Table 1 Retrotransposition events associated with human disease

1

Alu

ABCD1

X

Kutsche et al. 2002 [255]

ALD

AluYb9

98

20

Y/5′TR

N

S

4.7 kb Deletion

No TSD

ATTT/GT

2

Alu

ATP7A

X

Gu et al. 2007 [256]

Menkes Disease

AluYa5a2

282

89

N

N

AS

E

AAAAAGGACAGC

TTTT/AT

3

Alu

BTK

X

Lester et al. 1997 [257]

XLA

AluY

N/A

N/A

N/A

N

AS

E

N/A

N/A

4

Alu

BTK

X

Conley et al. 2005 [258]

XLA

AluY

281

74

N

N

S

E

AGAAATGTATGAGTAAGT

TTCT/AT

Same insertion site Conley et al. SVA

5

Alu

CD40LG

X

Apoil et al. 2007 [259]

HIGM

AluYb8

292

8

N

N

AS

E

AAAAATTTTC

TTTT/AT

6

Alu

CLCN5

X

Claverie-Martin et. al. 2003 [260]

Dent’s Disease

AluYa5

281

50

N

N

S

E

AGAAAATGCTCGAAAGA

TTCT/AT

7

Alu

CTRC

1

Masson et. al. 2013 [160]

Chronic pancreatitis

Alu

31

11

Y/5′TR

N

AS

53.9 kb Deletion

N/A

TCTT/AT

Deletes entire CTRC and ELA2A genes

8

Alu

PKLR

1

Lesmana et. al. 2015 [159]

Severe Hereditary Nonspherocytic Hemolytic Anemia

Yb8

288

70

N

N

S

E

AAGATCATCAGCAAA

TCTT/GA

consanguinity, consensus Yb8

9

Alu

FVIII

X

Sukarova et. al. 2001 [261]

Hemophilia A

AluYb8

290

47

N

N

AS

3 nt Deletion

No TSD

TTTC/AT

10

Alu

FVIII

X

Ganguly et. al. 2003 [262]

Hemophilia A

AluYb9

288

37

N

N

AS

I/Splicing

AAAAACCAACAGG

TTTT/AT

Consensus Yb9

11

Alu

FVIII

X

Green et. al. 2008 [263]

Hemophilia A

AluYb8

FL

N/A

N

N

AS

E

N/A

12

Alu

FIX

X

Vidaud et al. 1993 [264]

Hemophilia B

AluYa5a2

244

78

Y/5′TR

N

S

E

AAGAATGGCAGATGCGA

TCTT/AA

Same insertion site as Wulff et al. Alu

13

Alu

FIX

X

Wulff et al. 2000 [265]

Hemophilia B

AluYa5a2

237

39

Y/5′TR

N

S

E

AAGAATGGCAGATGC

TCTT/AA

Same insertion site as Vidaud et al. Alu

14

Alu

FIX

X

Li et al. 2001 [266]

Hemophilia B

AluY

279

40

Y/5′TR

N

AS

E

AAGAAACTGGTCCC

TCTT/AA

15

Alu

GK

X

Zhang et al. 2000 [267]

GKD

AluYc1

241

74

Y/5′TR

N

AS

I

AAAAAATAAG

TTTT/AA

16

Alu

IL2RG

X

Lester et al. 1997 [257]

XSCID

AluYa5

N/A

N/A

N/A

N

AS

I

N/A

N/A

17

Alu

CRB1

1

den Hollander et al. 1999 [268]

RP

AluY

244

70

Y/5′TR

N

AS

E

AAGAGTAAAGATGA

TCTT/GA

18

Alu

SERPINC1

1

Beauchamp et al. 2000 [269]

Type 1 ATP

Alu

6

40

Y/5′TR

N

AS

1.4 kb Deletion

N/A

TTCT/AT

Shortest Alu insertion

19

Alu

ALMS1

2

Taşkesen et al. 2012 [270]

Alström syndrome

AluYa5

257

76

Y/5′TR

N

S

E

AAAAGCCTAGAGAA

TTTT/AA

20

Alu

MSH2

2

Kloor et al. 2004 [271]

HNPCC

AluJ

85

40

Y/5′TR

N

S

E

N/A

N/A

Contains extra 99 nt 3′-of Alu, may be transduction or recombination

21

Alu

MSH2

2

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

22

Alu

ZFHX1B

2

Ishihara et al. 2004 [272]

MWS

AluYa5

281

93

N

N

S

E

AAAATTAAAACA

TTTT/AA

23

Alu

BCHE

3

Muratani et al. 1991 [273]

Cholinesterase deficiency

AluYb9

289

38

N

N

S

E

AAAAATATTTTTTCC

TTTT/AA

24

Alu

CASR

3

Janicic et al. 1995 [274]

FHH and NSHPT

AluYa5

280

93

N

N

AS

E

GAAAGCGTGAGCTGC

TTTC/AA

25

Alu

HESX1

3

Sobrier et al. 2005 [275]

Anterior Pituitary Aplasia

AluYb8

288

30

N

N

S

E

AGAAAATGTCTTTAGA

TTCT/AA

26

Alu

OPA1

3

Gallus et al. 2010 [276]

ADOA

AluYb8

289

25

N

N

AS

I/Splicing

AAAAATTTTAAAAAGTT

TTTT/AC

27

Alu

MLVI2

5

Economou-Pachnis and Tsichlis 1985 [277]

Associated with leukemia

AluYa5

280

26

N

N

AS

I

GAAAATGT

TTTC/AT

28

Alu

APC

5

Halling et al. 1999 [278]

Hereditary desmoid disease

AluYb8

278

40

Y/5′TR

N

S

E

AAGAATAATG

TCTT/AA

Same insertion site as Miki et al. L1

29

Alu

APC

5

Su et al. 2000 [279]

FAP

AluYb9

93

60

Y/5′TR

N

AS

I/Splicing

No TSD

TTTT/AA

1.6 kb intronic deletion

30

Alu

APC

5

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

31

Alu

MAK

6

Tucker et al. 2011 [280], Edwin Stone, personal communication

RP

AluYb8

281

57

N

N

AS

E

AAAGAAAAAA

CTTT/AA

Identified by exome resequence

32

Alu

NT5C3

7

Manco et al. 2006 [281], Leticia Ribeiro, personal communication

Chronic hemolytic anemia

Alu Ya5

281

36

N

N

S

E

AAGAATGGCAGATGG

TCTT/AA

33

Alu

CFTR

7

Chen et al. 2008 [282]

Cystic Fibrosis

AluY

46

57

Y/5′TR

N

AS

E

AAGAATCCCACCTATAAT

TCTT/AA

34

Alu

CFTR

7

Chen et al. 2008 [282]

Cystic Fibrosis

AluYa5

281

56

N

N

S

E

AATAGAAATGATTTTTGTC

TCTC/AT

3′-Processing of (5′-CTC-3′)

35

Alu

EYA1

8

Abdelhak et al. 1997 [283]

BOR syndrome

AluYa5

n/a

97,31

N/A

N

AS

E

AAAAAATAAATGTGTG

TTTT/AA

PolyA tail shortening between generations

36

Alu

LPL

8

Okubo et al. 2007 [284]

LPL deficiency

AluYb9

150

60

Y/5′TR

N

AS

2.2 kb Deletion

No TSD

TTTT/AA

37

Alu

CHD7

8

Udaka et al. 2007 [285]

CHARGE syndrome

AluYa5/8

75

100

Y/5′TR

N

S

10 kb Deletion

No TSD

ATTT/AA

38

Alu

POMT1

9

Bouchet et al. 2007 [286]

Walker Warburg syndrome

AluYa5

290

53

N

N

AS

E

AAAAAGAGATGTACTG

TTTT/AC

39

Alu

FGFR2

10

Oldridge et al. 1999 [287]

Apert syndrome

AluYa5

283

69

N

N

AS

I/Splicing

AGAAAACAAGGGAAGCA

TTCT/AG

40

Alu

FGFR2

10

Oldridge et al. 1999 [287]

Apert syndrome

AluYb8

288

47

N

N

AS

E

AGAATTACCCGCCAAG

TTCT/AT

41

Alu

FGFR2

10

Bochukova et al. 2009 [288]

Apert syndrome

AluYk13

214

12

Y/5′TR

N

AS

E

AAAAGTTACATTCCG

TTTT/GA

42

Alu

FAS

10

Tighe et al. 2002 [289]

ALPS

AluYa5

281

33

N

N

AS

I

AGAATATTCTAAATGTG

TTCT/AA

43

Alu

SERPING1

11

Stoppa-Lyonnet et al. 1990 [290]

HAE

AluYc1

285

42

N

N

S

I

AAAAATACAAAAATTAG

TTTT/AG

44

Alu

HMBS

11

Mustajoki et al. 1999 [291]

AIP

AluYa5

279

39

N

N

AS

E

AAGAATCTTGTCCC

TCTT/GA

45

Alu

ATM

11

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

46

Alu

GNPTAB

12

Tappino et al. 2008 [292]

ML II

AluYa5

279

17

N

N

AS

E

AAAAACAACAACTGAG

TTTT/GA

47

Alu

BRCA2

13

Miki et al. 1996 [293]

Breast Cancer

AluYc1

281

62

N

N

S

E

AATCACAGGC

GATT/AT

48

Alu

BRCA2

13

Teugels et al. 2005 [294]

Breast Cancer

AluYa5

285

N/A

N

N

S

E

AAGAATCTGAACAT

TTCT/GC

3′ Processing 2 nt (5′-CT-3′)

49

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

50

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

51

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

52

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

53

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

54

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

55

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

56

Alu

BRCA2

13

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

57

Alu

PMM2

16

Schollen et al. 2007 [295]

CDG-Ia

AluYb8

263

10

Y/5′TR

N

AS

28 kb Deletion

No TSD

TTTT/AA

58

Alu

PALB2

16

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

59

Alu

BRCA1

17

Peixoto et al. 2013 [161]

Breast and Ovarian Cancer Family

AluYc

191

60

Y/5′TR

N

AS

23.3 kb Deletion

No TSD

CTTT/AG

60

Alu

BRCA1

17

Teugels et al. 2005 [294]

Breast Cancer

AluS

286

N/A

N

N

S

E

GAAAAAGAATCTGCTTT

TTTC/GA

61

Alu

BRCA1

17

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

62

Alu

NF1

17

Wallace et al. 1991 [23]

NF1

AluYa5

282

40

N

N

AS

I/Splicing

AAAAAAAAAAACAT

TTTT/AA

First report of de novo Alu insertion

63

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluY

280

N/A

N

N

S

I

AAAAAATTCAG

TTTT/AA

Same insertion site as Wimmer et al.^a

64

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluY

281

N/A

N/A

N

AS

I

N/A

65

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYa5

282

60

N

N

S

E

ATAAATAGCCTGGA

TTAT/AA

66

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYa5

284

120

N

N

AS

E

AAAAAACTTGCT

TTTT/GA

Same insertion site as Wimmer et al.^c

67

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYa5

281

N/A

N

N

AS

E

AAAAAACTTGCTGATGG

TTTT/GA

Same insertion site as Wimmer et al.^c

68

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYa5

284

110

N

N

AS

E

AATAAAACCTAAAGA

TATT/GA

69

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYa5

279

N/A

N

N

S

E

AAAAGAAGAACATAT

TTTT/GT

Same insertion site as Wimmer et al.^b

70

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYa5

264

60-85

Y/5′TR

N

AS

E

AAGAAGTGCGGTACCT

TCTT/GA

71

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYb8

249

121

Y/5′TR

N

S

E

AAAGCAGTGC

CTTT/AT

72

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYb8

288

N/A

N

N

AS

I

AAAAAAGAGAAAGACAA

TTTT/AA

Same insertion site as Wimmer et al.^a

73

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYb8

289

120

N

N

AS

E

AACAATGGTCTT

TGTT/AA

74

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYb8

288

78-178

N

N

S

E

AAACAATGATGTTA

TTTC/AA

3′ Processing of 1 nt (C)

75

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYb8

288

118

N

N

S

E

AAAAGAAGAACATAT

TTTT/GT

Same insertion site as Wimmer et al.^b

76

Alu

NF1

17

Wimmer et al. 2011 [296]

NF1

AluYb8

268

121

Y/5′TR

N

AS

I

AAAAAACAAACAAACA

TTTT/GT

77

L1

CYBB

X

Meischl et al. 1998 [297], Brouha et al. 2002 [181]

CGD

L1 Ta

1722

101

Y/5′TR

Y (280)

S

E

AA

TGTT/GA

Maternal Meiosis I

78

L1

CYBB

X

Meischl et al. 2000 [298]

CGD

L1 Ta

836

69

Y/5′TR/INV

N

S

I/Splicing

AGAAATAACTATTTAA

TTCT/AA

79

L1

CHM

X

van den Hurk et al. 2003 [177]

Choroideremia

L1 Ta

6017

71

FL

Y (119/406)

AS

E

AGAAGATCAATTAG

TTCT/AA

Insertion in Early Development

80

L1

DMD

X

Musova et al. 2006 [299]

DMD

L1 Ta

452

41

Y/5′TR/INV

N

AS

E

AAATATCTTTATATCA

ATTT/AA

81

L1

DMD

X

Narita et al. 1993 [164]

DMD

L1 Ta

608

16

Y/5′TR

N

AS

E

No TSD

TCTT/AA

2 nt deletion

82

L1

DMD

X

Holmes et al. 1994 [176]

DMD

L1 Ta

1400

38

Y/5′TR/INV

Y(489)

S

E

AAATCATCTGCTGCT

ATTT/AA

First Report of L1 3′TR

83

L1

DMD

X

Yoshida et al. 1998 [300]

XLDCM

L1 Ta

530

73

Y/5′TR

N

AS

5′-UTR/Loss of mRNA

AAAAAAAACCTGGTAAA

TTTT/AT

Tissue specific loss of mRNA

84

L1

DMD

X

E Bakker & G van Omenn, personal communication

DMD

N/A

878

N/A

Y/5′TR

N

S

N/A

N/A

N/A

85

L1

DMD

X

Awano et al. 2010 [301], Solyom et al. 2011 [302]

DMD

L1 Ta

212

118

Y/5′TR

Y (212)

AS

E

GAA

TTTC/AA

Orphan 3′-transduction

86

L1

FVIII

X

Kazazian et al. 1988 [22]

Hemophilia A

L1 Ta

3800

54

Y/5′TR

N

S

E

AAAGACAAACAAAAC

CTTT/AA

First report of de novo L1 insertion

87

L1

FVIII

X

Kazazian et al. 1988 [22]

Hemophilia A

L1 preTa

2300

77

Y/5′TR/INV

N

AS

E

AATGTTTCCTTCTTTTC

CATT/AA

88

L1

FIX

X

Li et al. 2001 [266]

Hemophilia B

L1 Ta

463

68

Y/5′TR

N

S

E

AAAAATAGTGCTGATA

TTTT/AC

89

L1

FIX

X

Mukherjee et al. 2004 [303]

Hemophilia B

L1 Ta

163

125

Y/5′TR

N

S

E

GAAAAATGGATTGT

TTTC/AT

90

L1

RP2

X

Schwahn et al. 1998 [304]

XLRP

L1 Ta

6000

64

FL

N

S

I/Loss of mRNA

AAGACTGTAAGGTG

TCTT/AA

Interrupted polyA

91

L1

RPS6KA3

X

Martinez-Garay et al. 2003 [305]

Coffin-Lowry syndrome

L1 Hs

2800

Yes

Y/5′TR/INV

N

AS

E

AAGAAAACCTGCATTT

TCTT/AG

92

L1

ABDH5

3

Samuelov et al. 2011 [306], Eli Sprecher, personal communication

CDS

N/A

FL

N/A

N

N/A

N

I/Splicing

N/A

N/A

93

L1

MLH1

3

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

94

L1

MLH1

3

Qian et al. 2015 [158]

Hereditary Cancer

N/A

N/A

N/A

N/A

N/A

N/A

E

N/A

N/A

Pan-cancer panel testing

95

L1

APC

5

Miki et al. 1992 [200]

Colon cancer

L1Ta

520

222

Y/5′TR/INV

N

S

E

AAGAATAATG

TCTT/AA

Somatic Insertion/same insertion site as Halling et al. Alu

96

L1

EYA1

8

Morisada et al. 2010 [247]

BOR syndrome

L1 Hs

3756

None

Y/3′TR

N

AS

17 kb Deletion

No TSD

TCTC/AG

Internal Priming

97

L1

FKTN

9

Kondo-Iida et al. 1999 [307]

FCMD

L1Ta

1200

59

Y/5′TR

N

S

I/Splicing/6 nt Deletion

No TSD

TTTT/AA

98

L1

SETX

9

Bernard et al. 2009 [308], Christine Zühlke, personal communication

AOA2

L1 Hs

1300

42

Y/5′TR/INV

N

S

E

GGAAGAATGTGAACTGGCTA

TTCC/AG

3′-processing 2 nt (5′-CC-3′)

99

L1

PTEN

10

Helman et al. 2014 [201]

endometrial carcinoma

L1 Hs

90

22

Y/5′TR

N

S

E

AAAGAATCATCTGGATTATAG

CTTT/AA

Somatic Insertion

100

L1

HBB

11

Divoky et al. 1996 [309]

β-thalassemia

L1 Ta

6000

107

FL

N

AS

I

AAAATAAAAGCAGA

TTTT/AT

101

L1

PDHX

11

Mine et al. 2007 [310]

PDHc deficiency

L1 Hs

6086

67

FL

N

S

46 kb Deletion

No TSD

TTTT/AT

102

L1

SLCO1B3

12

Kagawa et al. 2015 [157]

Rotor syndrome

L1 Ta-1d

5989

100

Near FL

N

S

I/Splicing

AAGAATTAATAGTGACAGT

TCTT/AC

0.054 Japanese Allele Frequency, may be “Hot L1”

103

L1

RB1

13

Rodriguez-Martin et al.2016 [202]

Familial Retinoblastoma

L1 Ta-1d

6044

33

FL

N

S

I/Splicing

AAATTATCTGTTTC

ATTT/AA

N/A

104

L1

NF1

17

Wimmer et al. 2011 [296]

NF1

L1 preTa

1800

N/A

Y/5′TR

N

S

E

AAAAACGAAACTGTGT

TTTT/AT

Untemplated 3′- T?

105

L1

NF1

17

Wimmer et al. 2011 [296]

NF1

L1 Ta

6000

N/A

FL

N

S

E

AAAAATCGAGGG

TTTT/AA

Untemplated 3′- T?

106

L1

NF1

17

Wimmer et al. 2011 [296]

NF1

N/A

2200

N/A

Y/5′TR/INV

N

AS

I/Splicing

AAGAAAATGGT

TCTT/AA

107

SVA

BTK

X

Rohrer et al. 1999 [311], Conley et al. 2005 [258]

XLA

N/A

251

92

Y/5′TR

N

S

E

AGAAATGTATGAGTAA

TTCT/AT

Same insertion site as Conley et. al. Alu

108

SVA

TAF1

X

Makino et al. 2007 [312]

XDP

F

2627

62

FL

N

AS

I

AAAAAAAAAAAATGAAATAG

TCCT/AT

3′-Processing 3 nt (5′-CCT-3′)

109

SVA

FIX

X

Nakamura et.al. 2015 [156]

Hemophilia B

F

2524

28

FL

N

AS

E

AAATGGCACTAGAA

TTCC/AT

3′-Processing 1 nt (5′-C-3′)

110

SVA

LDRAP1

1

Wilund et al. 2002 [313]

ARH

E

2600

57

FL

N

S

I/Splicing

GAAACCTGTTTTCTC

TTTC/AA

111

SVA

SPTA1

1

Hassoun et al. 1994 [314], Ostertag et al. 2003 [24]

HE and HPP

E

632

50

Y/5′TR/INV

Y (183/599)

S

E

GAAATTTGAAGACTTCCAAGT

TTTC/AA

Orphan 3′-transduction

112

SVA

CASP8

2

Stacey et al. 2016 [203]

Breast Cancer Susceptibility

E

2782

N/A

FL

N

AS

I/Decreased RNA

AAGAATTTGA

TCTT/AT

Protective against prostate cancer; active locus?

113

SVA

A4GNT

3

Nazaryan et al. 2015 [155]

Chromothripsis

E

502

None

Y/5′TR (VNTR)

N

AS

I

N/A

TTTT/GA

First report of large scale rearrangement and an insertion. Implicates retrotransposition in germline chromothripsis.

114

SVA

HLA-A

6

Takasu et al. 2007 [315]

Leukemia

F1

2000

45

FL

N/A

AS

14 kb Deletion

N/A

CCTT/AG

Novel SVA subfamily (F1)

115

SVA

PMS2

7

van der Klift et al. 2012 [154]

Lynch syndrome

F

2200

64

Y/5′TR (VNTR)

N

S

I/Splicing

AAGAATGTGCCATGTGA

TCTT/AA

SVA exonization

116

SVA

FKTN

9

Kobayashi et al. 1998 [162]

FCMD

E

3023

32

FL

N

S

3′UTR/Splicing

AAGAAAAAAAAAATTGT

TCTT/AA

117

SVA

PNPLA2

11

Akman et al. 2010 [316]

NLSDM

E

1800

44

Y/5′TR

N

S

E

AAAGAGGCCCGG

CTTT/AG

118

SVA

SUZ1P

17

Vogt et al. 2014 [153]

NF1

F1

1700

23

Y/5′TR (VNTR)

Y (282/160)

AS

I/Deletion of NF1

N/A

TTTT/AC

Largest reported insertion associated deletion (~1 Mb), somatic

119

SVA

SUZ1P

17

Vogt et al. 2014 [153]

NF1

F

1300

40

Y/5′TR (VNTR)

N

AS

I/Deletion of NF1

N/A

CTTT/AC

867 kb deletion, somatic

120

Processed Pseudogene

CYBB

X

de Boer et al. 2014 [152]

CGD

N/A

5739

100

FL

No

AS

I/Splicing

AAAACTCAAAGACTC

TTTT/AA

First reported de novo processed pseudogene (TMF1)

121

pA

COL4A6

X

Segal et al. 1999 [317]

Alport syndrome

N/A

N/A

70

N/A

N/A

AS

13.4 kb Deletion

No TSD

TTCT/AT

122

pA

AGA

4

Jalanko et al. 1995 [318]

AGU

N/A

N/A

37

N/A

N/A

AS

2 kb Deletion

No TSD

TTCT/AA

123

pA

BRCA2

13

Wang et al. 2001 [319]

Breast Cancer

N/A

N/A

35

N/A

N/A

S

6.2 kb Deletion

No TSD

TTCT/AA

124

pA

NF1

17

Wimmer et al. 2011 [296]

NF1

N/A

130

120

N/A

N/A

AS

E

AAGAAA

TCTTNAA