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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCAMP5_chr15_74990563_75026495	74990952	C C	CTTCTTTC others(44): Show CTTCTTTCTTCTTTTTCTTCTCTTTCTCTCTTTCTCTTCTTTCTTTCTTT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	368	0.0027	51	c.-47 others(62): Show c.-4770_-4769insTTCTTTCTTCTTTTTCTTCTCTTTCTCTCTTTCT CTTCTTTCTTTCTTTCT		SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding					4610		chr15	TogoVar
SCGB1C1_chr11_188078_199575	196267	T T	TTGGTGAG others(44): Show TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01433.hp2 others(3): Show HG00280.hp1 HG00735.hp1 HG01433.hp2 HG01934.hp1 HG02004.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	351	0.0171	51	c.18 others(62): Show c.1817_*1818insTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACC		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1693		chr11	TogoVar
SCN11A_chr3_38840764_39056944	38877032	G G	GTATATAT others(44): Show GTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATAT AC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02630.hp1 HG01993.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0040 a0001c0002t0004g0260 a0001c0001t0002g0040 a0001c0002t0004g0260	2	312	0.0064	51	c.339 others(70): Show c.3393+2867_3393+2917dupGTATATACACCATATATATACCATAT ATATAGTATATACACCATATATATA		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTC CT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0212 a0001c0001t0009g0212	1	280	0.0036	51	c.-51 others(68): Show c.-51-4245_-51-4244insTTTCTTTCTTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTCCT		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26						chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43281506	T T	TCCCTCAG others(44): Show TCCCTCAGTCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACC TC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	252	0.0040	51	c.484 others(68): Show c.484+9539_484+9540insGAGGTGACAGGAGGGTGGCTGAGGAGGA GGTGACAGGAGGGTGACTGAGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCYGR6_chr2_227719440_227729757	227724482	G G	GCCCTTCT others(44): Show GCCCTTCTGCTGGCAACAGCCCTTCTGCTGGCAACAGCCCTTCTGCTGGC AA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03017.hp2 NA18961.hp1 NA18972.hp1 HG03017.hp2 NA18961.hp1 NA18972.hp1	a0007 a0011 a0007 a0011	a0007c0016 a0011c0026 a0007c0016 a0011c0026	a0007c0016t0001 a0011c0026t0001 a0007c0016t0001 a0011c0026t0001	a0007c0016t0001g0000 a0011c0026t0001g0000 a0007c0016t0001g0000 a0011c0026t0001g0000	3	314	0.0096	51	c.275 others(58): Show c.275_276insTTGCCAGCAGAAGGGCTGTTGCCAGCAGAAGGGCTGTT GCCAGCAGAAGGG	p.Cys others(62): Show p.Cys92_Cys93insCysGlnGlnLysGlyCysCysGlnGlnLysGlyC ysCysGlnGlnLysGly	SCYGR6	ENSG00000284725.1	transcript	ENST00000641918.1	protein_coding	1/1	275/318	275/318	92/105			chr2	TogoVar
SCYGR7_chr2_227723335_227733625	227724482	G G	GCCCTTCT others(44): Show GCCCTTCTGCTGGCAACAGCCCTTCTGCTGGCAACAGCCCTTCTGCTGGC AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 NA18961.hp2 NA18972.hp1 HG03017.hp2 NA18961.hp2 NA18972.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0003 a0003c0005 a0004c0003	a0003c0005t0001 a0004c0003t0001 a0003c0005t0001 a0004c0003t0001	a0003c0005t0001g0000 a0004c0003t0001g0000 a0003c0005t0001g0000 a0004c0003t0001g0000	3	311	0.0096	51	c.-38 others(62): Show c.-3853_-3852insCCCTTCTGCTGGCAACAGCCCTTCTGCTGGCAAC AGCCCTTCTGCTGGCAA		SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding					3852		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(44): Show GCCCCGCCCCTCCCTAGCCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	166	0.0060	51	c.-30 others(60): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCCATCCCCGCCCCT CCCTAGCCCCCCCAT		SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding					235		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524872	T T	TCCCCCGC others(44): Show TCCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	276	0.0036	51	c.-28 others(60): Show c.-282_-281insCCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCT CCCTAGCCCCCCCAT		SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding					210		chr11	TogoVar
SDC2_chr8_96488813_96616790	96508302	T T	TAATAATA others(44): Show TAATAATAATAATAATAATAATAATAATAATAATAATAATAGCTCCGTCT CA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	332	0.0030	51	c.60+ others(68): Show c.60+14011_60+14012insGCTCCGTCTCAAATAATAATAATAATAA TAATAATAATAATAATAATAATA		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(44): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0166 a0002c0002t0005g0166	1	74	0.0135	51	c.61- others(68): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDK1_chr7_3296252_4274000	3975897	A A	AGCTGCCA others(44): Show AGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0001 a0001c0067t0068g0001	1	112	0.0089	51	c.199 others(70): Show c.1994+1361_1994+1362insCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975897	A A	AGCTGCCA others(44): Show AGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0003 a0003c0001t0003	a0003c0001t0003g0037 a0003c0001t0003g0037	1	112	0.0089	51	c.199 others(70): Show c.1994+1362_1994+1412dupTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975906	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0031 a0031	a0031c0069 a0031c0069	a0031c0069t0069 a0031c0069t0069	a0031c0069t0069g0064 a0031c0069t0069g0064	1	115	0.0087	51	c.199 others(70): Show c.1994+1361_1994+1362insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(44): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCAC GC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0018 a0001c0031t0001g0018	1	84	0.0119	51	c.199 others(70): Show c.1994+1394_1994+1395insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(44): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC AC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0080 a0004c0080	a0004c0080t0014 a0004c0080t0014	a0004c0080t0014g0078 a0004c0080t0014g0078	1	84	0.0119	51	c.199 others(70): Show c.1994+1411_1994+1412insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(44): Show TAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01934.hp1 HG02809.hp1 others(1): Show HG00408.hp2 HG01934.hp1 HG02809.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0034 a0001c0062 others(1): Show a0001c0008 a0001c0034 a0001c0062 a0002c0053	a0001c0008t0007 a0001c0034t0028 a0001c0062t0053 others(1): Show a0001c0008t0007 a0001c0034t0028 a0001c0062t0053 a0002c0053t0067	a0001c0008t0007g0067 a0001c0034t0028g0098 a0001c0062t0053g0042 others(1): Show a0001c0008t0007g0067 a0001c0034t0028g0098 a0001c0062t0053g0042 a0002c0053t0067g0034	4	87	0.0460	51	c.199 others(70): Show c.1994+1419_1994+1469dupGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975911	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0012 a0007c0006t0012	a0007c0006t0012g0115 a0007c0006t0012g0115	1	114	0.0088	51	c.199 others(70): Show c.1994+1416_1994+1417insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975914	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0085 a0001c0010t0002g0085	1	113	0.0088	51	c.199 others(70): Show c.1994+1386_1994+1387insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGCCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0064 a0002c0013t0064	a0002c0013t0064g0023 a0002c0013t0064g0023	1	105	0.0095	51	c.199 others(70): Show c.1994+1418_1994+1419insATCCTCCAGAGAATCACTGGGGGTCC CGGGGCTGAGGCTGCCACGCAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0020 a0020	a0020c0063 a0020c0063	a0020c0063t0007 a0020c0063t0007	a0020c0063t0007g0106 a0020c0063t0007g0106	1	105	0.0095	51	c.199 others(70): Show c.1994+1437_1994+1438insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3975965	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0080 a0004c0080	a0004c0080t0014 a0004c0080t0014	a0004c0080t0014g0078 a0004c0080t0014g0078	1	115	0.0087	51	c.199 others(70): Show c.1994+1469_1994+1470insGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976008	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCACGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0015 a0016c0045t0015	a0016c0045t0015g0046 a0016c0045t0015g0046	1	107	0.0093	51	c.199 others(70): Show c.1994+1469_1994+1470insGTCCTCCAGAGAATCACTGGGGGTCC CACGGCTGAGGCTGCCACACAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976011	G G	AAGGGTCC others(44): Show AAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	51	c.199 others(70): Show c.1994+1465_1994+1466insAAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976015	A A	ATCCTCCA others(44): Show ATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0048 a0001c0092t0048	a0001c0092t0048g0057 a0001c0092t0048g0057	1	7	0.1429	51	c.199 others(70): Show c.1994+1488_1994+1489insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976034	G G	GGGGTCCC others(44): Show GGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0067 a0001c0008t0007g0067	1	24	0.0417	51	c.199 others(70): Show c.1994+1514_1994+1515insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976058	C C	CACAGAGG others(44): Show CACAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC AT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0032 a0001c0007t0003g0032	1	113	0.0088	51	c.199 others(70): Show c.1994+1513_1994+1514insACAGAGGATCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976085	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	107	0.0093	51	c.199 others(70): Show c.1994+1590_1994+1591insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976109	C C	CGCAGAGG others(44): Show CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC AT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0056 a0005c0056	a0005c0056t0006 a0005c0056t0006	a0005c0056t0006g0097 a0005c0056t0006g0097	1	115	0.0087	51	c.199 others(70): Show c.1994+1614_1994+1615insTGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976110	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02615.hp2 HG02886.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0016 a0002c0012t0016	a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0012t0016g0002 a0002c0012t0016g0003	2	106	0.0189	51	c.199 others(70): Show c.1994+1615_1994+1616insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976111	C C	CAGAGGGT others(44): Show CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0030 a0024c0023t0030	a0024c0023t0030g0113 a0024c0023t0030g0113	1	115	0.0087	51	c.199 others(70): Show c.1994+1616_1994+1617insTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976136	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0086 a0001c0026t0002g0086	1	102	0.0098	51	c.199 others(70): Show c.1994+1641_1994+1642insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976144	G G	GGGGCTGA others(44): Show GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0022 a0022	a0022c0094 a0022c0094	a0022c0094t0025 a0022c0094t0025	a0022c0094t0025g0049 a0022c0094t0025g0049	1	115	0.0087	51	c.199 others(70): Show c.1994+1649_1994+1650insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976161	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0025 a0025	a0025c0081 a0025c0081	a0025c0081t0008 a0025c0081t0008	a0025c0081t0008g0075 a0025c0081t0008g0075	1	106	0.0094	51	c.199 others(70): Show c.1994+1666_1994+1667insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976161	G G	GCAGAGGG others(44): Show GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCACGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0015 a0016c0045t0015	a0016c0045t0015g0046 a0016c0045t0015g0046	1	106	0.0094	51	c.199 others(70): Show c.1994+1641_1994+1642insGGGGTCCCACGGCTGAGGCTGCCACA CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976161	G G	GTAGAGGG others(44): Show GTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0008 a0011c0022t0072g0008	1	106	0.0094	51	c.199 others(70): Show c.1994+1616_1994+1617insTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976166	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0005 a0017c0035t0005	a0017c0035t0005g0058 a0017c0035t0005g0058	1	114	0.0088	51	c.199 others(70): Show c.1994+1671_1994+1672insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976166	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAG AC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0009 a0001c0088t0009	a0001c0088t0009g0048 a0001c0088t0009g0048	1	114	0.0088	51	c.199 others(70): Show c.1994+1641_1994+1642insGGGGTCCCGGGGCTGAGGCTGCCACA CAGACGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976187	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0036 a0007c0006t0001g0036	1	97	0.0103	51	c.199 others(70): Show c.1994+1671_1994+1672insCGGTCCTCCAGAGAATCACTGGGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976211	C C	CGCAGAGG others(44): Show CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC AT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0017 a0001c0010t0060g0017	1	114	0.0088	51	c.199 others(70): Show c.1994+1692_1994+1693insGGGGTCCCGGGGCTGAGGCTGCCATG CAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976217	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0005 a0017c0035t0005	a0017c0035t0005g0058 a0017c0035t0005g0058	1	115	0.0087	51	c.199 others(70): Show c.1994+1718_1994+1719insCAGACGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976238	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0033 a0001c0036t0033	a0001c0036t0033g0116 a0001c0036t0033g0116	1	104	0.0096	51	c.199 others(70): Show c.1994+1718_1994+1719insCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976319	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0015 a0002c0013t0015	a0002c0013t0015g0024 a0002c0013t0015g0024	1	109	0.0092	51	c.199 others(70): Show c.1994+1775_1994+1776insGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976348	G G	GGGGCTGA others(44): Show GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0026 a0001c0071 a0001c0026 a0001c0071	a0001c0026t0002 a0001c0071t0057 a0001c0026t0002 a0001c0071t0057	a0001c0026t0002g0086 a0001c0071t0057g0031 a0001c0026t0002g0086 a0001c0071t0057g0031	2	114	0.0175	51	c.199 others(70): Show c.1994+1853_1994+1854insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976351	G G	GCTGAGGC others(44): Show GCTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0022 a0022	a0022c0094 a0022c0094	a0022c0094t0025 a0022c0094t0025	a0022c0094t0025g0049 a0022c0094t0025g0049	1	116	0.0086	51	c.199 others(70): Show c.1994+1818_1994+1819insTGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGACTGAGGCTGCCA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976372	G G	GTCCTCCA others(44): Show GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02735.hp2 HG01516.hp2 HG02735.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0001 a0001c0005 a0003c0001	a0001c0005t0051 a0003c0001t0059 a0001c0005t0051 a0003c0001t0059	a0001c0005t0051g0030 a0003c0001t0059g0026 a0001c0005t0051g0030 a0003c0001t0059g0026	2	115	0.0174	51	c.199 others(70): Show c.1994+1871_1994+1872insCAGAGGATCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976416	G G	GCAGACGG others(44): Show GCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCAGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0028 a0001c0011t0008g0028	1	107	0.0093	51	c.199 others(70): Show c.1994+1871_1994+1872insCAGACGGTCCTCCAGAGAATCACTGG GGGTCCCAGGGCTGAGGCTGCCACA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3976421	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0041 a0001c0060t0041	a0001c0060t0041g0080 a0001c0060t0041g0080	1	107	0.0093	51	c.199 others(70): Show c.1994+1926_1994+1927insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976422	G G	GGTCCTCC others(44): Show GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGA CA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	116	0.0086	51	c.199 others(70): Show c.1994+1896_1994+1897insGGGGTCCCGGGGCTGAGGCTGCCACG CAGACAGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976687	A A	ACAGAGGG others(44): Show ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0031 a0031	a0031c0069 a0031c0069	a0031c0069t0069 a0031c0069t0069	a0031c0069t0069g0064 a0031c0069t0069g0064	1	44	0.0227	51	c.199 others(70): Show c.1994+2146_1994+2147insGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar

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