g0193 a0008c0011t0010g0189 a0011c0015t0010g0034 a0011c0015t0010g0187 a0018c0024t0001g0194 a0018c0024t0001g0195 a0019c0039t0010g0197	39	116	0.3362	-26	c.-52 others(37): Show c.-5234_-5209delTATATATATATATATATATATATATA	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		4827		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530408	AGGAAGGA others(19): Show AGGAAGGAAGGAAGGAAGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0053 a0011c0012t0053	a0011c0012t0053g0007 a0011c0012t0053g0007	1	352	0.0028	-26	c.-60 others(45): Show c.-606+7139_-606+7164delCTTCCCTTCCTTCCTTCCTTCCTTCC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530415	AAGGAAGG others(19): Show AAGGAAGGAAGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02886.hp2 NA19007.hp2 HG00408.hp2 HG02886.hp2 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0004 a0001c0001t0012 a0003c0007t0144 a0001c0001t0004 a0001c0001t0012 a0003c0007t0144	a0001c0001t0004g0211 a0001c0001t0012g0194 a0003c0007t0144g0169 a0001c0001t0004g0211 a0001c0001t0012g0194 a0003c0007t0144g0169	3	198	0.0152	-26	c.-60 others(45): Show c.-606+7132_-606+7157delCCCTTCCCTTCCCTTCCTTCCTTCCT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530417	GGAAGGAA others(19): Show GGAAGGAAGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp2 HG02056.hp2 others(6): Show HG00408.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG03688.hp1 NA18965.hp1 NA18975.hp2 NA19060.hp2 NA19083.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0003 a0003c0005 others(2): Show a0001c0001 a0002c0003 a0003c0005 a0004c0004 a0005c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0002c0003t0106 a0002c0003t0123 a0003c0005t0007 a0004c0004t0003 a0004c0004t0101 a0005c0006t0036	a0001c0001t0004g0203 a0001c0001t0006g0207 a0001c0001t0012g0204 others(6): Show a0001c0001t0004g0203 a0001c0001t0006g0207 a0001c0001t0012g0204 a0002c0003t0106g0216 a0002c0003t0123g0217 a0003c0005t0007g0202 a0004c0004t0003g0206 a0004c0004t0101g0201 a0005c0006t0036g0205	9	338	0.0266	-26	c.-60 others(45): Show c.-606+7130_-606+7155delTTCCCTTCCCTTCCCTTCCTTCCTTC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLIT1_chr10_96993038_97190959	97186267	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0046 a0001c0001t0023g0046	1	37	0.0270	-26	c.-61 others(35): Show c.-619_-594delGTGTGTGTGTGTGTGTGTGTGTGTGT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding		309		chr10	TogoVar
SLIT2_chr4_20246905_20625561	20291472	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02055.hp2 HG04184.hp2 others(1): Show HG01981.hp1 HG02055.hp2 HG04184.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0002g0074 a0001c0001t0003g0101 a0001c0001t0005g0163 others(1): Show a0001c0001t0002g0074 a0001c0001t0003g0101 a0001c0001t0005g0163 a0001c0001t0020g0130	4	197	0.0203	-26	c.395 others(45): Show c.395+22593_395+22618delATATATATATATATATATATTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291474	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp1 others(7): Show HG00280.hp2 HG00558.hp2 HG00609.hp1 HG02165.hp1 NA18941.hp2 NA18952.hp2 NA18982.hp2 NA18990.hp2 NA19060.hp1 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0015 a0001c0001 a0001c0002 a0007c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0047 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0049 a0007c0015t0002	a0001c0001t0001g0036 a0001c0001t0001g0122 a0001c0001t0005g0119 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0122 a0001c0001t0005g0119 a0001c0001t0047g0068 a0001c0002t0001g0076 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0112 a0001c0002t0049g0069 a0007c0015t0002g0072	10	221	0.0452	-26	c.395 others(45): Show c.395+22595_395+22620delATATATATATATATATATTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20443639	TTTATAAC others(19): Show TTTATAACAATGATTACCTTGTATGGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02717.hp2 HG01106.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0016 a0001c0001t0027 a0001c0002t0016	a0001c0001t0027g0033 a0001c0002t0016g0126 a0001c0001t0027g0033 a0001c0002t0016g0126	2	228	0.0088	-26	c.396 others(45): Show c.396-24110_396-24085delATAACAATGATTACCTTGTATGGATT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168718677	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG03579.hp2 others(2): Show HG02886.hp2 HG02896.hp1 HG03579.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0001c0052 a0002c0002 others(1): Show a0001c0004 a0001c0052 a0002c0002 a0010c0023	a0001c0004t0005 a0001c0052t0005 a0002c0002t0005 others(2): Show a0001c0004t0005 a0001c0052t0005 a0002c0002t0005 a0002c0002t0019 a0010c0023t0005	a0001c0004t0005g0008 a0001c0052t0005g0088 a0002c0002t0005g0082 others(2): Show a0001c0004t0005g0008 a0001c0052t0005g0088 a0002c0002t0005g0082 a0002c0002t0019g0105 a0010c0023t0005g0085	5	21	0.2381	-26	c.248 others(45): Show c.2483+3553_2483+3578delGTGTGTGTGTGTGTGTGTGTGTGTGT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	23/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169015961	CACACACA others(19): Show CACACACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp2 HG03834.hp1 others(3): Show HG01192.hp1 HG02129.hp2 HG03834.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0020 a0002c0011	a0001c0001t0001 a0001c0003t0004 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0003t0004 a0001c0009t0001 a0001c0009t0003 a0001c0020t0003 a0002c0011t0007	a0001c0001t0001g0081 a0001c0003t0004g0045 a0001c0009t0001g0059 others(3): Show a0001c0001t0001g0081 a0001c0003t0004g0045 a0001c0009t0001g0059 a0001c0009t0003g0117 a0001c0020t0003g0109 a0002c0011t0007g0116	6	132	0.0455	-26	c.414 others(47): Show c.414-132651_414-132626delTTGTGTGTGTGTGTGTGTGTGTGT GT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169189527	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG01993.hp1 others(8): Show HG00735.hp2 HG01496.hp2 HG01993.hp1 HG03486.hp1 NA18957.hp2 NA18989.hp1 NA19007.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0001c0017 a0001c0058 a0001c0059 a0002c0005 a0002c0012 a0002c0062	a0001c0001t0003 a0001c0003t0004 a0001c0006t0002 others(7): Show a0001c0001t0003 a0001c0003t0004 a0001c0006t0002 a0001c0014t0002 a0001c0017t0001 a0001c0058t0009 a0001c0059t0004 a0002c0005t0001 a0002c0012t0004 a0002c0062t0029	a0001c0001t0003g0122 a0001c0003t0004g0045 a0001c0006t0002g0039 others(8): Show a0001c0001t0003g0122 a0001c0003t0004g0045 a0001c0006t0002g0039 a0001c0006t0002g0043 a0001c0014t0002g0028 a0001c0017t0001g0029 a0001c0058t0009g0097 a0001c0059t0004g0027 a0002c0005t0001g0016 a0002c0012t0004g0031 a0002c0062t0029g0032	11	24	0.4583	-26	c.413 others(43): Show c.413+3926_413+3951delATATATATATATATATATATATATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SMAD3_chr15_67060602_67200169	67160770	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0168 a0001c0001t0028g0287 a0001c0001t0001g0168 a0001c0001t0028g0287	2	4	0.5000	-26	c.207 others(43): Show c.207-4108_207-4083delAAAAAAAAAAAAAAAAAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAGP_chr12_51239558_51275415	51248428	ACACACAC others(19): Show ACACACACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0300	1	358	0.0028	-26	c.35- others(41): Show c.35-1623_35-1598delAGAGAGAGAGAGAGAGAGAGTGTGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01243.hp1 others(10): Show HG00639.hp2 HG01069.hp2 HG01243.hp1 HG02258.hp1 HG02630.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG06807.hp2 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0003 a0001c0040 a0002c0005 others(7): Show a0001c0003 a0001c0040 a0002c0005 a0002c0046 a0003c0007 a0005c0020 a0005c0021 a0006c0018 a0007c0015 a0009c0063	a0001c0003t0002 a0001c0003t0005 a0001c0040t0001 others(9): Show a0001c0003t0002 a0001c0003t0005 a0001c0040t0001 a0002c0005t0001 a0002c0005t0002 a0002c0046t0005 a0003c0007t0002 a0005c0020t0001 a0005c0021t0002 a0006c0018t0002 a0007c0015t0001 a0009c0063t0006	a0001c0003t0002g0277 a0001c0003t0005g0128 a0001c0040t0001g0019 others(10): Show a0001c0003t0002g0277 a0001c0003t0005g0128 a0001c0040t0001g0019 a0002c0005t0001g0133 a0002c0005t0002g0016 a0002c0046t0005g0134 a0003c0007t0002g0250 a0005c0020t0001g0257 a0005c0021t0002g0024 a0005c0021t0002g0235 a0006c0018t0002g0246 a0007c0015t0001g0237 a0009c0063t0006g0280	13	49	0.2653	-26	c.398 others(45): Show c.3982-5953_3982-5928delTTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70349414	CATAGAAG others(19): Show CATAGAAGTGCCATCAATAAGAATAGT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	364	0.0027	-26	c.289 others(43): Show c.2890-698_2890-673delTAGAAGTGCCATCAATAAGAATAGTA	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2661544	GTGGGTTT others(19): Show GTGGGTTTTTAATATGGATTAAACATC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03130.hp1 others(1): Show HG02630.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0002c0026 a0001c0015 a0002c0026	a0001c0015t0006 a0001c0015t0023 a0002c0026t0002 a0001c0015t0006 a0001c0015t0023 a0002c0026t0002	a0001c0015t0006g0303 a0001c0015t0006g0304 a0001c0015t0023g0305 others(1): Show a0001c0015t0006g0303 a0001c0015t0006g0304 a0001c0015t0023g0305 a0002c0026t0002g0144	4	338	0.0118	-26	c.187 others(43): Show c.187-4584_187-4559delGGTTTTTAATATGGATTAAACATCTG	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196515988	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18612.hp1 NA18945.hp1 others(10): Show HG00423.hp1 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18966.hp1 NA18967.hp1 NA18980.hp1 NA18980.hp2 NA18992.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0103	13	215	0.0605	-26	c.-80 others(35): Show c.-805_-780delATATATATATATATATATATATATAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		643		chr3	TogoVar
SMCO4_chr11_93473472_93548391	93534213	TATACACA others(19): Show TATACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(114): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0002t0004 a0001c0002t0022 a0001c0003t0005 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0265 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0316 a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0171 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0040 a0001c0001t0003g0054 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0101 a0001c0001t0003g0107 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0247 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0329 a0001c0001t0006g0019 a0001c0001t0006g0127 a0001c0001t0006g0201 a0001c0001t0010g0215 a0001c0001t0010g0228 a0001c0001t0010g0327 a0001c0001t0012g0371 a0001c0001t0017g0246 a0001c0002t0004g0200 a0001c0002t0022g0055 a0001c0003t0005g0186 a0002c0004t0001g0266	117	297	0.3939	-26	c.-15 others(45): Show c.-154+9037_-154+9062delGTGTGTGTGTGTGTGTGTGTGTGTAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534215	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02280.hp2 HG02886.hp2 others(2): Show HG01074.hp2 HG02280.hp2 HG02886.hp2 NA19056.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0001t0002 a0001c0001t0003 a0001c0001t0025	a0001c0001t0002g0103 a0001c0001t0002g0259 a0001c0001t0003g0321 others(2): Show a0001c0001t0002g0103 a0001c0001t0002g0259 a0001c0001t0003g0321 a0001c0001t0003g0324 a0001c0001t0025g0372	5	253	0.0198	-26	c.-15 others(45): Show c.-154+9035_-154+9060delGTGTGTGTGTGTGTGTGTGTGTGTGT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMIM14_chr4_39541336_39643865	39576672	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0299	1	336	0.0030	-26	c.76- others(41): Show c.76-4235_76-4210delAAAAAAAAAAAAAATATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576674	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	336	0.0030	-26	c.76- others(41): Show c.76-4237_76-4212delAAAAAAAAAAAAAAAATATATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576680	ATATATTT others(19): Show ATATATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	340	0.0029	-26	c.76- others(41): Show c.76-4243_76-4218delAAAAAAAAAAAAAAAAAAAAAATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56647370	TGGGGTTG others(19): Show TGGGGTTGTGTGTTTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	415	0.0024	-26	c.170 others(41): Show c.170-186_170-161delGGGTTGTGTGTTTGTGTGTGTGTGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56651639	GTGAGAAG others(19): Show GTGAGAAGTTGGGGTAGTGGTTACCTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0153 a0001c0001t0011g0153	1	416	0.0024	-26	c.247 others(43): Show c.247-3459_247-3434delAAGTTGGGGTAGTGGTTACCTTTGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM19_chr8_42536585_42560195	42552404	GGAGACTC others(19): Show GGAGACTCTATCTCTGAAACAAACAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01081.hp2 others(27): Show HG00544.hp2 HG00558.hp2 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01891.hp1 HG01928.hp2 HG01981.hp2 HG02040.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03834.hp2 HG04184.hp1 NA18522.hp1 NA18979.hp2 NA18998.hp1 NA19009.hp1 NA19030.hp1 NA19067.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0032	a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0077 others(8): Show a0001c0001t0004g0005 a0001c0001t0004g0033 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0007g0011 a0001c0001t0007g0082 a0001c0001t0014g0018 a0001c0001t0032g0011	30	382	0.0785	-26	c.260 others(41): Show c.260-139_260-114delGAGACTCTATCTCTGAAACAAACAGA	SMIM19	ENSG00000176209.12	transcript	ENST00000417410.7	protein_coding	3/3			chr8	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02717.hp2 others(6): Show HG01891.hp2 HG02630.hp1 HG02717.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 NA18522.hp2 NA18944.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0184 a0001c0001t0003g0169 a0001c0001t0003g0170 others(6): Show a0001c0001t0001g0184 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0018g0173 a0002c0002t0007g0172 a0003c0003t0013g0168 a0003c0003t0013g0171	9	73	0.1233	-26	c.7+1 others(41): Show c.7+18865_7+18890delATATATATATATATATATATATATAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM46_chr19_14107324_14117476	14109959	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	354	0.0028	-26	c.23 others(37): Show c.2339_*2364delATATATATATATATATATATTTTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2364		chr19	TogoVar
SMN1_chr5_70920087_70958015	70939824	TCAATAGT others(19): Show TCAATAGTCCAGACTACCTTGAGCAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	36	0.0278	-26	c.153 others(41): Show c.153+943_153+968delATAGTCCAGACTACCTTGAGCAAACA	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	6	0.1667	-26	c.-97 others(35): Show c.-979_-954delTGTGTGTGTGTGTGTGTGTGTGTGTG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69924804	GGAGCTAG others(19): Show GGAGCTAGGGGAGGTAAAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	268	0.0037	-26	c.100 others(45): Show c.100-27330_100-27305delCTAGGGGAGGTAAAGGAGGAGGAGAG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168614632	GGCCTCTT others(19): Show GGCCTCTTCACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0114 a0001c0005t0001g0126 a0001c0001t0001g0114 a0001c0005t0001g0126	2	151	0.0132	-26	c.907 others(43): Show c.907+6395_907+6420delCCTCTTCACACCTACAGCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615282	ATGGGGCC others(19): Show ATGGGGCCTCTTCACACCTACAGCCAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	178	0.0056	-26	c.907 others(43): Show c.907+7044_907+7069delTGGGGCCTCTTCACACCTACAGCCAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12			chr6	TogoVar

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