Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
RBM33_chr7_155639661_155786480	155673591	TATACACA others(59): Show TATACACACATATACATACACACGTGTATATATATACACACATATACATA CACACGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03195.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0024 a0001c0002t0023 a0001c0002t0024	a0001c0002t0023g0156 a0001c0002t0024g0153 a0001c0002t0024g0155 a0001c0002t0023g0156 a0001c0002t0024g0153 a0001c0002t0024g0155	3	306	0.0098	-66	c.171 others(81): Show c.171+678_171+743delTACACACATATACATACACACGTGTATATA TATACACACATATACATACACACGTGTATATATACA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RETREG3_chr17_42574515_42614374	42597517	GTGTGTGT others(59): Show GTGTGTGTATATATATATATATATATTTCGTATATATATTTTTGTGTATA TATATATTTTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0159	1	360	0.0028	-66	c.240 others(83): Show c.240-5421_240-5356delTACACACAAAATATATATATACACAAAA ATATATATACGAAATATATATATATATATATACACACA	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
REV3L_chr6_111294033_111488218	111422614	ACATATAT others(59): Show ACATATATATATATATACACATATATATATATATACATATATATATATAC ATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01346.hp1 others(11): Show HG00438.hp2 HG00558.hp1 HG01346.hp1 HG01496.hp2 HG01993.hp1 HG02040.hp2 HG02080.hp2 HG02135.hp1 HG02258.hp1 HG03492.hp1 NA18962.hp1 NA18977.hp1 NA18983.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0002t0007 a0002c0015t0001 a0002c0002t0001 a0002c0002t0007 a0002c0015t0001	a0002c0002t0001g0164 a0002c0002t0001g0175 a0002c0002t0001g0176 others(11): Show a0002c0002t0001g0164 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0196 a0002c0002t0001g0205 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0225 a0002c0002t0001g0245 a0002c0002t0007g0186 a0002c0015t0001g0217 a0002c0015t0001g0218	14	288	0.0486	-66	c.140 others(83): Show c.140-6208_140-6143delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATG	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFX8_chr2_101392359_101480112	101469044	ATATATAT others(59): Show ATATATATATACGTATATATATGTATATATATATAAGTGTATATATATAA GTATATATATATAAGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0206 a0004c0004t0001g0206	1	352	0.0028	-66	c.-52 others(83): Show c.-52-2210_-52-2145delCACTTATATATATATACTTATATATATA CACTTATATATATATACATATATATACGTATATATATA	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGS13_chr1_192631147_192665311	192640668	GTCCTCCT others(59): Show GTCCTCCTCACTTATAGTAGAGACTTACATAGAAAATGAAGTTGATCAGA CCACATTTCTCATATGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(124): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp2 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18974.hp1 NA18979.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19076.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp2 NA19091.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0005 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(91): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0007g0271 a0001c0001t0008g0272 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0051 a0001c0003t0005g0204 a0001c0003t0005g0261 a0001c0003t0005g0262 a0003c0004t0001g0184 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0222 a0003c0004t0001g0238	127	420	0.3024	-66	c.-5+ others(81): Show c.-5+2468_-5+2533delCTCCTCACTTATAGTAGAGACTTACATAGA AAATGAAGTTGATCAGACCACATTTCTCATATGTTC	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546453	TATATATA others(59): Show TATATATATATATATATATATGTGTATATATATATATATATATATATATA TATATATATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	332	0.0030	-66	c.201 others(83): Show c.201+2655_201+2720delTATATATGTGTATATATATATATATATA TATATATATATATATATGTATATACATATATATATATA	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHPN1_chr8_143363876_143389221	143385158	CTGTGGCC others(59): Show CTGTGGCCTGTGCCCCGCCAGAGGGCAGTGCAGCCCCTGGGGCCAGCACA CAGGAGGCGGCAGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	-66	c.25 others(77): Show c.2508_*2573delTGTGGCCTGTGCCCCGCCAGAGGGCAGTGCAGCC CCTGGGGCCAGCACACAGGAGGCGGCAGCTCA	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding		938		chr8	TogoVar
RNF150_chr4_140854807_141138469	140999942	AAAGAAGA others(59): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGAAG AAAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0054 a0001c0001t0011g0054	1	184	0.0054	-66	c.485 others(85): Show c.485-32135_485-32070delCTTCTTCTTCTTCTTTTCTTCTTTTC TTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF213_chr17_80255852_80403794	80260541	CCGGCGGC others(59): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG03209.hp1 others(1): Show HG01243.hp2 HG02572.hp2 HG03209.hp1 NA19240.hp1	a0015 a0018 a0096 others(1): Show a0015 a0018 a0096 a0098	a0015c0018 a0018c0108 a0096c0107 others(1): Show a0015c0018 a0018c0108 a0096c0107 a0098c0109	a0015c0018t0022 a0018c0108t0006 a0096c0107t0039 others(1): Show a0015c0018t0022 a0018c0108t0006 a0096c0107t0039 a0098c0109t0064	a0015c0018t0022g0085 a0018c0108t0006g0083 a0096c0107t0039g0081 others(1): Show a0015c0018t0022g0085 a0018c0108t0006g0083 a0096c0107t0039g0081 a0098c0109t0064g0084	4	292	0.0137	-66	c.-46 others(75): Show c.-469_-404delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		310		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(59): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18950.hp2 HG03486.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0132 a0002c0027 a0001c0132 a0002c0027	a0001c0132t0026 a0002c0027t0007 a0001c0132t0026 a0002c0027t0007	a0001c0132t0026g0006 a0002c0027t0007g0064 a0001c0132t0026g0006 a0002c0027t0007g0064	2	292	0.0069	-66	c.-43 others(75): Show c.-439_-374delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		280		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260631	CCGGCGGC others(59): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG03579.hp1 others(1): Show HG00639.hp2 HG02145.hp2 HG03579.hp1 NA18998.hp2	a0004 a0051 a0052 others(1): Show a0004 a0051 a0052 a0054	a0004c0047 a0051c0135 a0052c0134 others(1): Show a0004c0047 a0051c0135 a0052c0134 a0054c0137	a0004c0047t0065 a0051c0135t0078 a0052c0134t0008 others(1): Show a0004c0047t0065 a0051c0135t0078 a0052c0134t0008 a0054c0137t0016	a0004c0047t0065g0150 a0051c0135t0078g0016 a0052c0134t0008g0014 others(1): Show a0004c0047t0065g0150 a0051c0135t0078g0016 a0052c0134t0008g0014 a0054c0137t0016g0015	4	292	0.0137	-66	c.-37 others(75): Show c.-379_-314delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		220		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260721	CCGGCGGC others(59): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0049 a0013c0012t0049	a0013c0012t0049g0217 a0013c0012t0049g0217	1	292	0.0034	-66	c.-28 others(75): Show c.-289_-224delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		130		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314262	GTAAAGGT others(59): Show GTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGT GGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	292	0.0034	-66	c.281 others(85): Show c.2811+1097_2811+1162delAAAGGTGATGGTGGAGGTACTGGAGG TGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGAT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314436	ATGGTGGA others(59): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0006 a0025c0038t0006	a0025c0038t0006g0007 a0025c0038t0006g0007	1	292	0.0034	-66	c.281 others(85): Show c.2811+1299_2811+1364delATGGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315418	TGGTGGAG others(59): Show TGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTG ATGGTGGAGGTAATGGA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0036 a0036	a0036c0144 a0036c0144	a0036c0144t0003 a0036c0144t0003	a0036c0144t0003g0173 a0036c0144t0003g0173	1	292	0.0034	-66	c.281 others(85): Show c.2812-1764_2812-1699delAGGTAATGGAGGTGATGGTGGTGGTG GTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNFT2_chr12_116733315_116858631	116841828	TATATAAA others(59): Show TATATAAATATATATATAAATATATATAAAAATATATATATAAATATATA TATAAATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp2 NA21309.hp2 HG02922.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0033 a0001c0002t0005 a0001c0002t0033	a0001c0002t0005g0149 a0001c0002t0005g0151 a0001c0002t0033g0150 a0001c0002t0005g0149 a0001c0002t0005g0151 a0001c0002t0033g0150	3	268	0.0112	-66	c.120 others(85): Show c.1200+5552_1200+5617delAATATATATATAAATATATATAAAAA TATATATATAAATATATATATAAATATATATAAAAATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RORA_chr15_60483284_61234302	60597567	TATATATA others(59): Show TATATATACACATATATATATATATATACACATATATATATATATATATA TACATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0076 a0001c0001t0030g0076	1	118	0.0085	-66	c.197 others(85): Show c.197-65782_197-65717delGTATATATATGTATGTATATATATAT ATATATATATGTGTATATATATATATATATGTGTATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74558638	AAATATCA others(59): Show AAATATCACAGCAATGCAATGTAAGAAGAATAAGGACAAAGTGCTGAGAA GAGATAGAGGGAGAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(80): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0055 a0001c0001t0062 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0022 a0001c0002t0023 a0001c0002t0058 a0001c0002t0061 a0001c0002t0065	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0031 others(79): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0170 a0001c0001t0001g0203 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0005g0010 a0001c0001t0007g0038 a0001c0001t0008g0077 a0001c0001t0008g0091 a0001c0001t0008g0105 a0001c0001t0009g0022 a0001c0001t0009g0024 a0001c0001t0009g0070 a0001c0001t0009g0075 a0001c0001t0010g0003 a0001c0001t0011g0171 a0001c0001t0014g0009 a0001c0001t0018g0088 a0001c0001t0019g0085 a0001c0001t0019g0089 a0001c0001t0019g0090 a0001c0001t0022g0071 a0001c0001t0024g0094 a0001c0001t0025g0053 a0001c0001t0025g0218 a0001c0001t0027g0081 a0001c0001t0029g0056 a0001c0001t0031g0123 a0001c0001t0032g0061 a0001c0001t0033g0078 a0001c0001t0034g0067 a0001c0001t0039g0032 a0001c0001t0041g0059 a0001c0001t0043g0047 a0001c0001t0045g0062 a0001c0001t0047g0086 a0001c0001t0049g0104 a0001c0001t0053g0173 a0001c0001t0055g0016 a0001c0001t0062g0103 a0001c0002t0001g0046 a0001c0002t0001g0121 a0001c0002t0002g0048 a0001c0002t0002g0217 a0001c0002t0003g0026 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0045 a0001c0002t0003g0049 a0001c0002t0003g0122 a0001c0002t0004g0027 a0001c0002t0005g0001 a0001c0002t0009g0116 a0001c0002t0011g0120 a0001c0002t0022g0025 a0001c0002t0023g0043 a0001c0002t0023g0216 a0001c0002t0058g0108 a0001c0002t0061g0044 a0001c0002t0065g0030	83	226	0.3673	-66	c.7+6 others(81): Show c.7+60725_7+60790delATCACAGCAATGCAATGTAAGAAGAATAAG GACAAAGTGCTGAGAAGAGATAGAGGGAGAAACAAT	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RP1L1_chr8_10601349_10660143	10631301	GCATGCAC others(59): Show GCATGCACACACACGCACACACGCACACACACATGCACACACACGCACAC ACATGCACACAAACACA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0174 a0003c0004t0014g0174	1	414	0.0024	-66	c.-19 others(83): Show c.-19-8147_-19-8082delTGTGTTTGTGTGCATGTGTGTGCGTGTG TGTGCATGTGTGTGTGCGTGTGTGCGTGTGTGTGCATG	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	1/3			chr8	TogoVar
RPH3AL_chr17_207389_357807	215978	CCACCCAC others(59): Show CCACCCACATGGCTGCCGGGCTCTGGCCTGACCCCACCCACATGGCTGCC GGGCTCTGGCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(31): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02698.hp1 HG03831.hp1 HG04184.hp1 NA18940.hp1 NA18940.hp2 NA18947.hp1 NA18951.hp1 NA18959.hp2 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA19088.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0007 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0002t0001 a0001c0004t0001 a0001c0004t0004 a0004c0007t0007 a0005c0010t0003	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0110 others(31): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0002g0049 a0001c0001t0002g0079 a0001c0001t0003g0051 a0001c0001t0003g0081 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0012g0005 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0014g0023 a0001c0001t0015g0041 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0021g0077 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0057 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0062 a0001c0004t0004g0014 a0004c0007t0007g0117 a0005c0010t0003g0085	34	133	0.2556	-66	c.728 others(81): Show c.728-242_728-177delAGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTGGGGTCAGGCCAGAGCCCGGCAGCCATGTGGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665464	TTTCCTTT others(59): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTC CTTTCCTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0066 a0001c0040t0066	a0001c0040t0066g0180 a0001c0040t0066g0180	1	196	0.0051	-66	c.348 others(85): Show c.348+21657_348+21722delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRH_chr4_109822972_109849942	109827302	TAATAAAT others(59): Show TAATAAATTAGACTTTATTAGATTCTGGGTTTATTAACTTGGATATTATA ATACAGCCTTATGGGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00642.hp2 others(61): Show HG00323.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG03225.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG04228.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18980.hp1 NA18984.hp1 NA18987.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19012.hp2 NA19070.hp1 NA19075.hp2 NA19076.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0006t0003	a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0003g0003 others(24): Show a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0007g0058 a0001c0001t0007g0088 a0001c0001t0008g0029 a0001c0001t0008g0073 a0001c0001t0010g0003 a0001c0001t0010g0012 a0001c0006t0003g0007	64	402	0.1592	-66	c.-72 others(75): Show c.-725_-660delAATAAATTAGACTTTATTAGATTCTGGGTTTATTAA CTTGGATATTATAATACAGCCTTATGGGAA	RRH	ENSG00000180245.7	transcript	ENST00000317735.7	protein_coding		669		chr4	TogoVar
RSU1_chr10_16585611_16822424	16645912	ATATATAT others(59): Show ATATATATGTGTATATACACATATGTGTATATATATGTGTATATACATAT ATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0144 a0001c0002t0058g0144	1	190	0.0053	-66	c.731 others(85): Show c.731+49045_731+49110delCACATATATATACACATATATGTATA TACACATATATATACACATATGTGTATATACACATATATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59749242	ATATATCT others(59): Show ATATATCTATATATCTATATATATCTATATATATATCTATATATATCTAT ATATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	172	0.0058	-66	c.242 others(83): Show c.242-2827_242-2762delGATATATATAGATATATATAGATATATA TAGATATATATATAGATATATATAGATATATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUNX1_chr21_34782801_35054302	34926489	AGCACATA others(59): Show AGCACATATTTATTATTGACTAAATCTGTCAGCATTTTGATCTACAACAA ACACAAATTGTGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00621.hp1 others(44): Show HG00280.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02132.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02735.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp1 NA18957.hp1 NA18978.hp2 NA18983.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 others(44): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0090 a0001c0001t0002g0156 a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0005g0138 a0001c0001t0008g0049 a0001c0001t0009g0033 a0001c0001t0009g0157 a0001c0001t0011g0003 a0001c0001t0011g0094 a0001c0001t0012g0085 a0001c0001t0013g0076 a0001c0001t0016g0144 a0001c0001t0022g0023 a0001c0001t0023g0115 a0001c0001t0028g0122 a0001c0002t0003g0077 a0001c0002t0003g0127 a0001c0002t0006g0022 a0001c0002t0007g0121 a0001c0002t0007g0151	47	170	0.2765	-66	c.59- others(83): Show c.59-33592_59-33527delAAAAACACAATTTGTGTTTGTTGTAGAT CAAAATGCTGACAGATTTAGTCAATAATAAATATGTGC	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237266783	GGTATAGC others(59): Show GGTATAGCAGAGCTCTCCTGAACTGAACCATGATTGAAAGCTGTAGCTAT AGCCTCTCTCCTTGGTA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	100	0.0100	-66	c.49- others(81): Show c.49-3648_49-3583delAGTATAGCAGAGCTCTCCTGAACTGAACCA TGATTGAAAGCTGTAGCTATAGCCTCTCTCCTTGGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBK2_chr19_55523611_55542133	55527615	TCACACTC others(59): Show TCACACTCATGGACACACATGCACACTGGCACACATACGCATACTCATGG ACACATGCACACTCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0274 a0002c0002t0015g0274	1	434	0.0023	-66	c.20 others(77): Show c.2052_*2117delTGTGAGTGTGCATGTGTCCATGAGTATGCGTATG TGTGCCAGTGTGCATGTGTGTCCATGAGTGTG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		995		chr19	TogoVar
SEC14L3_chr22_30454229_30477017	30454865	AATACATA others(59): Show AATACATAATATATTATTATATATTATATAATAGATATATAATATATTAT TATATATTATATAATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(111): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0009 a0004c0004t0001 a0005c0005t0002 a0008c0008t0002	a0001c0001t0001g0131 a0001c0001t0002g0030 a0001c0001t0002g0031 others(41): Show a0001c0001t0001g0131 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0074 a0001c0001t0002g0091 a0001c0001t0002g0122 a0001c0001t0002g0137 a0003c0003t0002g0003 a0003c0003t0002g0011 a0003c0003t0002g0027 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0002g0063 a0003c0003t0002g0066 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0087 a0003c0003t0002g0089 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0101 a0003c0003t0002g0106 a0003c0003t0002g0111 a0003c0003t0002g0132 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0164 a0003c0003t0002g0165 a0003c0003t0004g0016 a0003c0003t0004g0105 a0003c0003t0005g0019 a0003c0003t0009g0090 a0004c0004t0001g0036 a0004c0004t0001g0052 a0004c0004t0001g0103 a0004c0004t0001g0104 a0005c0005t0002g0004 a0005c0005t0002g0015 a0005c0005t0002g0107 a0005c0005t0002g0108 a0005c0005t0002g0109 a0008c0008t0002g0038	114	454	0.2511	-66	c.50 others(77): Show c.5090_*5155delCTATTATATAATATATAATAATATATTATATATC TATTATATAATATATAATAATATATTATGTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4363		chr22	TogoVar
SEC23A_chr14_39026919_39108235	39094315	TATGCATA others(59): Show TATGCATATATACACATATACACATATATATGCATATATACACATATACA TATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03130.hp2 others(1): Show HG02280.hp2 HG02717.hp2 HG03130.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0001g0275 a0001c0001t0001g0349 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0275 a0001c0001t0001g0349 a0001c0001t0005g0342	4	366	0.0109	-66	c.222 others(83): Show c.222-1137_222-1072delGTGTGTGTATATATATATGTATATGTGT ATATATGCATATATATGTGTATATGTGTATATATGCAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEMA3E_chr7_83358238_83654139	83552915	GGACCCTT others(59): Show GGACCCTTATCAGTAGTTCTGCTTTTGCCCTTTGTCCTGTTCCCTCAGAA GCATGTGATCTTTGTTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01891.hp1 HG02055.hp1 others(5): Show HG01070.hp2 HG01891.hp1 HG02055.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0007	a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 others(4): Show a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0002t0040 a0001c0005t0039 a0003c0007t0036	a0001c0001t0024g0004 a0001c0001t0024g0005 a0001c0001t0035g0001 others(5): Show a0001c0001t0024g0004 a0001c0001t0024g0005 a0001c0001t0035g0001 a0001c0001t0037g0003 a0001c0001t0038g0006 a0001c0002t0040g0008 a0001c0005t0039g0002 a0003c0007t0036g0007	8	226	0.0354	-66	c.116 others(85): Show c.116-62707_116-62642delTAACAAAGATCACATGCTTCTGAGGG AACAGGACAAAGGGCAAAAGCAGAACTACTGATAAGGGTC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SENP3_chr17_7556919_7576969	7571846	TATATATA others(59): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0010 a0001c0001t0111g0010	1	446	0.0022	-66	c.37 others(75): Show c.371_*436delTATATATATATATATATATATATATATATATATATA TATATATATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	371	INFO_REALIGN_3_PRIME	chr17	TogoVar
SERTAD3_chr19_40435844_40449335	40442440	TAATTTCT others(59): Show TAATTTCTTCAAACATGGAGCACGAAAGACAAGTGTGGAGCACAGAGACC TGGATTGGAAGTAGGGA	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	378	0.0027	-66	c.-6- others(79): Show c.-6-420_-6-355delTCCCTACTTCCAATCCAGGTCTCTGTGCTCCA CACTTGTCTTTCGTGCTCCATGTTTGAAGAAATT	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding	1/1			chr19	TogoVar
SH3BP5_chr3_15249353_15337586	15272566	CATTACAA others(59): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CCGTAGGATAAAGACAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01243.hp1 others(5): Show HG00597.hp2 HG00621.hp1 HG01243.hp1 HG01981.hp2 HG02080.hp1 HG02895.hp1 NA18947.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0226 others(5): Show a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0226 a0001c0001t0001g0309 a0001c0001t0002g0007 a0001c0001t0003g0100 a0001c0002t0001g0261 a0001c0002t0003g0094	8	376	0.0213	-66	c.331 others(83): Show c.331-2755_331-2690delATGTCTTTATCCTACGGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3GL3_chr15_83442341_83623743	83560893	GCTTTTTA others(59): Show GCTTTTTAATTATAAAAAGATACAGTCAATGTAGTCTATCAGGAAATTAT AATAGTTATGAACCATT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp2 HG02293.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0165 a0001c0001t0001g0057 a0001c0001t0001g0165	2	324	0.0062	-66	c.114 others(83): Show c.114+1575_114+1640delTTTTAATTATAAAAAGATACAGTCAATG TAGTCTATCAGGAAATTATAATAGTTATGAACCATTCT	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3TC1_chr4_8194290_8246103	8229894	AACGAGGA others(59): Show AACGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGG AGACCGGGGGCCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(14): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01516.hp2 HG02258.hp1 HG02818.hp2 HG02922.hp1 HG03471.hp1 HG03540.hp2 HG04199.hp1 NA20300.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0012 a0024 a0035	a0001c0001 a0001c0002 a0002c0005 others(8): Show a0001c0001 a0001c0002 a0002c0005 a0002c0039 a0004c0016 a0006c0023 a0006c0029 a0007c0032 a0012c0030 a0024c0058 a0035c0081	a0001c0001t0001 a0001c0002t0001 a0002c0005t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0002 a0002c0039t0002 a0004c0016t0001 a0006c0023t0001 a0006c0029t0001 a0007c0032t0002 a0012c0030t0002 a0024c0058t0001 a0035c0081t0002	a0001c0001t0001g0312 a0001c0002t0001g0110 a0001c0002t0001g0114 others(13): Show a0001c0001t0001g0312 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0237 a0002c0005t0002g0190 a0002c0039t0002g0187 a0002c0039t0002g0188 a0004c0016t0001g0228 a0006c0023t0001g0016 a0006c0023t0001g0133 a0006c0023t0001g0134 a0006c0029t0001g0267 a0007c0032t0002g0014 a0012c0030t0002g0005 a0024c0058t0001g0045 a0035c0081t0002g0186	17	374	0.0455	-66	c.295 others(85): Show c.2950+1365_2950+1430delGAGACCGGGGGCCAGGGGACGAGGAT CATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3YL1_chr2_213144_269032	236152	GGCAGCAT others(59): Show GGCAGCATGGGCCAGGGGAGGCAGCAGCACGGGCCAGGGGAGGCAGCAGC ATGGGTCAGGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(74): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19067.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0003t0001g0181 a0001c0004t0001g0141	77	360	0.2139	-66	c.292 others(83): Show c.292-1946_292-1881delTGCCTCCCCTGACCCATGCTGCTGCCTC CCCTGGCCCGTGCTGCTGCCTCCCCTGGCCCATGCTGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHB_chr9_37910898_38074227	37918374	CGTGTGTA others(59): Show CGTGTGTAGGTGTTCTTGTGTGTGGAAGCAGTGTGGACCACTGAGGGCTG TGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02622.hp1 HG02717.hp1 others(4): Show HG02015.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02965.hp1 NA19043.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015	a0001c0001t0017 a0001c0002t0017 a0001c0004t0033 others(2): Show a0001c0001t0017 a0001c0002t0017 a0001c0004t0033 a0001c0004t0050 a0001c0015t0021	a0001c0001t0017g0218 a0001c0002t0017g0063 a0001c0002t0017g0151 others(4): Show a0001c0001t0017g0218 a0001c0002t0017g0063 a0001c0002t0017g0151 a0001c0004t0033g0018 a0001c0004t0050g0077 a0001c0015t0021g0192 a0001c0015t0021g0193	7	330	0.0212	-66	c.13 others(77): Show c.1381_*1446delACACACACACACACACACAGCCCTCAGTGGTCCA CACTGCTTCCACACACAAGAACACCTACACAC	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	1381		chr9	TogoVar
SHROOM4_chrX_50581796_50819194	50795088	GATATATA others(59): Show GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATATATATGATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02602.hp1 HG02698.hp1 others(2): Show HG02015.hp1 HG02602.hp1 HG02698.hp1 HG03688.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0123 a0002c0002t0001g0093 a0002c0002t0004g0095	5	175	0.0286	-66	c.117 others(85): Show c.117+18748_117+18813delATATATATCATATATATATATATATA TCATATATATATATCATATATATATATCATATATATATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SLC13A3_chr20_46552828_46656459	46656268	GTACAGTA others(59): Show GTACAGTATATATTATACTGTATATAATATACTATACAGTATATATTATA CTGTATATGATATACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0009 a0001c0006t0006g0009	1	390	0.0026	-66	c.-49 others(77): Show c.-4913_-4848delTAGTATATCATATACAGTATAATATATACTGTAT AGTATATTATATACAGTATAATATATACTGTA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4810		chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46656293	AATATACT others(59): Show AATATACTATACAGTATATATTATACTGTATATGATATACTATACAGTAT ATATTATACTGTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(32): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00673.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp1 HG02683.hp2 HG04184.hp2 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18993.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp2 NA19060.hp1 NA19064.hp1 NA19078.hp2 NA19086.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0003c0010 a0011c0015 a0012c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0016 a0001c0008t0001 a0003c0010t0003 a0011c0015t0002 a0012c0030t0008	a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0002g0191 others(32): Show a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0002g0191 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0003t0004g0192 a0001c0003t0004g0206 a0001c0003t0007g0216 a0001c0004t0001g0203 a0001c0004t0001g0242 a0001c0004t0003g0194 a0001c0004t0003g0197 a0001c0004t0003g0221 a0001c0004t0003g0232 a0001c0005t0002g0201 a0001c0005t0002g0204 a0001c0005t0002g0205 a0001c0005t0002g0210 a0001c0005t0002g0211 a0001c0005t0002g0212 a0001c0006t0001g0220 a0001c0006t0016g0195 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0208 a0003c0010t0003g0202 a0011c0015t0002g0219 a0012c0030t0008g0384	35	390	0.0897	-66	c.-49 others(77): Show c.-4938_-4873delCATATACAGTATAATATATACTGTATAGTATATC ATATACAGTATAATATATACTGTATAGTATAT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4835		chr20	TogoVar
SLC16A3_chr17_82224042_82245086	82227569	TGGGAGCA others(59): Show TGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAG CACCACCTGCCCTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01106.hp1 others(18): Show HG00639.hp1 HG00733.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01978.hp1 HG02135.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 NA20129.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0003c0004t0016 a0001c0001t0002 a0001c0001t0004 a0003c0004t0016	a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0256 others(16): Show a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0277 a0001c0001t0004g0050 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0003c0004t0016g0276	21	410	0.0512	-66	c.-15 others(77): Show c.-1563_-1498delGGGAGCACCACCTGCCCTGGGCGGGAGCACCACC TGCCCTGGGCGGGAGCACCACCTGCCCTGGGC	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1472		chr17	TogoVar
SLC2A12_chr6_133982581_134057624	134032405	AATATATA others(59): Show AATATATATATATATATATATTTATATATATATATATATATATAAATATA TATATATATATTTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00735.hp1 others(96): Show HG00140.hp2 HG00323.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18965.hp2 NA18970.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA19007.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19079.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0004c0007 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0049 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0008t0001 a0004c0007t0002 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0036 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0334 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0052 a0001c0001t0002g0087 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0133 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0262 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0308 a0001c0001t0002g0324 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0003g0035 a0001c0001t0004g0037 a0001c0001t0004g0103 a0001c0001t0004g0231 a0001c0001t0004g0263 a0001c0001t0007g0333 a0001c0001t0008g0216 a0001c0001t0008g0252 a0001c0001t0008g0309 a0001c0001t0009g0153 a0001c0001t0010g0130 a0001c0001t0010g0301 a0001c0001t0013g0152 a0001c0001t0013g0173 a0001c0001t0014g0101 a0001c0001t0016g0039 a0001c0001t0016g0062 a0001c0001t0018g0034 a0001c0001t0021g0223 a0001c0001t0030g0313 a0001c0001t0033g0095 a0001c0001t0034g0137 a0001c0001t0035g0128 a0001c0001t0049g0023 a0001c0001t0060g0172 a0001c0002t0001g0070 a0001c0002t0002g0317 a0001c0002t0004g0069 a0001c0002t0004g0071 a0001c0002t0007g0068 a0001c0008t0001g0109 a0004c0007t0002g0269 a0005c0004t0001g0007	99	338	0.2929	-66	c.104 others(83): Show c.104-2750_104-2685delATAAAAATATATATATATATATTTATAT ATATATATATATATATAAATATATATATATATATATAT	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	1/4			chr6	TogoVar
SLC39A10_chr2_195652226_195742700	195740597	GTGTGTGT others(59): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATAC ATATACACACACACATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02809.hp1 others(9): Show HG02280.hp1 HG02486.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0009 a0002c0002t0018 others(1): Show a0001c0001t0009 a0002c0002t0009 a0002c0002t0018 a0002c0002t0038	a0001c0001t0009g0052 a0002c0002t0009g0010 a0002c0002t0009g0011 others(7): Show a0001c0001t0009g0052 a0002c0002t0009g0010 a0002c0002t0009g0011 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0018g0036 a0002c0002t0018g0037 a0002c0002t0018g0038 a0002c0002t0018g0039 a0002c0002t0038g0035	12	376	0.0319	-66	c.55 others(77): Show c.5557_*5622delTGTGTGTGTGTGTGTGTGTATATATATATATATA TATATATATATATACATATACACACACACATA	SLC39A10	ENSG00000196950.14	transcript	ENST00000359634.10	protein_coding		2898		chr2	TogoVar
SLC39A12_chr10_17946918_18048285	18041618	CATATGTA others(59): Show CATATGTATATATGTGTATATATATGTATATACATATGTATATATGTGTA TATATATGTATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0003 a0005c0008t0001g0003	2	368	0.0054	-66	c.194 others(85): Show c.1948-1084_1948-1019delATGTATATATGTGTATATATATGTAT ATACATATGTATATATGTGTATATATATGTATATACATAT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A12_chr10_17946918_18048285	18041633	GTATATAT others(59): Show GTATATATATGTATATACATATGTATATATGTGTATATATATGTATATAC ATATGTATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02257.hp2 HG02723.hp2	a0003 a0004 a0003 a0004	a0003c0014 a0004c0016 a0003c0014 a0004c0016	a0003c0014t0001 a0004c0016t0001 a0003c0014t0001 a0004c0016t0001	a0003c0014t0001g0284 a0004c0016t0001g0277 a0003c0014t0001g0284 a0004c0016t0001g0277	2	368	0.0054	-66	c.194 others(84): Show c.1948-1064_1948-999delATGTATATACATATGTATATATGTGTA TATATATGTATATACATATGTATATATGTGTATATATAT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC43A2_chr17_1564268_1633834	1623689	TCCTCCTC others(59): Show TCCTCCTCTCCTCCAGGCTGTACCCTCCTCTCCTCCAGGCTGTACCCTCC TCTCCTCCAGGCTGTAC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0253 a0001c0001t0045g0253	1	382	0.0026	-66	c.160 others(83): Show c.160+3960_160+4025delGTACAGCCTGGAGGAGAGGAGGGTACAG CCTGGAGGAGAGGAGGGTACAGCCTGGAGGAGAGGAGG	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	2/13			chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141252611	GTGCATCT others(59): Show GTGCATCTGTGAATTTCCGTGTTTTCATGCCCACCTGCGTCTGTGAATTT CCGTTTTCACGCCCACC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 HG02040.hp2 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0071 a0002c0001t0001g0125 a0002c0001t0001g0071 a0002c0001t0001g0125	2	188	0.0106	-66	c.241 others(83): Show c.241+1312_241+1377delGGTGGGCGTGAAAACGGAAATTCACAGA CGCAGGTGGGCATGAAAACACGGAAATTCACAGATGCA	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141252647	GCGTCTGT others(59): Show GCGTCTGTGAATTTCCGTTTTCACGCCCACCTGTGCGTCTGTGAATTTCC GTGTTTTCACGCCCACC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19088.hp2 HG03688.hp2 NA19088.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0003 a0002c0001t0001 a0002c0001t0003	a0002c0001t0001g0109 a0002c0001t0003g0182 a0002c0001t0001g0109 a0002c0001t0003g0182	2	188	0.0106	-66	c.241 others(83): Show c.241+1276_241+1341delGGTGGGCGTGAAAACACGGAAATTCACA GACGCACAGGTGGGCGTGAAAACGGAAATTCACAGACG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC8A1_chr2_40092270_40457090	40200173	GATATATA others(59): Show GATATATATATATATATATTTATATATATATATAAATATATATATATTTT TTTATATATATATATAA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18975.hp2 NA19004.hp1 NA18952.hp1 NA18975.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0154 a0001c0001t0001 a0001c0001t0154	a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0154g0036 a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0154g0036	3	236	0.0127	-66	c.180 others(87): Show c.1809-21746_1809-21681delTTATATATATATATAAAAAAATAT ATATATATTTATATATATATATAAATATATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMURF2_chr17_64537282_64667307	64573208	AGGGGAGG others(59): Show AGGGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGG AGGAGGAGGAGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG03041.hp1 others(3): Show HG02109.hp2 HG02486.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 others(3): Show a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0005g0142 a0001c0003t0005g0143	6	174	0.0345	-66	c.858 others(83): Show c.858-1318_858-1253delCTCCTCCTCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCTCCTCCTCCTCCCCTCCTCCTCCCC	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	9/18			chr17	TogoVar

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