Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(75): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG04115.hp1 HG01081.hp2 HG01106.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0073 a0001c0001t0030 a0001c0001t0073	a0001c0001t0030g0005 a0001c0001t0073g0013 a0001c0001t0030g0005 a0001c0001t0073g0013	3	354	0.0085	-82	c.65 others(91): Show c.659_*740delATATATATATATATATATATATATATATATATATAT ATATATATATATATATAATATAATATATATATATATATATATATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	659		chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(75): Show AATATATATATATATATATATATTATATTATATATATATATATATATATA TATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0015 a0001c0001t0158g0015	1	354	0.0028	-82	c.65 others(91): Show c.657_*738delATATATATATATATATATATATATATATATATATAT ATATATATATATATATATAATATAATATATATATATATATATATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	657		chr1	TogoVar
PXDN_chr2_1626887_1749515	1703714	GGGGGGGC others(75): Show GGGGGGGCAACTCCAGGTGAAGGGGGGGGCAACTCCAGGTGAAGGGGGGC AACTCCAGGTGAAGGGAGGGCAACTCCAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0304 a0001c0006t0027g0304	1	322	0.0031	-82	c.201 others(101): Show c.201-10662_201-10581delTCACCTGGAGTTGCCCTCCCTTCACC TGGAGTTGCCCCCCTTCACCTGGAGTTGCCCCCCCCTTCACCTGGAGTTG CCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RASA3_chr13_113972783_114137623	114103682	TGATGACA others(75): Show TGATGACACCGGAGCCCGAGTCTCGGCTCAGCACCACCACCCCCGATGCG TCCACACTGCCACGGCCACAGACACCCACCCCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	-82	c.55+ others(99): Show c.55+28671_55+28752delGGGGGTGGGTGTCTGTGGCCGTGGCAGT GTGGACGCATCGGGGGTGGTGGTGCTGAGCCGAGACTCGGGCTCCGGTGT CATC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7029139	TGTGTATA others(75): Show TGTGTATATATGTATATATATACACATATATATACGTATACGTGTATATA TACACATATGTATACGTATACGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG02630.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0039 a0001c0001t0008g0034 a0001c0001t0007g0039 a0001c0001t0008g0034	2	68	0.0294	-82	c.-15 others(101): Show c.-15-22917_-15-22836delGTGTATATATGTATATATATACACAT ATATATACGTATACGTGTATATATACACATATGTATACGTATACGTATAT ATATAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBM20_chr10_110639336_110844468	110767084	CCCCCCCA others(75): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGACCCCCCCCACCTCCCTC CCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01516.hp2 HG01175.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0100 a0001c0003t0001g0026 a0001c0001t0001g0100 a0001c0003t0001g0026	2	268	0.0075	-82	c.192 others(101): Show c.192-13710_192-13629delACCTCCCTCCCGGACGGGGCGGCTGA CCCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCC	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RNFT2_chr12_116733315_116858631	116841812	TATATAAA others(75): Show TATATAAAAATATATATATATAAATATATATATAAATATATATAAAAATA TATATATAAATATATATATAAATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0114 a0001c0001t0045g0114	1	268	0.0037	-82	c.120 others(101): Show c.1200+5536_1200+5617delAAAATATATATATATAAATATATATA TAAATATATATAAAAATATATATATAAATATATATATAAATATATATAAA AATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPS6KA6_chrX_84053350_84193199	84191533	TATATATA others(75): Show TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0081 a0001c0001t0090g0081	1	272	0.0037	-82	c.-37 others(93): Show c.-3716_-3635delGGATATATATATGGATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3335		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191659	TATATATA others(75): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01123.hp1 HG01243.hp1 others(3): Show HG01069.hp1 HG01123.hp1 HG01243.hp1 HG01952.hp1 HG02148.hp1 HG02683.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0027 a0001c0001t0028 others(2): Show a0001c0001t0005 a0001c0001t0027 a0001c0001t0028 a0001c0001t0108 a0003c0003t0002	a0001c0001t0005g0171 a0001c0001t0005g0227 a0001c0001t0027g0170 others(3): Show a0001c0001t0005g0171 a0001c0001t0005g0227 a0001c0001t0027g0170 a0001c0001t0028g0168 a0001c0001t0108g0245 a0003c0003t0002g0203	6	272	0.0221	-82	c.-38 others(93): Show c.-3842_-3761delGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3461		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191783	TATATATA others(75): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	272	0.0037	-82	c.-39 others(93): Show c.-3966_-3885delGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3585		chrX	TogoVar
RSU1_chr10_16585611_16822424	16645924	ATATACAC others(75): Show ATATACACATATGTGTATATATATGTGTATATACATATATGTGTATATAT ATGTGTATATACATATATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01884.hp2 others(5): Show HG00140.hp2 HG01070.hp2 HG01884.hp2 HG02055.hp2 HG02965.hp1 HG02970.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0011 a0001c0001t0034 others(4): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0034 a0001c0001t0049 a0001c0001t0050 a0001c0002t0015 a0001c0002t0056	a0001c0001t0004g0022 a0001c0001t0011g0030 a0001c0001t0011g0032 others(5): Show a0001c0001t0004g0022 a0001c0001t0011g0030 a0001c0001t0011g0032 a0001c0001t0034g0014 a0001c0001t0049g0160 a0001c0001t0050g0161 a0001c0002t0015g0168 a0001c0002t0056g0131	8	190	0.0421	-82	c.731 others(101): Show c.731+49017_731+49098delCACATATATATACACATATATGTATA TACACATATATATACACATATATGTATATACACATATATATACACATATG TGTATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SAMD9_chr7_93094518_93122979	93117721	GTCTAGAA others(75): Show GTCTAGAATTTCTAGGCTTAGAATACTATTTTTTGTTTTGAGGTATATTT GAAGCTTCTAATTGAAAAGTATATTTCTTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0050 a0002c0003t0002g0050	1	392	0.0026	-82	c.-11 others(98): Show c.-110+60_-110+141delTAGAAAGAAATATACTTTTCAATTAGAAG CTTCAAATATACCTCAAAACAAAAAATAGTATTCTAAGCCTAGAAATTCT AGA	SAMD9	ENSG00000205413.8	transcript	ENST00000379958.3	protein_coding	1/2			chr7	TogoVar
SASH3_chrX_129774949_129800201	129789075	CTGGGCAA others(75): Show CTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	307	0.0033	-82	c.300 others(97): Show c.300+499_300+580delTGGGCAACAGAGCAAGACTCTGTCTCAAAA AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SATB2_chr2_199264505_199462939	199361924	AGATGGGG others(75): Show AGATGGGGTTTCATCATGTTAGCCAGGATGCTCTCAACCTCCTGACCTTG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	254	0.0039	-82	c.700 others(99): Show c.700+6599_700+6680delCTAGCACTTTGGGAGGCCGAGGCGGGTG GATCACAAGGTCAGGAGGTTGAGAGCATCCTGGCTAACATGATGAAACCC CATC	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	6/10			chr2	TogoVar
SAXO1_chr9_18922650_19038209	18942027	CCAACTCA others(75): Show CCAACTCAGACACCTGTATTCATCTTTGACCTCCTTTCCTCACGGCCCCA GAGTCTATCACCACCAGTGCCCCTCCACCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01074.hp1 others(46): Show HG00099.hp2 HG01070.hp1 HG01074.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0012 a0020	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0015 a0008c0009 a0009c0010 a0010c0020 a0012c0013 a0020c0026	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(22): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0002c0002t0002 a0002c0002t0025 a0002c0002t0030 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0011 a0003c0003t0012 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0020 a0003c0003t0028 a0004c0015t0003 a0008c0009t0005 a0009c0010t0008 a0010c0020t0011 a0012c0013t0011 a0020c0026t0008	a0001c0001t0006g0141 a0001c0001t0008g0104 a0001c0001t0008g0105 others(45): Show a0001c0001t0006g0141 a0001c0001t0008g0104 a0001c0001t0008g0105 a0001c0001t0008g0142 a0001c0001t0008g0145 a0001c0001t0012g0002 a0001c0001t0017g0140 a0001c0001t0018g0240 a0001c0001t0018g0241 a0002c0002t0002g0080 a0002c0002t0025g0013 a0002c0002t0030g0237 a0003c0003t0003g0155 a0003c0003t0003g0159 a0003c0003t0003g0161 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0184 a0003c0003t0003g0185 a0003c0003t0003g0189 a0003c0003t0003g0234 a0003c0003t0005g0183 a0003c0003t0006g0134 a0003c0003t0006g0135 a0003c0003t0006g0137 a0003c0003t0007g0347 a0003c0003t0011g0157 a0003c0003t0011g0166 a0003c0003t0011g0172 a0003c0003t0011g0194 a0003c0003t0011g0236 a0003c0003t0012g0349 a0003c0003t0013g0011 a0003c0003t0014g0099 a0003c0003t0017g0131 a0003c0003t0020g0097 a0003c0003t0020g0101 a0003c0003t0028g0100 a0004c0015t0003g0156 a0008c0009t0005g0180 a0009c0010t0008g0136 a0009c0010t0008g0138 a0010c0020t0011g0164 a0012c0013t0011g0231 a0012c0013t0011g0235 a0020c0026t0008g0120	49	364	0.1346	-82	c.219 others(97): Show c.219-270_219-189delATGAGGTGGAGGGGCACTGGTGGTGATAGA CTCTGGGGCCGTGAGGAAAGGAGGTCAAAGATGAATACAGGTGTCTGAGT TG	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	2/3			chr9	TogoVar
SCFD2_chr4_52867982_53371061	53237775	CCCCCCCA others(75): Show CCCCCCCACCTCCATCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19060.hp2 NA18970.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	162	0.0124	-82	c.131 others(103): Show c.1311+35969_1311+36050delCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGATGGAG GTGGGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCN9A_chr2_166190185_166380944	166191652	TATATATA others(75): Show TATATATATATATATATATATATATATATACACACACATATATATATATG TATATATATATATATACACACATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0149 a0001c0001t0015g0149	1	296	0.0034	-82	c.69 others(93): Show c.6938_*7019delGTATATATATATGTGTGTATATATATATATATAC ATATATATATATGTGTGTGTATATATATATATATATATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3532		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1276537	GGCATGAT others(75): Show GGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCCATTGAGTC TCCTGCCCCAGCCTCCTGAGCAGCTGGAACTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	290	0.0035	-82	c.-41 others(93): Show c.-4124_-4043delGCATGATCTCGGCTCACTGCAACCTCCGCCTCCC AGGTTCCATTGAGTCTCCTGCCCCAGCCTCCTGAGCAGCTGGAACTAC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		3898		chr1	TogoVar
SDK1_chr7_3296252_4274000	4194328	GTATGTGT others(75): Show GTATGTGTATACATGTATAGATATATGTATGCACGTATGTGTATACATGT ATGTGTATACATGTATACATATATGTATGCACA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01081.hp1 others(31): Show HG00558.hp2 HG00639.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG02258.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0015 a0021 a0029 a0034	a0001c0004 a0001c0005 a0001c0010 others(28): Show a0001c0004 a0001c0005 a0001c0010 a0001c0025 a0001c0026 a0001c0046 a0001c0059 a0001c0064 a0001c0072 a0001c0088 a0001c0093 a0001c0095 a0002c0030 a0002c0042 a0002c0043 a0002c0066 a0003c0001 a0003c0047 a0005c0057 a0005c0058 a0006c0016 a0006c0077 a0007c0006 a0007c0044 a0008c0078 a0009c0019 a0010c0079 a0015c0074 a0021c0068 a0029c0084 a0034c0052	a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 others(31): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 a0001c0010t0002 a0001c0025t0024 a0001c0026t0002 a0001c0046t0022 a0001c0059t0027 a0001c0064t0006 a0001c0072t0065 a0001c0088t0009 a0001c0093t0006 a0001c0095t0029 a0002c0030t0034 a0002c0042t0002 a0002c0043t0035 a0002c0066t0023 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0047t0038 a0005c0057t0013 a0005c0058t0012 a0006c0016t0001 a0006c0077t0003 a0007c0006t0012 a0007c0044t0001 a0008c0078t0001 a0009c0019t0074 a0010c0079t0054 a0015c0074t0042 a0021c0068t0014 a0029c0084t0045 a0034c0052t0032	a0001c0004t0001g0039 a0001c0005t0001g0023 a0001c0005t0051g0030 others(31): Show a0001c0004t0001g0039 a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0010t0002g0085 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0046t0022g0091 a0001c0059t0027g0090 a0001c0064t0006g0111 a0001c0072t0065g0027 a0001c0088t0009g0048 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0030t0034g0083 a0002c0042t0002g0105 a0002c0043t0035g0079 a0002c0066t0023g0089 a0003c0001t0003g0037 a0003c0001t0059g0024 a0003c0001t0063g0032 a0003c0047t0038g0082 a0005c0057t0013g0045 a0005c0058t0012g0063 a0006c0016t0001g0114 a0006c0077t0003g0099 a0007c0006t0012g0115 a0007c0044t0001g0020 a0008c0078t0001g0074 a0009c0019t0074g0009 a0010c0079t0054g0073 a0015c0074t0042g0081 a0021c0068t0014g0014 a0029c0084t0045g0011 a0034c0052t0032g0107	34	116	0.2931	-82	c.509 others(103): Show c.5099-11532_5099-11451delGATATATGTATGCACGTATGTGTA TACATGTATGTGTATACATGTATACATATATGTATGCACATATGTGTATA CATGTATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC23A_chr14_39026919_39108235	39094227	TATATATA others(75): Show TATATATATATGCATATATACACATATACATATATATGCATATATACACA TATACACATATATATGCATATATACACATATAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	366	0.0027	-82	c.222 others(98): Show c.222-1065_222-984delGTATATGTGTATATATGCATATATATGTG TATATGTGTATATATGCATATATATGTATATGTGTATATATGCATATATA TAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEMA5A_chr5_9030033_9551075	9191881	AGTGTGAG others(75): Show AGTGTGAGTTTAGGTGAAGGGCTCAGCCCTGCCATGACCCATGTGTGAGT TTAGGTGAAGGGCTCAGCCCTGCCATGACCCAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0059 a0001c0001t0035g0059	1	134	0.0075	-82	c.106 others(101): Show c.1069-1492_1069-1411delATGGGTCATGGCAGGGCTGAGCCCTT CACCTAAACTCACACATGGGTCATGGCAGGGCTGAGCCCTTCACCTAAAC TCACAC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	10/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9380874	GAGTGTAA others(75): Show GAGTGTAATGCTGGAGGATAAAGAGGATTTCAACAGATGGAGGTTTCTGG AAGGACGTTCCGTCCCCAGGGAGGAGGATGAAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	134	0.0075	-82	c.-77 others(97): Show c.-77-933_-77-852delTTTCATCCTCCTCCCTGGGGACGGAACGTC CTTCCAGAAACCTCCATCTGTTGAAATCCTCTTTATCCTCCAGCATTACA CT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEPTIN8_chr5_132745819_132782239	132770055	GTGTGTGT others(75): Show GTGTGTGTGTATATATATATATATATGTATATATGTATATATATATGTAT ATATGTATATATATATATATGTATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	326	0.0031	-82	c.31- others(97): Show c.31-4608_31-4527delTACACATATATACATATATATATATATACA TATATACATATATATATACATATATACATATATATATATATATACACACA CA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SETX_chr9_132256356_132359986	132269836	CGAGACAC others(75): Show CGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACA GGTGGATTCTAGAATGACTCAGCATCCTCATGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(175): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01099.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0002 a0003 a0004 others(18): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0013 a0017 a0018 a0021 a0022 a0028 a0031 a0033 a0035 a0036 a0039 a0042 a0044	a0002c0002 a0003c0003 a0003c0024 others(23): Show a0002c0002 a0003c0003 a0003c0024 a0003c0053 a0004c0005 a0005c0004 a0006c0007 a0006c0047 a0007c0006 a0007c0016 a0007c0036 a0009c0010 a0011c0015 a0013c0014 a0017c0022 a0018c0029 a0021c0023 a0022c0021 a0028c0054 a0031c0052 a0033c0044 a0035c0056 a0036c0031 a0039c0057 a0042c0055 a0044c0040	a0002c0002t0003 a0002c0002t0014 a0002c0002t0024 others(30): Show a0002c0002t0003 a0002c0002t0014 a0002c0002t0024 a0002c0002t0033 a0003c0003t0002 a0003c0003t0007 a0003c0003t0021 a0003c0024t0002 a0003c0053t0002 a0004c0005t0003 a0005c0004t0002 a0006c0007t0005 a0006c0047t0003 a0007c0006t0003 a0007c0006t0013 a0007c0016t0011 a0007c0036t0011 a0009c0010t0002 a0011c0015t0002 a0013c0014t0003 a0013c0014t0025 a0017c0022t0002 a0018c0029t0002 a0021c0023t0003 a0022c0021t0001 a0028c0054t0002 a0031c0052t0007 a0033c0044t0003 a0035c0056t0007 a0036c0031t0003 a0039c0057t0003 a0042c0055t0003 a0044c0040t0005	a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0007 others(174): Show a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0018 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0232 a0002c0002t0014g0002 a0002c0002t0014g0003 a0002c0002t0024g0050 a0002c0002t0033g0025 a0003c0003t0002g0054 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0263 a0003c0003t0007g0167 a0003c0003t0007g0168 a0003c0003t0007g0172 a0003c0003t0007g0177 a0003c0003t0007g0179 a0003c0003t0021g0073 a0003c0024t0002g0066 a0003c0024t0002g0069 a0003c0053t0002g0199 a0004c0005t0003g0119 a0005c0004t0002g0051 a0005c0004t0002g0052 a0005c0004t0002g0055 a0005c0004t0002g0084 a0005c0004t0002g0087 a0005c0004t0002g0088 a0005c0004t0002g0089 a0005c0004t0002g0090 a0005c0004t0002g0091 a0005c0004t0002g0092 a0005c0004t0002g0094 a0005c0004t0002g0095 a0005c0004t0002g0097 a0005c0004t0002g0098 a0005c0004t0002g0099 a0005c0004t0002g0100 a0005c0004t0002g0101 a0005c0004t0002g0102 a0005c0004t0002g0103 a0005c0004t0002g0104 a0005c0004t0002g0105 a0005c0004t0002g0106 a0005c0004t0002g0107 a0005c0004t0002g0108 a0005c0004t0002g0123 a0005c0004t0002g0124 a0005c0004t0002g0125 a0005c0004t0002g0126 a0005c0004t0002g0128 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0002g0131 a0005c0004t0002g0132 a0005c0004t0002g0148 a0005c0004t0002g0222 a0006c0007t0005g0133 a0006c0007t0005g0134 a0006c0007t0005g0135 a0006c0007t0005g0136 a0006c0007t0005g0138 a0006c0007t0005g0139 a0006c0007t0005g0140 a0006c0007t0005g0141 a0006c0007t0005g0142 a0006c0007t0005g0158 a0006c0007t0005g0159 a0006c0007t0005g0160 a0006c0007t0005g0161 a0006c0007t0005g0162 a0006c0007t0005g0164 a0006c0007t0005g0165 a0006c0007t0005g0183 a0006c0047t0003g0341 a0007c0006t0003g0001 a0007c0006t0003g0236 a0007c0006t0003g0237 a0007c0006t0003g0238 a0007c0006t0003g0239 a0007c0006t0003g0240 a0007c0006t0003g0241 a0007c0006t0003g0242 a0007c0006t0003g0244 a0007c0006t0003g0245 a0007c0006t0003g0246 a0007c0006t0003g0250 a0007c0006t0003g0254 a0007c0006t0003g0284 a0007c0006t0013g0243 a0007c0006t0013g0249 a0007c0006t0013g0251 a0007c0016t0011g0247 a0007c0016t0011g0248 a0007c0036t0011g0356 a0009c0010t0002g0262 a0009c0010t0002g0311 a0009c0010t0002g0312 a0009c0010t0002g0314 a0011c0015t0002g0174 a0011c0015t0002g0175 a0011c0015t0002g0176 a0013c0014t0003g0150 a0013c0014t0003g0153 a0013c0014t0025g0152 a0017c0022t0002g0017 a0017c0022t0002g0019 a0018c0029t0002g0074 a0018c0029t0002g0173 a0021c0023t0003g0013 a0021c0023t0003g0014 a0022c0021t0001g0044 a0022c0021t0001g0046 a0028c0054t0002g0198 a0031c0052t0007g0166 a0033c0044t0003g0086 a0035c0056t0007g0171 a0036c0031t0003g0252 a0039c0057t0003g0005 a0042c0055t0003g0031 a0044c0040t0005g0163	178	362	0.4917	-82	c.720 others(99): Show c.7200-216_7200-135delACATGAGGATGCTGAGTCATTCTAGAAT CCACCTGTGTCTCACACGGGCACGCTGAGTCATTCTAGAGTCCACCTGTG TCTC	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	24/25			chr9	TogoVar
SFSWAP_chr12_131706090_131804738	131734788	TCTCCCTG others(75): Show TCTCCCTGCGTGCGCACGTCTACGTACGCTCGTGTATGCTGAGGAGCAGG CATTGGAACATGACGGAGCTGCTGCTGCTGCAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	318	0.0031	-82	c.108 others(101): Show c.1081+6362_1081+6443delTCCCTGCGTGCGCACGTCTACGTACG CTCGTGTATGCTGAGGAGCAGGCATTGGAACATGACGGAGCTGCTGCTGC TGCAGC	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGK1_chr6_134164256_134323112	134213549	AATGTCCT others(75): Show AATGTCCTCATGAAACACCTGTGGCTTAGCATTCCAGCCTGGGTGACAAG AGCAAAACTCTGTCTCAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03831.hp2 HG01517.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0222 a0001c0001t0001g0154 a0001c0001t0001g0222	2	250	0.0080	-82	c.286 others(99): Show c.286-6200_286-6119delATTTATTTATTTATTTTGAGACAGAGTT TTGCTCTTGTCACCCAGGCTGGAATGCTAAGCCACAGGTGTTTCATGAGG ACAT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGTA_chr19_2749715_2788273	2772765	ATGGGTGA others(75): Show ATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01261.hp2 HG02080.hp1 others(34): Show HG00621.hp2 HG01261.hp2 HG02080.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp2 NA18977.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19086.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0005 a0001c0003t0021 others(2): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0021 a0001c0004t0003 a0001c0004t0017	a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 others(34): Show a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0144 a0001c0003t0003g0159 a0001c0003t0003g0169 a0001c0003t0003g0177 a0001c0003t0003g0188 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0021g0143 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0135 a0001c0004t0003g0145 a0001c0004t0003g0146 a0001c0004t0003g0147 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0004t0003g0161 a0001c0004t0017g0148	37	396	0.0934	-82	c.-23 others(99): Show c.-23-3756_-23-3675delCCTCTGCCCTCGGTGTCCCTGCCCTGTG GCCGCGTCACCCATCTCTGCCCTCGGTGTCCCTGCCGTGTGGCCGCGTCA CCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2772970	GTGGGTGA others(75): Show GTGGGTGACGCAGCCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCAGGGACACCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02922.hp1 NA18522.hp2 others(2): Show HG02165.hp1 HG02922.hp1 NA18522.hp2 NA18984.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0002 a0001c0003t0004 a0001c0005t0002 a0001c0002t0002 a0001c0003t0004 a0001c0005t0002	a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0080 others(2): Show a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0003t0004g0063 a0001c0005t0002g0067	5	396	0.0126	-82	c.-23 others(99): Show c.-23-3961_-23-3880delTCTCTGCCCTCGGTGTCCCTGCCGTGTG GCCGCGTCACCCACCTCTGCCCTCGGAGTCCCTGCCGTGTGGCTGCGTCA CCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773238	AGGGACAC others(75): Show AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACC GAGGGCAGAGATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	396	0.0025	-82	c.-23 others(99): Show c.-23-4229_-23-4148delCGCCGTGTGGCCGCGTCACCCATCTCTG CCCTCGGTGTCCCTGCCCTGTGGCCGCGTCACCCATCTCTGCCCTCGGTG TCCC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773585	GTGGGTGA others(75): Show GTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(69): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02922.hp1 HG03239.hp1 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19067.hp2 NA19070.hp1 NA19084.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0011	a0001c0002t0002 a0001c0003t0003 a0001c0005t0002 others(3): Show a0001c0002t0002 a0001c0003t0003 a0001c0005t0002 a0001c0008t0009 a0001c0010t0002 a0001c0011t0002	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0010 others(55): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0127 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0003t0003g0052 a0001c0003t0003g0139 a0001c0005t0002g0034 a0001c0005t0002g0067 a0001c0008t0009g0090 a0001c0008t0009g0123 a0001c0010t0002g0066 a0001c0011t0002g0076	72	396	0.1818	-82	c.-23 others(99): Show c.-23-4576_-23-4495delTCTCTGCCCTCGGTGTCCCTGCCCTGTG GCCGCGTCACCCATCTCTGCCCTCGGAGTCCCTGCCGTGTGGCCGTGTCA CCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773594	ACGGCCAC others(75): Show ACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACA GGGCAGGGACACCGAGGGCAGAGATGGGTGACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18612.hp1 NA18954.hp2 others(3): Show HG00280.hp2 NA18612.hp1 NA18954.hp2 NA18979.hp1 NA18995.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0019 a0001c0002t0002 a0001c0002t0019	a0001c0002t0002g0022 a0001c0002t0002g0085 a0001c0002t0002g0086 others(2): Show a0001c0002t0002g0022 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0168 a0001c0002t0019g0164	6	396	0.0152	-82	c.-23 others(99): Show c.-23-4585_-23-4504delCGTCACCCATCTCTGCCCTCGGTGTCCC TGCCCTGTGGCCGCGTCACCCATCTCTGCCCTCGGAGTCCCTGCCGTGTG GCCG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773872	GTGGGTGA others(75): Show GTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGAC GCGGCCACACGGCAGGGACTCCGAGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0335 a0001c0003t0005g0335	1	396	0.0025	-82	c.-23 others(99): Show c.-23-4863_-23-4782delTCTCTGCCCTCGGAGTCCCTGCCGTGTG GCCGCGTCACCCATCTCTGCCCTCGGAGTCCCTGCCGTGTGGCCGTGTCA CCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773900	TCCGAGGG others(75): Show TCCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGC AGAGATGGGTGACGCGGCCACAGGGCAGGGACA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18948.hp1 NA18952.hp2 others(5): Show NA18522.hp2 NA18948.hp1 NA18952.hp2 NA18970.hp2 NA18980.hp2 NA18986.hp2 NA19002.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0013 a0001c0003 a0003c0013	a0001c0003t0003 a0001c0003t0004 a0003c0013t0003 a0001c0003t0003 a0001c0003t0004 a0003c0013t0003	a0001c0003t0003g0052 a0001c0003t0003g0154 a0001c0003t0003g0155 others(5): Show a0001c0003t0003g0052 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0160 a0001c0003t0004g0063 a0003c0013t0003g0156	8	396	0.0202	-82	c.-23 others(99): Show c.-23-4891_-23-4810delTGTCCCTGCCCTGTGGCCGCGTCACCCA TCTCTGCCCTCGGAGTCCCTGCCGTGTGGCCGCGTCACCCATCTCTGCCC TCGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH2D1A_chrX_124341563_124378160	124350595	GAATATAT others(75): Show GAATATATTATATATTGTATATAAGATAATATATTATATATTGTATATAA GATATAATATATTATATATTGTATATAAGATAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	318	0.0031	-82	c.137 others(99): Show c.137+3926_137+4007delATATATTATATATTGTATATAAGATATA ATATATTATATATTGTATATAAGATATAATATATTATATATTGTATATAA GATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647191	CTCAGCCT others(75): Show CTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGG TAACTTTCTGGTATTTTTAGTAGAGACAGGGTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG02886.hp1 HG02886.hp2 others(3): Show HG01361.hp1 HG02886.hp1 HG02886.hp2 HG03453.hp2 HG03486.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0102 a0001c0001t0146 others(2): Show a0001c0001t0016 a0001c0001t0102 a0001c0001t0146 a0001c0001t0163 a0001c0001t0164	a0001c0001t0016g0069 a0001c0001t0016g0074 a0001c0001t0102g0100 others(3): Show a0001c0001t0016g0069 a0001c0001t0016g0074 a0001c0001t0102g0100 a0001c0001t0146g0182 a0001c0001t0163g0016 a0001c0001t0164g0080	6	220	0.0273	-82	c.28 others(93): Show c.2804_*2885delAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGC CACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2804	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647604	GGCCTCCC others(75): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00558.hp2 others(37): Show HG00099.hp1 HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG04184.hp1 NA18941.hp1 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18975.hp2 NA18981.hp2 NA18998.hp1 NA19003.hp1 NA19077.hp1 NA19077.hp2 NA19089.hp1 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0055 others(31): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0055 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0088 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0133 a0001c0001t0149 a0001c0001t0154 a0001c0001t0198 a0001c0001t0199 a0002c0002t0077 a0002c0002t0085 a0005c0004t0076	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0028 others(36): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0006g0010 a0001c0001t0006g0197 a0001c0001t0055g0026 a0001c0001t0066g0173 a0001c0001t0067g0136 a0001c0001t0068g0039 a0001c0001t0069g0102 a0001c0001t0070g0034 a0001c0001t0071g0178 a0001c0001t0072g0114 a0001c0001t0073g0201 a0001c0001t0074g0209 a0001c0001t0075g0141 a0001c0001t0078g0105 a0001c0001t0079g0027 a0001c0001t0080g0176 a0001c0001t0081g0151 a0001c0001t0082g0007 a0001c0001t0083g0106 a0001c0001t0086g0202 a0001c0001t0088g0175 a0001c0001t0098g0206 a0001c0001t0099g0068 a0001c0001t0100g0133 a0001c0001t0101g0196 a0001c0001t0103g0095 a0001c0001t0133g0188 a0001c0001t0149g0134 a0001c0001t0154g0036 a0001c0001t0198g0018 a0001c0001t0199g0017 a0002c0002t0077g0031 a0002c0002t0085g0045 a0005c0004t0076g0012	40	220	0.1818	-82	c.30 others(93): Show c.3050_*3131delAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGC CACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3050	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647768	GGCCTCCC others(75): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTACAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02886.hp1 others(7): Show HG02257.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG03453.hp2 HG03486.hp2 NA19002.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0084 a0001c0001t0087 others(6): Show a0001c0001t0016 a0001c0001t0084 a0001c0001t0087 a0001c0001t0150 a0001c0001t0163 a0001c0001t0164 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189	a0001c0001t0016g0069 a0001c0001t0016g0074 a0001c0001t0084g0048 others(7): Show a0001c0001t0016g0069 a0001c0001t0016g0074 a0001c0001t0084g0048 a0001c0001t0087g0128 a0001c0001t0150g0163 a0001c0001t0163g0016 a0001c0001t0164g0080 a0001c0001t0187g0071 a0001c0001t0188g0122 a0001c0001t0189g0067	10	220	0.0455	-82	c.32 others(93): Show c.3201_*3282delCAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGAT TACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3201	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647850	AGCCTCCC others(75): Show AGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG02165.hp2 HG00544.hp1 HG00558.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0147 a0001c0001t0148 a0001c0001t0139 a0001c0001t0147 a0001c0001t0148	a0001c0001t0139g0085 a0001c0001t0147g0210 a0001c0001t0148g0183 a0001c0001t0139g0085 a0001c0001t0147g0210 a0001c0001t0148g0183	3	220	0.0136	-82	c.33 others(93): Show c.3385_*3466delCGAGTAGCTGGGATTACAGGCACCTGCCACCAGG CCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3385	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	648103	TGAGTAGC others(75): Show TGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTG GTATTTTTAGTAGAGACAGGGTTTCAGCCTCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0107 a0001c0001t0135g0107	1	220	0.0046	-82	c.35 others(93): Show c.3529_*3610delGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGAT TACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3529	INFO_REALIGN_3_PRIME	chrX	TogoVar
SIRT2_chr19_38873560_38904618	38902484	TGCTTTTG others(75): Show TGCTTTTGTATGGTTGTGAGCTAAGAATGGTCTTTACATTTTTAAACAGT TTCTAAAAATCAAAAGAATAATAATATTATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(337): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0003c0010 a0004c0008 a0005c0004 a0006c0007 a0007c0005 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0010t0001 a0004c0008t0004 a0005c0004t0002 a0006c0007t0002 a0007c0005t0001 a0008c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(254): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0085 a0001c0001t0003g0091 a0001c0001t0003g0159 a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0269 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0315 a0001c0001t0004g0021 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0066 a0001c0001t0004g0148 a0001c0001t0004g0154 a0001c0001t0004g0177 a0001c0001t0004g0301 a0001c0001t0006g0135 a0001c0001t0008g0189 a0001c0001t0009g0191 a0001c0003t0001g0133 a0002c0002t0001g0264 a0002c0002t0002g0121 a0003c0010t0001g0147 a0004c0008t0004g0139 a0005c0004t0002g0055 a0006c0007t0002g0294 a0007c0005t0001g0183 a0008c0012t0002g0168	340	426	0.7981	-82	c.-30 others(93): Show c.-3045_-2964delCATATAATATTATTATTCTTTTGATTTTTAGAAA CTGTTTAAAAATGTAAAGACCATTCTTAGCTCACAACCATACAAAAGC	SIRT2	ENSG00000068903.21	transcript	ENST00000249396.12	protein_coding		2867		chr19	TogoVar
SLC22A1_chr6_160116815_160163718	160125692	GTGCTAAG others(75): Show GTGCTAAGATCATGAGGTCCACTCGGGGAGGATGTGGGCATTTTCCTGGC TTTTGACTCTCCCAACAAGAGGATCTCCTCTTC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	416	0.0024	-82	c.411 others(99): Show c.411+3374_411+3455delAGGATGTGGGCATTTTCCTGGCTTTTGA CTCTCCCAACAAGAGGATCTCCTCTTCTGCTAAGATCATGAGGTCCACTC GGGG	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC22A1_chr6_160116815_160163718	160126674	CTGGTGCT others(75): Show CTGGTGCTAAGATCATGAGGTCCACTGGGGAGGGATGTGGGCAGTTTCCT GGCTTTTGACTCTCCCAACAAGAGGATCTCCTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02976.hp2 others(2): Show HG02055.hp2 HG02622.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0012 a0001c0024 a0001c0025 a0001c0012 a0001c0024 a0001c0025	a0001c0012t0001 a0001c0024t0001 a0001c0025t0001 a0001c0012t0001 a0001c0024t0001 a0001c0025t0001	a0001c0012t0001g0337 a0001c0012t0001g0339 a0001c0012t0001g0340 others(2): Show a0001c0012t0001g0337 a0001c0012t0001g0339 a0001c0012t0001g0340 a0001c0024t0001g0341 a0001c0025t0001g0338	5	416	0.0120	-82	c.412 others(99): Show c.412-3404_412-3323delGGGGAGGGATGTGGGCAGTTTCCTGGCT TTTGACTCTCCCAACAAGAGGATCTCCTGTGGTGCTAAGATCATGAGGTC CACT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC29A4_chr7_5277943_5311912	5282364	AGGAAGAG others(75): Show AGGAAGAGTGAGGAGGAGAAAGGGAGGAGGGTGGAGGGGAGGGGAGAAGG GAGGAGAGCAGGAGGAGGGTAATGGAGGACTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0188 a0001c0001t0188	a0001c0001t0188g0024 a0001c0001t0188g0024	1	408	0.0025	-82	c.-72 others(91): Show c.-726_-645delGGAAGAGTGAGGAGGAGAAAGGGAGGAGGGTGGAGG GGAGGGGAGAAGGGAGGAGAGCAGGAGGAGGGTAATGGAGGACTTT	SLC29A4	ENSG00000164638.11	transcript	ENST00000396872.8	protein_coding		578		chr7	TogoVar
SLC6A3_chr5_1387794_1450440	1392895	CCCCTCCC others(75): Show CCCCTCCCCAGAAGGCGATGGGGAAGCCGCTCTCTGTGCTGACTGCAGCA GCCAGAAGGCGATGGGGAAGCTGTCCTCTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03516.hp2 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0172 a0001c0002t0023g0173 a0001c0002t0023g0172 a0001c0002t0023g0173	2	373	0.0054	-82	c.17 others(93): Show c.1758_*1839delACACAGAGGACAGCTTCCCCATCGCCTTCTGGCT GCTGCAGTCAGCACAGAGAGCGGCTTCCCCATCGCCTTCTGGGGAGGG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	15/15	1758		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168654063	CTCCTGAG others(75): Show CTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTGTACCTGAGC TCCAACCAAATGTTAGGAACTCACCAACCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp2 others(5): Show HG00099.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01496.hp2 HG02074.hp2 NA19068.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0094 a0001c0001t0001g0142 a0001c0001t0004g0118 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0142 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102	8	180	0.0444	-82	c.128 others(99): Show c.1285+836_1285+917delTCCTGAGCTCCAACCAAATGTTAGGAAC TCACCAACCCTGTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACC CTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654514	TACCTGAG others(75): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	180	0.0056	-82	c.128 others(101): Show c.1285+1957_1285+2038delCAGATGTTAGGAACTCACCAACCCTG CACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246395642	ACAGTCAG others(75): Show ACAGTCAGACAGGGAAGACGAACCCACCACAGTCAGACAGGGAAGACGAA CCCACCATGGCTGGACAGGGAAGACGAACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01081.hp2 others(32): Show HG00597.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02647.hp2 HG02809.hp2 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18965.hp1 NA18971.hp1 NA19000.hp1 NA19057.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0012 others(4): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0005 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0004c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0042 others(32): Show a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0078 a0001c0002t0002g0088 a0001c0012t0002g0074 a0002c0003t0001g0099 a0002c0003t0001g0103 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0002g0110 a0002c0004t0001g0113 a0002c0005t0001g0136 a0004c0010t0001g0031	35	150	0.2333	-82	c.165 others(101): Show c.165-40630_165-40549delGTGTGTTCGTCTTCCCTGTCCAGCCA TGGTGGGTTCGTCTTCCCTGTCTGACTGTGGTGGGTTCGTCTTCCCTGTC TGACTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(75): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01516.hp1 HG01517.hp1 others(8): Show HG01070.hp1 HG01516.hp1 HG01517.hp1 HG02109.hp1 HG03486.hp1 HG03486.hp2 HG03834.hp1 NA18951.hp1 NA18969.hp2 NA18974.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0001c0012 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 a0001c0007t0002 a0001c0009t0001 a0001c0012t0001 a0002c0004t0009	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 others(8): Show a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0262 a0001c0001t0002g0206 a0001c0001t0035g0208 a0001c0007t0002g0279 a0001c0009t0001g0211 a0001c0012t0001g0041 a0002c0004t0009g0254	11	282	0.0390	-82	c.687 others(99): Show c.687+4183_687+4264delGTGTGTGTGTGTTTTCCCTCCTTGGTGA TTCTAGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SORCS2_chr4_7187538_7747827	7724539	GTGATAGT others(75): Show GTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGG TGTTGGTGATGGTGGTGATAGTGCTGGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 NA18522.hp1 HG02280.hp1 HG03209.hp2 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0037 a0005c0020 a0001c0001 a0001c0037 a0005c0020	a0001c0001t0013 a0001c0037t0020 a0005c0020t0020 a0001c0001t0013 a0001c0037t0020 a0005c0020t0020	a0001c0001t0013g0125 a0001c0037t0020g0017 a0005c0020t0020g0037 a0001c0001t0013g0125 a0001c0037t0020g0017 a0005c0020t0020g0037	3	168	0.0179	-82	c.261 others(99): Show c.2612-612_2612-531delATAGTAGTGGTGGGAATGGATGGTGGTG GTGATGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGCTGGTGAG GATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2347755	CTCTCTCC others(75): Show CTCTCTCCACACACACACACTCTCATTCGCCTGATTCCGTTCTCTCTCTC CACACACACGCGCTCTCATTCGCCTGATTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0183 a0002c0005t0004g0183	1	414	0.0024	-82	c.135 others(101): Show c.1354+2432_1354+2513delCACACACACACACTCTCATTCGCCTG ATTCCGTTCTCTCTCTCCACACACACGCGCTCTCATTCGCCTGATTCCGT TCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar

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